Incidental Mutation 'R3026:Pdilt'
| ID |
265820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdilt
|
| Ensembl Gene |
ENSMUSG00000030968 |
| Gene Name |
protein disulfide isomerase-like, testis expressed |
| Synonyms |
PDILT, 1700007B13Rik |
| MMRRC Submission |
040542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119085810-119122712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119114177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 107
(Q107L)
|
| 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: Q107L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: Q107L
| 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 |
noncoding transcript
Transcript: ENSMUST00000182878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207796
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
A |
13: 60,932,521 (GRCm39) |
N55Y |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,418 (GRCm39) |
T25A |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,891 (GRCm39) |
S156T |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,080,384 (GRCm39) |
H124R |
probably benign |
Het |
| Gba2 |
C |
A |
4: 43,578,308 (GRCm39) |
A14S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,809,564 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mapk8ip2 |
C |
T |
15: 89,345,649 (GRCm39) |
A803V |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,660,465 (GRCm39) |
S702P |
probably damaging |
Het |
| Nudt14 |
T |
C |
12: 112,905,612 (GRCm39) |
Q27R |
probably null |
Het |
| Or51h1 |
T |
C |
7: 102,308,336 (GRCm39) |
F103L |
possibly damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,831,916 (GRCm39) |
V579A |
possibly damaging |
Het |
| Rasl11a |
G |
A |
5: 146,784,187 (GRCm39) |
V211I |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,062,656 (GRCm39) |
S867P |
possibly damaging |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,321,755 (GRCm39) |
E49G |
probably benign |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,932 (GRCm39) |
V162I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCATGTGGACCAGAGTC -3'
(R):5'- GCTGTGAACACTGGGAAATC -3'
Sequencing Primer
(F):5'- ATGTGGACCAGAGTCTCCCAC -3'
(R):5'- AAATCCAGGGGCTCTCAGGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation