Incidental Mutation 'R3037:Pdia6'
| ID |
264861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdia6
|
| Ensembl Gene |
ENSMUSG00000020571 |
| Gene Name |
protein disulfide isomerase associated 6 |
| Synonyms |
CaBP5, Txndc7, 1700015E05Rik, P5 |
| MMRRC Submission |
040553-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
17316590-17334786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17329646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 261
(R261W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057288]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057288
AA Change: R261W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: R261W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
31 |
134 |
5.6e-32 |
PFAM |
|
low complexity region
|
143 |
159 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
166 |
272 |
7.4e-33 |
PFAM |
|
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163000
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
| Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
| Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
| Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
| Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
| Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
| Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
| Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,155,410 (GRCm39) |
D241G |
unknown |
Het |
|
| Other mutations in Pdia6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Pdia6
|
APN |
12 |
17,320,542 (GRCm39) |
splice site |
probably benign |
|
|
IGL01686:Pdia6
|
APN |
12 |
17,333,958 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01978:Pdia6
|
APN |
12 |
17,324,423 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02044:Pdia6
|
APN |
12 |
17,333,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02630:Pdia6
|
APN |
12 |
17,324,422 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03102:Pdia6
|
APN |
12 |
17,331,040 (GRCm39) |
splice site |
probably null |
|
|
braum
|
UTSW |
12 |
17,320,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Pdia6
|
UTSW |
12 |
17,328,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3768:Pdia6
|
UTSW |
12 |
17,320,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Pdia6
|
UTSW |
12 |
17,320,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Pdia6
|
UTSW |
12 |
17,328,594 (GRCm39) |
missense |
probably benign |
|
|
R6230:Pdia6
|
UTSW |
12 |
17,327,214 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7305:Pdia6
|
UTSW |
12 |
17,324,509 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7427:Pdia6
|
UTSW |
12 |
17,328,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Pdia6
|
UTSW |
12 |
17,328,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Pdia6
|
UTSW |
12 |
17,323,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Pdia6
|
UTSW |
12 |
17,323,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Pdia6
|
UTSW |
12 |
17,329,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Pdia6
|
UTSW |
12 |
17,333,982 (GRCm39) |
missense |
unknown |
|
|
R9104:Pdia6
|
UTSW |
12 |
17,320,492 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9509:Pdia6
|
UTSW |
12 |
17,330,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACCCAGAGCCTGAACAG -3'
(R):5'- TGCCAGAAAGTTATGAAAAGCAGTC -3'
Sequencing Primer
(F):5'- CAAGTGATCTACCACTGAGCTGTG -3'
(R):5'- CCTGGGCTACATAGTCAAACTGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation