Rttn - SNV Details



 Human Rare Diseases 
Bilateral generalized polymicrogyria

 Gene Information 
Gene Name Rttn
Old Gene Names for Rttn 4921538a15rik , Ai666264 , C530033i08rik
Gene Description rotatin [Source:MGI Symbol;Acc:MGI:2179288]
MGI phenotype Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; binding; determination of left/right symmetry; cilium basal body
Homolog in other species RTTN
Omim http://omim.org/entry/610436
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023066
Chromosome 18
Coordinate 89,110,686     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.33
T:V0.67
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02645
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0.8
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved