Incidental Mutation 'R6850:Pdilt'
ID 535595
Institutional Source Beutler Lab
Gene Symbol Pdilt
Ensembl Gene ENSMUSG00000030968
Gene Name protein disulfide isomerase-like, testis expressed
Synonyms PDILT, 1700007B13Rik
MMRRC Submission 044954-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6850 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119085810-119122712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119086182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 511 (V511E)
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: V511E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
AA Change: V511E

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1534 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,270,318 (GRCm39) M927V probably benign Het
Agr2 A G 12: 36,045,558 (GRCm39) I15V probably benign Het
Alpk1 A G 3: 127,523,012 (GRCm39) I10T possibly damaging Het
Art5 A G 7: 101,747,302 (GRCm39) V159A possibly damaging Het
Asz1 G A 6: 18,108,942 (GRCm39) R32W probably benign Het
Atp8b1 A C 18: 64,689,923 (GRCm39) M603R possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Car9 A G 4: 43,507,321 (GRCm39) E3G probably damaging Het
Cpne3 A T 4: 19,535,231 (GRCm39) I267N possibly damaging Het
Cyp2c65 T A 19: 39,057,535 (GRCm39) F57I probably benign Het
D430041D05Rik T C 2: 104,031,604 (GRCm39) K980R probably damaging Het
Dnhd1 G T 7: 105,369,137 (GRCm39) G4303W possibly damaging Het
Dnmt3a A G 12: 3,947,600 (GRCm39) N485D probably benign Het
Dusp4 A T 8: 35,283,651 (GRCm39) K166* probably null Het
Ect2 T C 3: 27,193,034 (GRCm39) D344G probably damaging Het
Eif2b1 T C 5: 124,717,069 (GRCm39) D3G probably benign Het
Ermp1 A G 19: 29,594,041 (GRCm39) Y710H probably damaging Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
H2-T10 A G 17: 36,430,152 (GRCm39) L263P probably damaging Het
Iqcn A T 8: 71,163,425 (GRCm39) N873Y probably damaging Het
Itga7 A T 10: 128,781,385 (GRCm39) I621F probably damaging Het
Kcna3 A T 3: 106,944,475 (GRCm39) D246V probably damaging Het
Kctd12 C T 14: 103,219,414 (GRCm39) G155S probably benign Het
Lrtm1 T C 14: 28,749,407 (GRCm39) V256A probably benign Het
Mcf2l T C 8: 13,059,476 (GRCm39) F629L possibly damaging Het
Mphosph9 A G 5: 124,399,019 (GRCm39) F999L probably damaging Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Obscn C T 11: 58,958,950 (GRCm39) V3643M possibly damaging Het
Obscn C T 11: 58,892,955 (GRCm39) A6764T possibly damaging Het
Or4c102 T A 2: 88,422,650 (GRCm39) C167* probably null Het
Or8g18 T C 9: 39,149,271 (GRCm39) I150V probably benign Het
Pdhx T C 2: 102,871,445 (GRCm39) H195R probably damaging Het
Prima1 C T 12: 103,163,594 (GRCm39) D126N probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prune2 C A 19: 17,099,552 (GRCm39) D1685E probably benign Het
Ptgs2 A T 1: 149,981,291 (GRCm39) I525F probably damaging Het
Rab11fip2 A T 19: 59,925,441 (GRCm39) F259I possibly damaging Het
Ranbp3l C A 15: 9,058,808 (GRCm39) D216E probably damaging Het
Scn5a A T 9: 119,330,815 (GRCm39) L1240Q possibly damaging Het
Sohlh2 A T 3: 55,099,707 (GRCm39) T160S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31h1 A C 10: 82,128,888 (GRCm39) M1374R possibly damaging Het
Tank A G 2: 61,480,346 (GRCm39) E294G probably benign Het
Tars1 T A 15: 11,392,885 (GRCm39) Y187F probably benign Het
Tas2r144 T A 6: 42,192,857 (GRCm39) M199K possibly damaging Het
Tdrd3 T C 14: 87,695,515 (GRCm39) probably benign Het
Tecta T A 9: 42,255,134 (GRCm39) D1683V probably benign Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tmie A G 9: 110,695,980 (GRCm39) I137T possibly damaging Het
Trim45 T A 3: 100,830,541 (GRCm39) L105* probably null Het
Trpv3 G A 11: 73,182,519 (GRCm39) G568S probably damaging Het
Wdr75 A G 1: 45,853,758 (GRCm39) T390A probably benign Het
Wdr97 A G 15: 76,241,996 (GRCm39) Y763C probably damaging Het
Zfp35 G A 18: 24,135,839 (GRCm39) R61H possibly damaging Het
Other mutations in Pdilt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGAACTGGGATCCTTGCTC -3'
(R):5'- TAGTTGGACACTGTATCGCC -3'

Sequencing Primer
(F):5'- CGGAGAAGCTAAAGTTCTTCTTTGAC -3'
(R):5'- TTCACTACAATGTTCACACA -3'
Posted On 2018-09-12