Incidental Mutation 'R5769:Pdia4'
| ID |
446433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia4
|
| Ensembl Gene |
ENSMUSG00000025823 |
| Gene Name |
protein disulfide isomerase associated 4 |
| Synonyms |
Cai, ERp72, Erp72, U48620 |
| MMRRC Submission |
043369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 47792446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058844]
[ENSMUST00000077290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058844
|
| SMART Domains |
Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
9 |
69 |
2.6e-22 |
SMART |
|
low complexity region
|
156 |
164 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
240 |
262 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
268 |
295 |
1.41e2 |
SMART |
|
ZnF_C2H2
|
420 |
440 |
1.21e2 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
476 |
498 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
532 |
554 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
560 |
582 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
588 |
610 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
616 |
638 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
644 |
665 |
5.92e0 |
SMART |
|
ZnF_C2H2
|
671 |
693 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
699 |
721 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
727 |
749 |
1.45e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077290
|
| SMART Domains |
Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
| 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: ENSMUST00000080603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204029
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,644,595 (GRCm39) |
V160E |
possibly damaging |
Het |
| Abcb1a |
A |
C |
5: 8,733,426 (GRCm39) |
E106A |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,986,857 (GRCm39) |
D371V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,981 (GRCm39) |
|
probably null |
Het |
| Coq8a |
A |
G |
1: 180,006,681 (GRCm39) |
Y69H |
probably damaging |
Het |
| Defb33 |
T |
A |
8: 21,387,543 (GRCm39) |
F27I |
possibly damaging |
Het |
| Dhx29 |
T |
A |
13: 113,090,251 (GRCm39) |
L776Q |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,689,175 (GRCm39) |
R80* |
probably null |
Het |
| Dtna |
A |
T |
18: 23,784,611 (GRCm39) |
D646V |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,756,878 (GRCm39) |
D1964V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,271 (GRCm39) |
N575K |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,036 (GRCm39) |
P834L |
probably benign |
Het |
| Fyb2 |
G |
T |
4: 104,870,518 (GRCm39) |
K706N |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,872,841 (GRCm39) |
V738E |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,249 (GRCm39) |
T397A |
probably benign |
Het |
| Gins1 |
A |
T |
2: 150,767,918 (GRCm39) |
E149D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grin2a |
C |
T |
16: 9,579,390 (GRCm39) |
R291K |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,007,819 (GRCm39) |
M646V |
probably benign |
Het |
| Hes6 |
G |
T |
1: 91,340,671 (GRCm39) |
R38S |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,265,298 (GRCm39) |
P667S |
possibly damaging |
Het |
| Jrk |
T |
C |
15: 74,577,917 (GRCm39) |
Q456R |
probably benign |
Het |
| Klf18 |
A |
C |
4: 117,586,162 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,027,581 (GRCm39) |
T708A |
probably damaging |
Het |
| Lyg1 |
T |
C |
1: 37,989,831 (GRCm39) |
S19G |
unknown |
Het |
| Magel2 |
T |
A |
7: 62,027,861 (GRCm39) |
M255K |
probably benign |
Het |
| Mctp1 |
A |
G |
13: 76,907,927 (GRCm39) |
D242G |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,952,825 (GRCm39) |
F95L |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,379,995 (GRCm39) |
L1569P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,747 (GRCm39) |
E940G |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,054,917 (GRCm39) |
F163S |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,492 (GRCm39) |
K304R |
possibly damaging |
Het |
| Otud3 |
T |
A |
4: 138,625,421 (GRCm39) |
N211I |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,886,772 (GRCm39) |
L593* |
probably null |
Het |
| Pdcd11 |
T |
A |
19: 47,091,076 (GRCm39) |
L350Q |
possibly damaging |
Het |
| Pik3cb |
G |
A |
9: 98,975,212 (GRCm39) |
Q223* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,474,866 (GRCm39) |
V696M |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,104,863 (GRCm39) |
D61G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,115,635 (GRCm39) |
Y87* |
probably null |
Het |
| Rdh16f2 |
A |
T |
10: 127,712,758 (GRCm39) |
N252I |
probably benign |
Het |
| Rida |
T |
C |
15: 34,484,704 (GRCm39) |
|
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,251,821 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
A |
3: 72,835,568 (GRCm39) |
K931N |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,158,994 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,137,495 (GRCm39) |
S525P |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,141 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
C |
19: 4,501,072 (GRCm39) |
Y326C |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,512 (GRCm39) |
|
probably null |
Het |
| Tmem41b |
G |
A |
7: 109,577,945 (GRCm39) |
T113I |
possibly damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,205,907 (GRCm39) |
I463V |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,277,904 (GRCm39) |
D320V |
probably damaging |
Het |
| Ushbp1 |
A |
T |
8: 71,838,863 (GRCm39) |
N570K |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,817 (GRCm39) |
I246F |
possibly damaging |
Het |
| Vmn2r54 |
A |
C |
7: 12,349,209 (GRCm39) |
L791R |
possibly damaging |
Het |
| Washc1 |
A |
T |
17: 66,425,111 (GRCm39) |
T372S |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,198 (GRCm39) |
E296G |
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 |
|
IGL02456:Pdia4
|
APN |
6 |
47,780,429 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTGCTCTAGACTCTCAC -3'
(R):5'- CATCTTGGCACCTGTGGAG -3'
Sequencing Primer
(F):5'- AGCATCACACGGATTCTGTG -3'
(R):5'- TGGAGGCCTGCTGGGAAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation