P4htm - SNV Details



 Gene Information 
Gene Name P4htm
Old Gene Names for P4htm Bb128974 , 4933406e20rik , Ai853847
Gene Description prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) [Source:MGI Symbol;Acc:MGI:1921693]
MGI phenotype Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; oxidoreductase activity; integral to membrane; endoplasmic reticulum membrane; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen
2-oxoglutarate as one donor
and incorporation of one atom each of oxygen into both donors; cellular_component; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen; oxidoreductase activity
acting on single donors with incorporation of molecular oxygen
incorporation of two atoms of oxygen; calcium ion binding; L-ascorbic acid binding; iron ion binding; molecular_function
Homolog in other species P4HTM
Omim http://omim.org/entry/614584
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006675
Chromosome 9
Coordinate 108,583,736     (Assembly: GRCm38)    
Ref Base T
Codon Change gAg/gTg
Var Base A
Zygosity Heterozygous
Read Depth 41
Allele Frequency
T:R0.68
A:V0.32
Amino Acid Position 179
Amino Acid Change E->V (Glutamic acid -> Valine)
Sample ID IGL01621
Median Base Quality 34
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.26
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000006853:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Prolyl 4-hydroxylase, alpha subunit Pro_4_hyd_alph IPR006620 ENSMUSP00000006853 Smart 143
460 Description available Search pathways

 Availability Details 
Availability Cryopreserved