Cyp4a14 - SNV Details



 Gene Information 
Gene Name Cyp4a14
Old Gene Names for Cyp4a14 Ai314743
Gene Description cytochrome P450, family 4, subfamily a, polypeptide 14 [Source:MGI Symbol;Acc:MGI:1096550]
MGI phenotype Male mice homozygous for disruption of this gene display high blood pressure. Blood pressure is elevated in females as well to levels comparable to normotensive males.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; arachidonic acid monooxygenase activity; response to hormone stimulus; alkane 1-monooxygenase activity; icosanoid biosynthetic process; fatty acid binding; endoplasmic reticulum membrane; lauric acid metabolic process; intracellular membrane-bounded organelle; kidney development; heme binding; response to drug; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen; linoleic acid metabolic process; arachidonic acid binding; arachidonic acid omega-hydroxylase activity; electron carrier activity; iron ion binding
Immgen Expression
LOW
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028715
Chromosome 4
Coordinate 115,491,632     (Assembly: GRCm38)    
Ref Base T
Codon Change Aat/Tat
Var Base A
Zygosity Heterozygous
Read Depth 91
Allele Frequency
T:R0.48
A:V0.52
Amino Acid Position 273
Amino Acid Change N->Y (Asparagine -> Tyrosine)
Sample ID IGL02309
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 0.54
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved