Chd7 - SNV Details



 Human Rare Diseases 
Omenn syndrome
CHARGE syndrome
Normosmic congenital hypogonadotropic hypogonadism
Kallmann syndrome

 Gene Information 
Gene Name Chd7
Old Gene Names for Chd7 Chd7 , 2600010p09rik , A730019i05rik , Af020312
Gene Description chromodomain helicase DNA binding protein 7 [Source:MGI Symbol;Acc:MGI:2444748]
MGI phenotype Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink.
Uniprot Name
CCDS Name
Gene GO
blood vessel development; hydrolase activity
acting on acid anhydrides; helicase activity; chromatin binding; heart morphogenesis; regulation of transcription
DNA-templated; olfactory behavior; retina development in camera-type eye; limb development; olfactory nerve development; adult heart development; DNA binding; regulation of neurogenesis; metabolic process; female genitalia development; protein binding; cognition; face development; cranial nerve development; olfactory bulb development; palate development; inner ear morphogenesis; nucleus; semicircular canal morphogenesis; sensory perception of sound; in utero embryonic development; chromatin modification; skeletal system development; adult walking behavior; artery morphogenesis; nucleic acid binding; embryonic hindlimb morphogenesis; ATP binding; epithelium development; rRNA processing; positive regulation of multicellular organism growth; ear morphogenesis; central nervous system development; camera-type eye development; blood circulation; regulation of growth hormone secretion; locomotory behavior; nose development; genitalia development; transcription
DNA-templated; T cell differentiation
Homolog in other species CHD7
Omim http://omim.org/entry/608892
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041235
Chromosome 4
Coordinate 8,801,404     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.47
G:V0.50
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL00510
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved