Incidental Mutation 'R4406:Pdilt'
ID |
327660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdilt
|
Ensembl Gene |
ENSMUSG00000030968 |
Gene Name |
protein disulfide isomerase-like, testis expressed |
Synonyms |
PDILT, 1700007B13Rik |
MMRRC Submission |
041688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4406 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119085810-119122712 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 119094232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 340
(S340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033267
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033267]
[ENSMUST00000208275]
|
AlphaFold |
Q9DAN1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033267
AA Change: S340A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000033267 Gene: ENSMUSG00000030968 AA Change: S340A
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 |
0.1467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (45/45) |
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 |
Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
Camkv |
T |
C |
9: 107,823,418 (GRCm39) |
|
probably null |
Het |
Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
Mrpl4 |
T |
C |
9: 20,918,231 (GRCm39) |
W146R |
probably damaging |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
Or5b96 |
A |
T |
19: 12,867,598 (GRCm39) |
Y114* |
probably null |
Het |
Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
Zfp472 |
C |
A |
17: 33,197,134 (GRCm39) |
T403N |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,748 (GRCm39) |
Q405R |
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 |
R3546:Pdilt
|
UTSW |
7 |
119,099,711 (GRCm39) |
nonsense |
probably null |
|
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'- TCGTGTCACGTTGAACCTC -3'
(R):5'- GGGTGCTCCTTAATCCTTGC -3'
Sequencing Primer
(F):5'- TCACGTTGAACCTCGGCAC -3'
(R):5'- ATTAGTTCCTAGCTTCTCAGTGG -3'
|
Posted On |
2015-07-07 |