Col14a1 - SNV Details



 Human Rare Diseases 
Punctate palmoplantar keratoderma type 1

 Gene Information 
Gene Name Col14a1
Old Gene Names for Col14a1 5730412l22rik , Aw108078
Gene Description collagen, type XIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1341272]
MGI phenotype Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons.
Uniprot Name
CCDS Name
Gene GO
extracellular matrix; cell adhesion; poly(A) RNA binding; collagen trimer; collagen fibril organization; regulation of cell growth involved in cardiac muscle cell development; protein binding; extracellular vesicular exosome; homeostasis of number of cells within a tissue; interstitial matrix; ventricular cardiac muscle tissue development; extracellular space
Homolog in other species COL14A1
Omim http://omim.org/entry/120324
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.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 ENSMUSG00000022371
Chromosome 15
Coordinate 55,410,204     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 58
Allele Frequency
C:R0.60
A:V0.40
Amino Acid Change T->K (Threonine -> Lysine)
Sample ID IGL03385
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.67
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved