Incidental Mutation 'R1243:Pdia4'
ID |
152063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdia4
|
Ensembl Gene |
ENSMUSG00000025823 |
Gene Name |
protein disulfide isomerase associated 4 |
Synonyms |
Cai, ERp72, Erp72, U48620 |
MMRRC Submission |
039310-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1243 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
47773075-47790364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 47784054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 117
(D117N)
|
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: D117N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076521 Gene: ENSMUSG00000025823 AA Change: D117N
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: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ajm1 |
C |
T |
2: 25,468,570 (GRCm39) |
R447Q |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,645,687 (GRCm39) |
S1587G |
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,337,326 (GRCm39) |
E154G |
probably benign |
Het |
Disp2 |
C |
T |
2: 118,622,303 (GRCm39) |
R1012C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,120,882 (GRCm39) |
L2135P |
probably benign |
Het |
Epb41l2 |
A |
G |
10: 25,364,941 (GRCm39) |
R578G |
possibly damaging |
Het |
Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
Myh3 |
T |
C |
11: 66,981,279 (GRCm39) |
I714T |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,924,540 (GRCm39) |
L1251P |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,043,537 (GRCm39) |
Y604C |
probably damaging |
Het |
Or5ak22 |
T |
C |
2: 85,230,617 (GRCm39) |
S87G |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,672,670 (GRCm39) |
Q1091L |
probably damaging |
Het |
Relch |
T |
C |
1: 105,678,089 (GRCm39) |
L1114P |
probably damaging |
Het |
Slc34a1 |
G |
A |
13: 55,559,944 (GRCm39) |
A304T |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,210 (GRCm39) |
E236V |
possibly damaging |
Het |
Zfp956 |
A |
G |
6: 47,932,985 (GRCm39) |
T87A |
probably 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCGACCATTTGTATGCGTGAGAG -3'
(R):5'- TGCATGGGAACTGTTCAATTCCTCC -3'
Sequencing Primer
(F):5'- ccggtgtatggaggccag -3'
(R):5'- TGCAAGCAGTTTGCTCCAGA -3'
|
Posted On |
2014-01-29 |