Col4a4 - SNV Details



 Human Rare Diseases 
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome

 Gene Information 
Gene Name Col4a4
Old Gene Names for Col4a4 E130010m05rik
Gene Description collagen, type IV, alpha 4 [Source:MGI Symbol;Acc:MGI:104687]
Uniprot Name
CCDS Name
Gene GO
basement membrane; basal lamina; collagen type IV; collagen; glomerular basement membrane development; extracellular matrix structural constituent
Homolog in other species COL4A4
Omim http://omim.org/entry/120131
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000067158
Chromosome 1
Coordinate 82,466,545     (Assembly: GRCm38)    
Ref Base G
Codon Change Cct/Act
Var Base T
Zygosity Heterozygous
Read Depth 13
Allele Frequency
G:R0.31
T:V0.69
Amino Acid Position 1334
Amino Acid Change P->T (Proline -> Threonine)
Sample ID IGL01104
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.54
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved