Trip11 - SNV Details



 Human Rare Diseases 
Achondrogenesis type 1A

 Gene Information 
Gene Name Trip11
Old Gene Names for Trip11 2610511g22rik , 3110031g15rik , 6030460n08rik , Ai450776
Gene Description thyroid hormone receptor interactor 11 [Source:MGI Symbol;Acc:MGI:1924393]
MGI phenotype Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects.
Uniprot Name
CCDS Name
Gene GO
intracellular membrane-bounded organelle; protein binding; nucleus; Golgi apparatus; protein targeting to Golgi
Homolog in other species TRIP11
Omim http://omim.org/entry/604505
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021188
Chromosome 12
Coordinate 101,884,631     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aAc
Var Base T
Zygosity Heterozygous
Read Depth 43
Allele Frequency
A:R0.53
T:V0.46
Amino Acid Position 773
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL01764
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved