Incidental Mutation 'IGL02312:Pdilt'
ID |
287829 |
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: 0.118)
|
Stock # |
IGL02312
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119085810-119122712 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119118890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 53
(T53M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033267]
[ENSMUST00000207796]
|
AlphaFold |
Q9DAN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033267
AA Change: T53M
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000033267 Gene: ENSMUSG00000030968 AA Change: T53M
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: ENSMUST00000207796
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
Clint1 |
C |
T |
11: 45,784,883 (GRCm39) |
T294M |
probably damaging |
Het |
Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
Galnt17 |
A |
T |
5: 131,335,371 (GRCm39) |
I23N |
probably benign |
Het |
Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
H2-T5 |
T |
C |
17: 36,476,299 (GRCm39) |
I350V |
probably benign |
Het |
Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
Hunk |
T |
C |
16: 90,272,829 (GRCm39) |
Y302H |
probably damaging |
Het |
Mybph |
A |
T |
1: 134,125,188 (GRCm39) |
I239F |
probably damaging |
Het |
Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
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 |
IGL02102:Pdilt
|
APN |
7 |
119,086,173 (GRCm39) |
missense |
probably benign |
0.28 |
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 |