Atrip - SNV Details



 Human Rare Diseases 
Seckel syndrome

 Gene Information 
Gene Name Atrip
Old Gene Names for Atrip 6620401k05rik
Gene Description ATR interacting protein [Source:MGI Symbol;Acc:MGI:1925349]
Uniprot Name
CCDS Name
Gene GO
DNA repair; protein binding; nucleus
Homolog in other species ATRIP
Omim http://omim.org/entry/606605
Immgen Expression
HIGH(LOWER IN GN.BM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025646
Chromosome 9
Coordinate 109,061,664     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Ccc
Var Base G
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 91
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02227
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 67 Other Mutations

 Predictions 
Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved