Incidental Mutation 'IGL00924:P4hb'
ID |
28525 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
P4hb
|
Ensembl Gene |
ENSMUSG00000025130 |
Gene Name |
prolyl 4-hydroxylase, beta polypeptide |
Synonyms |
Pdia1, Thbp, ERp59, PDI, protein disulfide isomerase |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.426)
|
Stock # |
IGL00924
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120451124-120464079 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 120454644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 245
(Q245K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026122]
[ENSMUST00000168360]
|
AlphaFold |
P09103 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026122
AA Change: Q245K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000026122 Gene: ENSMUSG00000025130 AA Change: Q245K
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
27 |
134 |
4.9e-37 |
PFAM |
Pfam:Thioredoxin_2
|
39 |
126 |
3.5e-9 |
PFAM |
Pfam:Thioredoxin_6
|
163 |
347 |
8.3e-44 |
PFAM |
Pfam:Thioredoxin
|
370 |
475 |
1.5e-30 |
PFAM |
low complexity region
|
478 |
501 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168360
|
SMART Domains |
Protein: ENSMUSP00000128796 Gene: ENSMUSG00000025130
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
27 |
131 |
6e-32 |
PFAM |
low complexity region
|
134 |
157 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
Other mutations in P4hb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0042:P4hb
|
UTSW |
11 |
120,459,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:P4hb
|
UTSW |
11 |
120,459,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0362:P4hb
|
UTSW |
11 |
120,454,162 (GRCm39) |
missense |
probably benign |
0.04 |
R0597:P4hb
|
UTSW |
11 |
120,459,070 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1458:P4hb
|
UTSW |
11 |
120,453,381 (GRCm39) |
splice site |
probably benign |
|
R1635:P4hb
|
UTSW |
11 |
120,462,442 (GRCm39) |
missense |
probably damaging |
0.97 |
R1750:P4hb
|
UTSW |
11 |
120,453,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R1773:P4hb
|
UTSW |
11 |
120,463,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:P4hb
|
UTSW |
11 |
120,454,044 (GRCm39) |
missense |
probably benign |
0.23 |
R1874:P4hb
|
UTSW |
11 |
120,452,992 (GRCm39) |
missense |
probably benign |
|
R2014:P4hb
|
UTSW |
11 |
120,453,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R2239:P4hb
|
UTSW |
11 |
120,454,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R2331:P4hb
|
UTSW |
11 |
120,459,106 (GRCm39) |
missense |
probably benign |
0.00 |
R3935:P4hb
|
UTSW |
11 |
120,453,235 (GRCm39) |
missense |
probably benign |
0.20 |
R3936:P4hb
|
UTSW |
11 |
120,453,235 (GRCm39) |
missense |
probably benign |
0.20 |
R5601:P4hb
|
UTSW |
11 |
120,462,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5893:P4hb
|
UTSW |
11 |
120,462,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:P4hb
|
UTSW |
11 |
120,462,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R8243:P4hb
|
UTSW |
11 |
120,454,206 (GRCm39) |
missense |
probably benign |
0.03 |
R8940:P4hb
|
UTSW |
11 |
120,458,828 (GRCm39) |
missense |
probably benign |
0.23 |
R9480:P4hb
|
UTSW |
11 |
120,463,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |