Incidental Mutation 'IGL02102:Pdilt'
ID |
279786 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pdilt
|
Ensembl Gene |
ENSMUSG00000030968 |
Gene Name |
protein disulfide isomerase-like, testis expressed |
Synonyms |
PDILT, 1700007B13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL02102
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119085810-119122712 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 119086173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 514
(E514A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033267]
[ENSMUST00000208275]
|
AlphaFold |
Q9DAN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033267
AA Change: E514A
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000033267 Gene: ENSMUSG00000030968 AA Change: E514A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
Pfam:Thioredoxin_6
|
177 |
362 |
6e-35 |
PFAM |
Pfam:Thioredoxin
|
385 |
489 |
3.7e-16 |
PFAM |
low complexity region
|
495 |
512 |
N/A |
INTRINSIC |
low complexity region
|
551 |
579 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208275
|
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 has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and abnormal sperm physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
Het |
|
Other mutations in Pdilt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02002:Pdilt
|
APN |
7 |
119,099,667 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02312:Pdilt
|
APN |
7 |
119,118,890 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02887:Pdilt
|
APN |
7 |
119,097,272 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0670:Pdilt
|
UTSW |
7 |
119,099,651 (GRCm39) |
missense |
probably benign |
0.03 |
R0759:Pdilt
|
UTSW |
7 |
119,088,707 (GRCm39) |
nonsense |
probably null |
|
R1525:Pdilt
|
UTSW |
7 |
119,087,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R1612:Pdilt
|
UTSW |
7 |
119,086,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1633:Pdilt
|
UTSW |
7 |
119,087,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Pdilt
|
UTSW |
7 |
119,088,607 (GRCm39) |
missense |
probably benign |
0.02 |
R3026:Pdilt
|
UTSW |
7 |
119,114,177 (GRCm39) |
missense |
probably benign |
0.01 |
R3546:Pdilt
|
UTSW |
7 |
119,099,711 (GRCm39) |
nonsense |
probably null |
|
R4406:Pdilt
|
UTSW |
7 |
119,094,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Pdilt
|
UTSW |
7 |
119,114,147 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5459:Pdilt
|
UTSW |
7 |
119,086,158 (GRCm39) |
missense |
probably benign |
0.01 |
R5771:Pdilt
|
UTSW |
7 |
119,094,217 (GRCm39) |
missense |
probably damaging |
0.98 |
R5807:Pdilt
|
UTSW |
7 |
119,099,766 (GRCm39) |
unclassified |
probably benign |
|
R6143:Pdilt
|
UTSW |
7 |
119,094,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Pdilt
|
UTSW |
7 |
119,099,706 (GRCm39) |
missense |
probably damaging |
0.99 |
R6850:Pdilt
|
UTSW |
7 |
119,086,182 (GRCm39) |
missense |
probably damaging |
0.98 |
R7159:Pdilt
|
UTSW |
7 |
119,087,174 (GRCm39) |
missense |
probably benign |
0.01 |
R7676:Pdilt
|
UTSW |
7 |
119,094,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8266:Pdilt
|
UTSW |
7 |
119,088,604 (GRCm39) |
missense |
probably benign |
0.01 |
R8282:Pdilt
|
UTSW |
7 |
119,097,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8437:Pdilt
|
UTSW |
7 |
119,114,109 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8951:Pdilt
|
UTSW |
7 |
119,099,611 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9581:Pdilt
|
UTSW |
7 |
119,099,633 (GRCm39) |
missense |
probably damaging |
0.96 |
R9588:Pdilt
|
UTSW |
7 |
119,100,870 (GRCm39) |
missense |
probably benign |
|
R9672:Pdilt
|
UTSW |
7 |
119,100,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |