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) question?
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

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 noncoding transcript
Transcript: ENSMUST00000194930
Predicted Effect probably benign
Transcript: ENSMUST00000208275
Meta Mutation Damage Score 0.1467 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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