Incidental Mutation 'R7533:P4htm'
| ID |
583417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P4htm
|
| Ensembl Gene |
ENSMUSG00000006675 |
| Gene Name |
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) |
| Synonyms |
4933406E20Rik, P4h-tm |
| MMRRC Submission |
045605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R7533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108456061-108474866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108474136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 134
(H134R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000193621]
|
| AlphaFold |
Q8BG58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006853
AA Change: H134R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: H134R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
P4Hc
|
143 |
460 |
1.26e-19 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193621
AA Change: H134R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
AA Change: H134R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
143 |
211 |
5e-39 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr2 |
T |
C |
12: 36,046,128 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,437,674 (GRCm39) |
S1240T |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,852,831 (GRCm39) |
L144F |
|
Het |
| Cck |
T |
C |
9: 121,319,201 (GRCm39) |
D94G |
probably damaging |
Het |
| Ccser1 |
A |
T |
6: 61,615,474 (GRCm39) |
T659S |
probably benign |
Het |
| Cfap74 |
C |
A |
4: 155,500,200 (GRCm39) |
D15E |
|
Het |
| Commd5 |
G |
A |
15: 76,784,776 (GRCm39) |
A58T |
probably benign |
Het |
| Dctn2 |
A |
G |
10: 127,103,347 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ecpas |
T |
C |
4: 58,809,411 (GRCm39) |
I1654M |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,925 (GRCm39) |
T506A |
probably damaging |
Het |
| Fat4 |
A |
C |
3: 39,061,406 (GRCm39) |
I4330L |
probably benign |
Het |
| Fcho2 |
G |
T |
13: 98,921,307 (GRCm39) |
Q193K |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,587,570 (GRCm39) |
I890L |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,829,236 (GRCm39) |
N102K |
probably benign |
Het |
| Il7r |
G |
A |
15: 9,508,047 (GRCm39) |
S425L |
probably benign |
Het |
| Itga3 |
G |
T |
11: 94,937,344 (GRCm39) |
Q1011K |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,416,510 (GRCm39) |
I177N |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,114,578 (GRCm39) |
A1048V |
|
Het |
| Neu4 |
C |
T |
1: 93,950,122 (GRCm39) |
T27M |
probably benign |
Het |
| Or52b3 |
T |
C |
7: 102,203,718 (GRCm39) |
S76P |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,458,506 (GRCm39) |
D462G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,115,525 (GRCm39) |
D1375G |
|
Het |
| Ptgr1 |
C |
T |
4: 58,971,011 (GRCm39) |
R247H |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,589,746 (GRCm39) |
N152D |
probably damaging |
Het |
| Serpina1c |
T |
A |
12: 103,863,566 (GRCm39) |
K211N |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,238,696 (GRCm39) |
E256G |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,811,942 (GRCm39) |
|
probably null |
Het |
| Ube3d |
A |
G |
9: 86,304,990 (GRCm39) |
F284S |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,973,091 (GRCm39) |
D757G |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,071 (GRCm39) |
A102V |
probably benign |
Het |
| Vmn2r29 |
G |
T |
7: 7,244,656 (GRCm39) |
A406D |
probably damaging |
Het |
| Wdfy3 |
G |
A |
5: 102,030,354 (GRCm39) |
R2385C |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,824,752 (GRCm39) |
K244M |
possibly damaging |
Het |
| Zfp61 |
T |
C |
7: 23,990,504 (GRCm39) |
Q549R |
probably benign |
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 |
|
|
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 |
|
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'- TTAGTAAACTGGATTCAGAGAGCG -3'
(R):5'- GGTAAGAACATCCCCTCCTCTC -3'
Sequencing Primer
(F):5'- CTGGATTCAGAGAGCGCATCTAC -3'
(R):5'- AAGGAACCGTGGCTCAGCTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation