Incidental Mutation 'IGL02456:Pdia4'
ID |
294169 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdia4
|
Ensembl Gene |
ENSMUSG00000025823 |
Gene Name |
protein disulfide isomerase associated 4 |
Synonyms |
Cai, ERp72, Erp72, U48620 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02456
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47780429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 301
(D301E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077290]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077290
AA Change: D301E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000076521 Gene: ENSMUSG00000025823 AA Change: D301E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
29 |
57 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
59 |
163 |
4.1e-34 |
PFAM |
Pfam:Calsequestrin
|
165 |
388 |
5.2e-13 |
PFAM |
Pfam:Thioredoxin
|
174 |
278 |
3e-34 |
PFAM |
Pfam:Thioredoxin_6
|
308 |
500 |
5.9e-21 |
PFAM |
Pfam:Thioredoxin
|
522 |
630 |
5e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204029
|
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 a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016] PHENOTYPE: Mice homozygous for a conditional allele activated in platelets exhibit decreased platelet aggregation and increased bleeding time. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,302,584 (GRCm39) |
Y174* |
probably null |
Het |
Apc |
C |
A |
18: 34,446,935 (GRCm39) |
S1243* |
probably null |
Het |
Atp8b5 |
A |
G |
4: 43,365,578 (GRCm39) |
T731A |
probably benign |
Het |
Bcl2a1c |
T |
A |
9: 114,159,458 (GRCm39) |
F79I |
probably damaging |
Het |
Brip1 |
G |
T |
11: 85,955,925 (GRCm39) |
L863I |
possibly damaging |
Het |
Cbx4 |
T |
A |
11: 118,972,938 (GRCm39) |
K146* |
probably null |
Het |
Ces1a |
C |
T |
8: 93,766,126 (GRCm39) |
V163I |
possibly damaging |
Het |
Ces5a |
C |
T |
8: 94,255,272 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
C |
1: 139,484,131 (GRCm39) |
N128K |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,391 (GRCm39) |
D46G |
probably damaging |
Het |
Cntnap1 |
T |
G |
11: 101,068,955 (GRCm39) |
I166S |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,946,872 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,714,739 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,430 (GRCm39) |
V626E |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,394,177 (GRCm39) |
L458Q |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,256,477 (GRCm39) |
Y424C |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,196 (GRCm39) |
F84L |
probably damaging |
Het |
Grn |
T |
A |
11: 102,326,930 (GRCm39) |
D509E |
probably benign |
Het |
Iho1 |
G |
T |
9: 108,283,820 (GRCm39) |
T208K |
probably benign |
Het |
Kdm5c |
G |
A |
X: 151,029,314 (GRCm39) |
D343N |
probably damaging |
Het |
Ly75 |
C |
T |
2: 60,124,125 (GRCm39) |
M1717I |
probably benign |
Het |
Map1a |
C |
A |
2: 121,129,134 (GRCm39) |
P133T |
probably damaging |
Het |
Mpp2 |
C |
A |
11: 101,950,199 (GRCm39) |
A552S |
possibly damaging |
Het |
Mtr |
T |
C |
13: 12,213,980 (GRCm39) |
I897M |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,095,550 (GRCm39) |
I337F |
probably damaging |
Het |
Nup85 |
T |
C |
11: 115,472,691 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
A |
G |
7: 108,468,257 (GRCm39) |
Y35H |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,340 (GRCm39) |
M142K |
possibly damaging |
Het |
Or2t46 |
T |
A |
11: 58,472,024 (GRCm39) |
L118H |
possibly damaging |
Het |
Or51l4 |
T |
A |
7: 103,404,700 (GRCm39) |
I31F |
possibly damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,966 (GRCm39) |
N178S |
probably damaging |
Het |
Phf2 |
C |
A |
13: 48,982,322 (GRCm39) |
G134C |
unknown |
Het |
Polr2h |
T |
A |
16: 20,539,352 (GRCm39) |
L76H |
probably damaging |
Het |
Rbm47 |
G |
A |
5: 66,184,364 (GRCm39) |
R80C |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,507,837 (GRCm39) |
S286P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,447,179 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,227,991 (GRCm39) |
S1559P |
probably benign |
Het |
Tbc1d16 |
T |
G |
11: 119,101,372 (GRCm39) |
H46P |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,440,475 (GRCm39) |
|
probably benign |
Het |
Tmtc4 |
A |
T |
14: 123,163,374 (GRCm39) |
|
probably null |
Het |
Ttc13 |
T |
C |
8: 125,417,100 (GRCm39) |
|
probably null |
Het |
Ttc17 |
T |
C |
2: 94,193,130 (GRCm39) |
|
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,438 (GRCm39) |
M1L |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,860,258 (GRCm39) |
S2825P |
probably damaging |
Het |
Zan |
A |
C |
5: 137,445,106 (GRCm39) |
S1718A |
unknown |
Het |
Zfp39 |
G |
T |
11: 58,793,626 (GRCm39) |
Y37* |
probably null |
Het |
Zfp407 |
T |
C |
18: 84,576,766 (GRCm39) |
N1449S |
probably damaging |
Het |
Zhx2 |
C |
A |
15: 57,687,035 (GRCm39) |
D801E |
possibly damaging |
Het |
|
Other mutations in Pdia4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01882:Pdia4
|
APN |
6 |
47,780,412 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02207:Pdia4
|
APN |
6 |
47,773,741 (GRCm39) |
missense |
probably benign |
0.01 |
R0078:Pdia4
|
UTSW |
6 |
47,775,344 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0501:Pdia4
|
UTSW |
6 |
47,777,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R0622:Pdia4
|
UTSW |
6 |
47,783,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R1243:Pdia4
|
UTSW |
6 |
47,784,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Pdia4
|
UTSW |
6 |
47,776,133 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1830:Pdia4
|
UTSW |
6 |
47,773,695 (GRCm39) |
nonsense |
probably null |
|
R1853:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
R1854:Pdia4
|
UTSW |
6 |
47,790,161 (GRCm39) |
missense |
unknown |
|
R1951:Pdia4
|
UTSW |
6 |
47,780,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Pdia4
|
UTSW |
6 |
47,773,589 (GRCm39) |
missense |
probably benign |
|
R2126:Pdia4
|
UTSW |
6 |
47,773,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Pdia4
|
UTSW |
6 |
47,775,341 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2351:Pdia4
|
UTSW |
6 |
47,773,848 (GRCm39) |
splice site |
probably null |
|
R2415:Pdia4
|
UTSW |
6 |
47,783,490 (GRCm39) |
missense |
probably benign |
0.27 |
R4375:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R4376:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R4377:Pdia4
|
UTSW |
6 |
47,775,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R5132:Pdia4
|
UTSW |
6 |
47,773,669 (GRCm39) |
missense |
probably benign |
0.01 |
R5250:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5339:Pdia4
|
UTSW |
6 |
47,773,619 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5432:Pdia4
|
UTSW |
6 |
47,775,400 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5541:Pdia4
|
UTSW |
6 |
47,773,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Pdia4
|
UTSW |
6 |
47,792,446 (GRCm39) |
unclassified |
probably benign |
|
R5873:Pdia4
|
UTSW |
6 |
47,785,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Pdia4
|
UTSW |
6 |
47,777,952 (GRCm39) |
missense |
probably benign |
0.43 |
R7187:Pdia4
|
UTSW |
6 |
47,790,193 (GRCm39) |
missense |
unknown |
|
R7231:Pdia4
|
UTSW |
6 |
47,777,891 (GRCm39) |
missense |
probably benign |
|
R7791:Pdia4
|
UTSW |
6 |
47,784,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R8493:Pdia4
|
UTSW |
6 |
47,773,575 (GRCm39) |
nonsense |
probably null |
|
R8726:Pdia4
|
UTSW |
6 |
47,785,200 (GRCm39) |
nonsense |
probably null |
|
R8754:Pdia4
|
UTSW |
6 |
47,773,464 (GRCm39) |
missense |
probably benign |
|
R9022:Pdia4
|
UTSW |
6 |
47,785,149 (GRCm39) |
missense |
probably benign |
0.00 |
R9175:Pdia4
|
UTSW |
6 |
47,775,417 (GRCm39) |
missense |
possibly damaging |
0.61 |
RF033:Pdia4
|
UTSW |
6 |
47,785,222 (GRCm39) |
small deletion |
probably benign |
|
RF042:Pdia4
|
UTSW |
6 |
47,785,240 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |