D10Bwg1379e - SNV Details



 Gene Information 
Gene Name D10bwg1379e
Old Gene Names for D10Bwg1379e B930094h20rik
Gene Description DNA segment, Chr 10, Brigham & Women's Genetics 1379 expressed [Source:MGI Symbol;Acc:MGI:106387]
Uniprot Name
CCDS Name
Gene GO
trans-Golgi network; integral to membrane; negative regulation of phosphatase activity; intracellular; binding; vesicle-mediated transport; regulation of ARF protein signal transduction; ARF guanyl-nucleotide exchange factor activity
Homolog in other species KIAA1244
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN(HIGH IN NS GROUP)
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 ENSMUSG00000019852
Chromosome 10
Coordinate 18,600,560     (Assembly: GRCm38)    
Ref Base A
Codon Change Tct/Cct
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.55
G:V0.46
Amino Acid Position 1504
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01501
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 22 Other Mutations

 Predictions 
Polyphen Score 0.56
Polyphen Prediction Possibly damaging
Sift Score 0.1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000019999:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000019999 Superfamily 47
1594 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved