Incidental Mutation 'IGL01621:P4htm'
ID 92584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol P4htm
Ensembl Gene ENSMUSG00000006675
Gene Name prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
Synonyms 4933406E20Rik, P4h-tm
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL01621
Quality Score
Status
Chromosome 9
Chromosomal Location 108456061-108474866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108460935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 106 (E106V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000068700] [ENSMUST00000193621]
AlphaFold Q8BG58
Predicted Effect probably benign
Transcript: ENSMUST00000006853
AA Change: E179V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: E179V

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
P4Hc 143 460 1.26e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068700
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

DomainStartEndE-ValueType
Blast:WD40 109 142 3e-6 BLAST
WD40 198 237 1.42e-4 SMART
WD40 247 284 7.28e-2 SMART
WD40 286 326 1.72e-3 SMART
Blast:WD40 336 375 3e-13 BLAST
WD40 479 519 2.96e1 SMART
low complexity region 537 552 N/A INTRINSIC
WD40 559 598 1.77e2 SMART
Blast:WD40 600 641 7e-20 BLAST
Blast:WD40 764 815 2e-22 BLAST
Blast:WD40 855 896 2e-11 BLAST
WD40 900 949 1.48e1 SMART
WD40 973 1015 5.52e-2 SMART
WD40 1035 1076 3.98e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191674
Predicted Effect probably damaging
Transcript: ENSMUST00000192080
AA Change: E106V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000193621
AA Change: E179V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
AA Change: E179V

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
Blast:P4Hc 143 211 5e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227071
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in P4htm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02205:P4htm APN 9 108,459,161 (GRCm39) missense probably benign 0.08
IGL02756:P4htm APN 9 108,456,977 (GRCm39) missense probably damaging 1.00
IGL02802:P4htm UTSW 9 108,460,055 (GRCm39) missense probably benign 0.00
R0605:P4htm UTSW 9 108,460,923 (GRCm39) missense probably null 0.17
R3922:P4htm UTSW 9 108,460,094 (GRCm39) missense probably benign
R4562:P4htm UTSW 9 108,459,195 (GRCm39) missense probably null 1.00
R4730:P4htm UTSW 9 108,456,971 (GRCm39) missense possibly damaging 0.89
R4900:P4htm UTSW 9 108,456,427 (GRCm39) missense probably damaging 1.00
R5027:P4htm UTSW 9 108,456,492 (GRCm39) missense probably benign 0.16
R5124:P4htm UTSW 9 108,459,141 (GRCm39) missense possibly damaging 0.59
R5633:P4htm UTSW 9 108,456,922 (GRCm39) missense probably damaging 1.00
R5877:P4htm UTSW 9 108,460,932 (GRCm39) missense possibly damaging 0.94
R5927:P4htm UTSW 9 108,474,582 (GRCm39) missense probably damaging 1.00
R6163:P4htm UTSW 9 108,459,150 (GRCm39) missense probably damaging 0.99
R6798:P4htm UTSW 9 108,460,117 (GRCm39) missense possibly damaging 0.83
R6920:P4htm UTSW 9 108,460,812 (GRCm39) missense probably benign 0.01
R6962:P4htm UTSW 9 108,456,394 (GRCm39) missense possibly damaging 0.49
R7066:P4htm UTSW 9 108,474,162 (GRCm39) missense probably damaging 0.98
R7183:P4htm UTSW 9 108,459,059 (GRCm39) missense possibly damaging 0.95
R7376:P4htm UTSW 9 108,457,991 (GRCm39) missense probably damaging 0.98
R7506:P4htm UTSW 9 108,460,878 (GRCm39) missense probably damaging 1.00
R7533:P4htm UTSW 9 108,474,136 (GRCm39) missense probably benign 0.02
R7874:P4htm UTSW 9 108,474,148 (GRCm39) missense probably benign 0.01
R8453:P4htm UTSW 9 108,457,566 (GRCm39) unclassified probably benign
R8705:P4htm UTSW 9 108,457,240 (GRCm39) missense probably damaging 1.00
R9030:P4htm UTSW 9 108,474,627 (GRCm39) missense probably benign 0.16
R9099:P4htm UTSW 9 108,460,911 (GRCm39) missense probably benign 0.00
R9193:P4htm UTSW 9 108,460,081 (GRCm39) missense probably damaging 0.98
R9367:P4htm UTSW 9 108,459,147 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09