Aldh1a7 - SNV Details



 Gene Information 
Gene Name Aldh1a7
Old Gene Names for Aldh1a7 Ai987940 , Aldh1a4 , Raldh2
Gene Description aldehyde dehydrogenase family 1, subfamily A7 [Source:MGI Symbol;Acc:MGI:1347050]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity; cytoplasm; acyl-CoA dehydrogenase activity; metabolic process; bioluminescence; aldehyde dehydrogenase (NAD) activity; ethanol catabolic process
Immgen Expression
LOW
Gnf Expression
MEDIAN
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024747
Chromosome 19
Coordinate 20,727,040     (Assembly: GRCm38)    
Ref Base T
Codon Change cAt/cGt
Var Base C
Zygosity Heterozygous
Read Depth 62
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 30
Amino Acid Change H->R (Histidine -> Arginine)
Sample ID IGL01132
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.12
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000025656:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Aldehyde dehydrogenase domain Aldehyde_DH_dom IPR015590 ENSMUSP00000025656 Pfam 29
492 Description available Search pathways
Aldehyde/histidinol dehydrogenase Ald_DH/histidinol_DH IPR016161 ENSMUSP00000025656 Superfamily 3
501 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved