Incidental Mutation 'R5633:P4htm'
| ID |
439983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P4htm
|
| Ensembl Gene |
ENSMUSG00000006675 |
| Gene Name |
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) |
| Synonyms |
4933406E20Rik, P4h-tm |
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108456061-108474866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108456922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 428
(D428E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000068700]
[ENSMUST00000193621]
|
| AlphaFold |
Q8BG58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006853
AA Change: D428E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: D428E
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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: ENSMUST00000194900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195181
|
| Meta Mutation Damage Score |
0.3917 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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 |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
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 |
|
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'- TGGAGAGAAGTTTCCCTGCC -3'
(R):5'- TGTACACACCCTTCCAGAGC -3'
Sequencing Primer
(F):5'- GAGAAGTTTCCCTGCCCCAGAC -3'
(R):5'- AACCTTGGCTGCCTGGTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation