Col5a1 - SNV Details



 Human Rare Diseases 
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2

 Gene Information 
Gene Name Col5a1
Old Gene Names for Col5a1 Ai413331
Gene Description collagen, type V, alpha 1 [Source:MGI Symbol;Acc:MGI:88457]
MGI phenotype Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.
Uniprot Name
CCDS Name
Gene GO
regulation of cellular component organization; basement membrane; blood vessel development; heart morphogenesis; extracellular matrix; platelet-derived growth factor binding; signal transduction; cell adhesion; skin development; wound healing
spreading of epidermal cells; collagen fibril organization; collagen type V; proteoglycan binding; collagen biosynthetic process; protein binding; eye morphogenesis; cell migration; integrin biosynthetic process; collagen; fibril organization; heparin binding; receptor binding; extracellular matrix structural constituent
Homolog in other species COL5A1
Omim http://omim.org/entry/120215
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
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
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 ENSMUSG00000026837
Chromosome 2
Coordinate 27,996,873     (Assembly: GRCm38)    
Ref Base A
Codon Change aAc/aGc
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.59
G:V0.41
Amino Acid Position 935
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01938
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.72
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved