Matn4 - SNV Details



 Gene Information 
Gene Name Matn4
Gene Description matrilin 4 [Source:MGI Symbol;Acc:MGI:1328314]
Uniprot Name
CCDS Name
Gene GO
response to axon injury; protein binding; calcium ion binding
Homolog in other species MATN4
Omim http://omim.org/entry/603897
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000016995
Chromosome 2
Coordinate 164,396,838     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Change F->S (Phenylalanine -> Serine)
Sample ID IGL02696
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved