AI747448 - SNV Details



 Gene Information 
Gene Name Ai747448
Gene Description expressed sequence AI747448 [Source:MGI Symbol;Acc:MGI:2139790]
Uniprot Name
CCDS Name
Gene GO
protein binding; cellular_component; biological_process; molecular_function
Immgen Expression
LOW
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074195
Chromosome 3
Coordinate 144,928,342     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.45
G:V0.55
Amino Acid Position 104
Amino Acid Change D->A (Aspartic acid -> Alanine)
Sample ID IGL01726
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

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

 Protein domains 
ENSMUSP00000096149:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Chloride channel calcium-activated Cl_channel_Ca IPR013642 ENSMUSP00000096149 Pfam 3
263 Description available Search pathways
Calcium-activated chloride channel protein CaCC_prot IPR004727 ENSMUSP00000096149 TIGRfam 9
864 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved