Incidental Mutation 'IGL01686:Pdia6'
| ID |
103971 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdia6
|
| Ensembl Gene |
ENSMUSG00000020571 |
| Gene Name |
protein disulfide isomerase associated 6 |
| Synonyms |
CaBP5, Txndc7, 1700015E05Rik, P5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17316590-17334786 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 17333958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020884]
[ENSMUST00000057288]
[ENSMUST00000095820]
[ENSMUST00000140751]
[ENSMUST00000156727]
[ENSMUST00000221129]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020884
|
| SMART Domains |
Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
427 |
3.9e-156 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000057288
AA Change: I430T
|
| SMART Domains |
Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: I430T
| 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 |
probably benign
Transcript: ENSMUST00000095820
|
| SMART Domains |
Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
417 |
3.4e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140751
|
| SMART Domains |
Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
4 |
133 |
4.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156727
|
| SMART Domains |
Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_C
|
1 |
347 |
2.5e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221129
|
| 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, 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,548,801 (GRCm39) |
V1316A |
possibly damaging |
Het |
| Ada |
T |
G |
2: 163,572,236 (GRCm39) |
K254N |
probably benign |
Het |
| Adamts17 |
A |
G |
7: 66,490,037 (GRCm39) |
R40G |
probably benign |
Het |
| Akr1d1 |
C |
T |
6: 37,507,178 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,536,215 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,095,831 (GRCm39) |
I378F |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,796,212 (GRCm39) |
N50S |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,641,294 (GRCm39) |
S783T |
possibly damaging |
Het |
| Cmpk2 |
C |
T |
12: 26,527,177 (GRCm39) |
R389W |
probably damaging |
Het |
| Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
C |
17: 78,651,863 (GRCm39) |
L529P |
probably benign |
Het |
| Ctps1 |
A |
G |
4: 120,411,183 (GRCm39) |
S278P |
probably benign |
Het |
| Defb21 |
C |
A |
2: 152,416,821 (GRCm39) |
|
probably benign |
Het |
| Ecm1 |
T |
A |
3: 95,643,376 (GRCm39) |
N308I |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
| Gabrp |
G |
T |
11: 33,502,826 (GRCm39) |
S346* |
probably null |
Het |
| Gli2 |
C |
A |
1: 118,776,165 (GRCm39) |
C419F |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,297,180 (GRCm39) |
F514L |
probably benign |
Het |
| Hormad1 |
T |
G |
3: 95,485,580 (GRCm39) |
M256R |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,686,693 (GRCm39) |
|
probably benign |
Het |
| Klhl38 |
A |
T |
15: 58,186,707 (GRCm39) |
D7E |
probably benign |
Het |
| Map3k1 |
G |
A |
13: 111,891,196 (GRCm39) |
T1248I |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,309,542 (GRCm39) |
V303E |
probably benign |
Het |
| Mterf4 |
A |
T |
1: 93,232,443 (GRCm39) |
L136* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,217,391 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,768,613 (GRCm39) |
D85E |
probably benign |
Het |
| Nmnat2 |
G |
T |
1: 152,952,743 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,916,497 (GRCm39) |
D476E |
probably benign |
Het |
| Or14c45 |
T |
C |
7: 86,175,986 (GRCm39) |
V7A |
probably benign |
Het |
| Or8b53 |
T |
A |
9: 38,667,550 (GRCm39) |
C189S |
probably damaging |
Het |
| Prrg1 |
G |
A |
X: 77,527,388 (GRCm39) |
A47V |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,981 (GRCm39) |
I160K |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,625 (GRCm39) |
Y889C |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,956,110 (GRCm39) |
D605E |
probably benign |
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 |
|
|
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 |
|
R3037:Pdia6
|
UTSW |
12 |
17,329,646 (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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation