Incidental Mutation 'R5873:Pdia4'
| ID |
490520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia4
|
| Ensembl Gene |
ENSMUSG00000025823 |
| Gene Name |
protein disulfide isomerase associated 4 |
| Synonyms |
Cai, ERp72, Erp72, U48620 |
| MMRRC Submission |
044080-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5873 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47785110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 86
(W86R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077290
AA Change: W86R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: W86R
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,630,167 (GRCm39) |
|
probably null |
Het |
| 4930505A04Rik |
T |
A |
11: 30,376,220 (GRCm39) |
K216* |
probably null |
Het |
| 5330417H12Rik |
T |
C |
7: 107,223,975 (GRCm39) |
|
probably benign |
Het |
| Abcc4 |
G |
T |
14: 118,763,702 (GRCm39) |
D1044E |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,159,282 (GRCm39) |
T656A |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,327,196 (GRCm39) |
N661S |
probably benign |
Het |
| Asah2 |
A |
G |
19: 31,981,082 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
A |
G |
18: 22,649,142 (GRCm39) |
D377G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,381 (GRCm39) |
S279P |
probably benign |
Het |
| C7 |
A |
G |
15: 5,034,717 (GRCm39) |
V610A |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,442,891 (GRCm39) |
A48S |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
| Casc3 |
A |
G |
11: 98,712,270 (GRCm39) |
Y103C |
unknown |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,309,182 (GRCm39) |
|
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,962,512 (GRCm39) |
S110P |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,304,931 (GRCm39) |
Y439C |
probably damaging |
Het |
| Crybb2 |
C |
T |
5: 113,213,759 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
C |
T |
7: 26,374,431 (GRCm39) |
R271H |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,947,723 (GRCm39) |
I3039V |
probably benign |
Het |
| Dnpep |
T |
C |
1: 75,291,787 (GRCm39) |
D242G |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,855 (GRCm39) |
N660I |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,061,640 (GRCm39) |
D471G |
probably benign |
Het |
| Evpl |
A |
T |
11: 116,125,258 (GRCm39) |
L97H |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,389,850 (GRCm39) |
I142F |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,302,350 (GRCm39) |
P519Q |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,801,472 (GRCm39) |
F92I |
probably benign |
Het |
| Galm |
A |
G |
17: 80,445,532 (GRCm39) |
E94G |
probably benign |
Het |
| Gfy |
T |
G |
7: 44,827,004 (GRCm39) |
H364P |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,875,821 (GRCm39) |
S1558P |
possibly damaging |
Het |
| Hmmr |
T |
A |
11: 40,598,527 (GRCm39) |
Q600L |
probably damaging |
Het |
| Hnrnph3 |
A |
G |
10: 62,855,170 (GRCm39) |
|
probably null |
Het |
| Igkv4-90 |
T |
A |
6: 68,784,453 (GRCm39) |
N21I |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,834,598 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
C |
11: 99,257,716 (GRCm39) |
L375R |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,545,936 (GRCm39) |
V578A |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,305,052 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
A |
10: 81,095,963 (GRCm39) |
V166E |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,570,113 (GRCm39) |
T391K |
possibly damaging |
Het |
| Mybl1 |
T |
A |
1: 9,755,890 (GRCm39) |
T220S |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,194,858 (GRCm39) |
V438A |
probably damaging |
Het |
| Or2y6 |
A |
T |
11: 52,104,180 (GRCm39) |
L212Q |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,348 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,016,388 (GRCm39) |
D911V |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,788,804 (GRCm39) |
Q854R |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,923,913 (GRCm39) |
|
probably null |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,617 (GRCm39) |
T416A |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,609,889 (GRCm39) |
D585G |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,466 (GRCm39) |
V529A |
probably benign |
Het |
| Rc3h1 |
C |
T |
1: 160,787,071 (GRCm39) |
T822I |
probably damaging |
Het |
| Slc25a18 |
A |
T |
6: 120,763,242 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,901,818 (GRCm39) |
N792S |
probably benign |
Het |
| Tat |
T |
C |
8: 110,718,581 (GRCm39) |
|
probably null |
Het |
| Tbx21 |
A |
T |
11: 97,005,474 (GRCm39) |
|
probably null |
Het |
| Txndc11 |
A |
G |
16: 10,893,069 (GRCm39) |
L887P |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,673,831 (GRCm39) |
T399A |
possibly damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,633 (GRCm39) |
H736L |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,204 (GRCm39) |
R496G |
possibly damaging |
Het |
| Zranb2 |
C |
T |
3: 157,242,020 (GRCm39) |
R36* |
probably null |
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 |
|
R5769:Pdia4
|
UTSW |
6 |
47,792,446 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CCCTGACATCAAGTTGAAGTCC -3'
(R):5'- GGGTCTCTTCTGGTCAGATACTTC -3'
Sequencing Primer
(F):5'- AGACTGTAGATCCCAGTTCTAGC -3'
(R):5'- CTTCTGGTCAGATACTTCAGATACAG -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation