Incidental Mutation 'R3546:Pdilt'
| ID |
268201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdilt
|
| Ensembl Gene |
ENSMUSG00000030968 |
| Gene Name |
protein disulfide isomerase-like, testis expressed |
| Synonyms |
PDILT, 1700007B13Rik |
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119085810-119122712 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 119099711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 186
(E186*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033267]
[ENSMUST00000208275]
|
| AlphaFold |
Q9DAN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033267
AA Change: E186*
|
| SMART Domains |
Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: E186*
| 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: ENSMUST00000194930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208275
|
| Meta Mutation Damage Score |
0.9718 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,926 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Sult6b1 |
G |
A |
17: 79,214,336 (GRCm39) |
T29I |
probably benign |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ush1g |
T |
A |
11: 115,209,723 (GRCm39) |
H157L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
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 |
|
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 |
|
R3026:Pdilt
|
UTSW |
7 |
119,114,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGTGTGATGTGAAAGGTCCCTC -3'
(R):5'- GCTAGAGAATCATCCTAGGTGGG -3'
Sequencing Primer
(F):5'- AGGTCCCTCATGATCATTAGAGC -3'
(R):5'- GAATCATCCTAGGTGGGAAACTTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation