Col11a1 - SNV Details



 Human Rare Diseases 
Marshall syndrome
Fibrochondrogenesis
Stickler syndrome type 2

 Gene Information 
Gene Name Col11a1
Old Gene Names for Col11a1 C530001d20rik
Gene Description collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]
MGI phenotype Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.
Uniprot Name
CCDS Name
Gene GO
heart morphogenesis; extracellular matrix; signal transduction; cartilage condensation; chondrocyte development; detection of mechanical stimulus involved in sensory perception of sound; collagen fibril organization; ventricular cardiac muscle tissue morphogenesis; embryonic skeletal system morphogenesis; inner ear morphogenesis; sensory perception of sound; collagen; visual perception; proteoglycan metabolic process; ossification; skeletal system morphogenesis; receptor binding; extracellular matrix structural constituent; molecular_function; cartilage development
Homolog in other species COL11A1
Omim http://omim.org/entry/120280
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
LOW
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 ENSMUSG00000027966
Chromosome 3
Coordinate 114,217,134     (Assembly: GRCm38)    
Ref Base T
Codon Change cTg/cAg
Var Base A
Zygosity Heterozygous
Read Depth 57
Allele Frequency
T:R0.60
A:V0.40
Amino Acid Position 1733
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL01474
Median Base Quality 40
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.16
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000089793:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibrillar collagen, C-terminal Fib_collagen_C IPR000885 ENSMUSP00000089793 Pfam 1591
1802 Description available Search pathways
Fibrillar collagen, C-terminal Fib_collagen_C IPR000885 ENSMUSP00000089793 Smart 1574
1803 Description available Search pathways

 Availability Details 
Availability Cryopreserved