Incidental Mutation 'IGL02044:Pdia6'
| ID |
184880 |
| 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 # |
IGL02044
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
17316590-17334786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17333227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 400
(T400K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052912
(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 |
probably damaging
Transcript: ENSMUST00000057288
AA Change: T400K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: T400K
| 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 |
noncoding transcript
Transcript: ENSMUST00000163000
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
| Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
| Pate7 |
T |
C |
9: 35,687,959 (GRCm39) |
K94E |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
| Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
| Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
| Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
| Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
| Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation