D130043K22Rik - SNV Details



 Gene Information 
Gene Name D130043k22rik
Old Gene Names for D130043K22Rik 4930451e12rik
Gene Description RIKEN cDNA D130043K22 gene [Source:MGI Symbol;Acc:MGI:3036268]
Uniprot Name
CCDS Name
Gene GO
early endosome; integral to membrane; negative regulation of dendrite development; protein binding; neuron migration; early endosome membrane; plasma membrane; molecular_function
Homolog in other species KIAA0319
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006711
Chromosome 13
Coordinate 24,856,870     (Assembly: GRCm38)    
Ref Base A
Codon Change Acc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 55
Allele Frequency
A:R0.51
C:V0.49
Amino Acid Position 92
Amino Acid Change T->P (Threonine -> Proline)
Sample ID IGL02576
Median Base Quality 33
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.71
Polyphen Prediction Possibly damaging
Sift Score 0.07
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000006893:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Seven cysteines MANSC IPR013980 ENSMUSP00000006893 Prosite_profiles 13
99 Description available Search pathways
Seven cysteines, N-terminal MANSC_N IPR011106 ENSMUSP00000006893 Smart 20
102 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved