Incidental Mutation 'R4562:P4htm'
| ID |
343152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P4htm
|
| Ensembl Gene |
ENSMUSG00000006675 |
| Gene Name |
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) |
| Synonyms |
4933406E20Rik, P4h-tm |
| MMRRC Submission |
041787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R4562 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108456061-108474866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108459195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 246
(S246G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000068700]
[ENSMUST00000193621]
|
| AlphaFold |
Q8BG58 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006853
AA Change: S246G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: S246G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
P4Hc
|
143 |
460 |
1.26e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068700
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000192080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193621
|
| SMART Domains |
Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000194900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195181
|
| Meta Mutation Damage Score |
0.3168 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,120,331 (GRCm39) |
R25K |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,776,177 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,215 (GRCm39) |
L309P |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,162,094 (GRCm39) |
D17G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,689,962 (GRCm39) |
V590D |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,215,477 (GRCm39) |
S96N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,763,240 (GRCm39) |
T1303A |
probably benign |
Het |
| Defa24 |
A |
G |
8: 22,224,523 (GRCm39) |
|
probably benign |
Het |
| Dffb |
A |
G |
4: 154,049,913 (GRCm39) |
C317R |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,821,778 (GRCm39) |
V711A |
probably benign |
Het |
| Esco1 |
A |
G |
18: 10,595,074 (GRCm39) |
S71P |
possibly damaging |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gm10797 |
A |
G |
10: 67,408,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10822 |
C |
T |
2: 73,729,833 (GRCm39) |
|
noncoding transcript |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,724 (GRCm39) |
E152G |
probably benign |
Het |
| Ighv3-5 |
T |
A |
12: 114,226,498 (GRCm39) |
T25S |
possibly damaging |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
T |
C |
6: 126,511,303 (GRCm39) |
H275R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klf14 |
G |
A |
6: 30,935,394 (GRCm39) |
A80V |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,273,215 (GRCm39) |
|
probably null |
Het |
| Mef2b |
G |
A |
8: 70,619,918 (GRCm39) |
D345N |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,963,907 (GRCm39) |
T214M |
possibly damaging |
Het |
| Or10g9b |
A |
G |
9: 39,917,577 (GRCm39) |
S223P |
probably damaging |
Het |
| Or13g1 |
A |
G |
7: 85,956,360 (GRCm39) |
|
probably benign |
Het |
| Or4f4b |
A |
T |
2: 111,313,909 (GRCm39) |
M45L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,459,252 (GRCm39) |
|
probably null |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde6b |
A |
G |
5: 108,551,234 (GRCm39) |
K173E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,873,525 (GRCm39) |
D270G |
probably benign |
Het |
| Prr5 |
A |
C |
15: 84,626,114 (GRCm39) |
D63A |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
C |
A |
7: 28,774,005 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
G |
A |
5: 31,689,373 (GRCm39) |
V347M |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,188,265 (GRCm39) |
T904A |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,533,598 (GRCm39) |
A2319S |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,509,209 (GRCm39) |
A5T |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tnfrsf22 |
C |
T |
7: 143,203,313 (GRCm39) |
R19Q |
unknown |
Het |
| Tnfsf11 |
T |
C |
14: 78,516,020 (GRCm39) |
D316G |
probably damaging |
Het |
| Trerf1 |
G |
A |
17: 47,637,997 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 102,957,720 (GRCm39) |
T45I |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,428,047 (GRCm39) |
|
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,672,986 (GRCm39) |
Q130* |
probably null |
Het |
| Wdr31 |
A |
C |
4: 62,372,159 (GRCm39) |
L319W |
probably damaging |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in P4htm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:P4htm
|
APN |
9 |
108,460,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGATTGCGGTGCTCAC -3'
(R):5'- CGGGACCAAATCAAGGTTTAAAC -3'
Sequencing Primer
(F):5'- TGCTCACCTCTGGCGGATG -3'
(R):5'- GAAAACAAACTTCTCTGGGTCTTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation