Incidental Mutation 'IGL03102:Pdia6'
ID 418760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdia6
Ensembl Gene ENSMUSG00000020571
Gene Name protein disulfide isomerase associated 6
Synonyms CaBP5, Txndc7, 1700015E05Rik, P5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03102
Quality Score
Status
Chromosome 12
Chromosomal Location 17316590-17334786 bp(+) (GRCm39)
Type of Mutation splice site (3686 bp from exon)
DNA Base Change (assembly) T to A at 17331040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000057288] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000156727] [ENSMUST00000221129]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000020884
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000057288
AA Change: F381Y

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: F381Y

DomainStartEndE-ValueType
Pfam:Thioredoxin 31 134 5.6e-32 PFAM
low complexity region 143 159 N/A INTRINSIC
Pfam:Thioredoxin 166 272 7.4e-33 PFAM
low complexity region 427 445 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095820
SMART Domains Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 417 3.4e-165 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140751
SMART Domains Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 133 4.1e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000156727
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163000
Predicted Effect probably null
Transcript: ENSMUST00000221129
Coding Region Coverage
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 an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,744,804 (GRCm39) probably null Het
Alyref G A 11: 120,488,591 (GRCm39) P79L possibly damaging Het
Arhgap28 T C 17: 68,203,231 (GRCm39) D74G probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdc5l A T 17: 45,718,857 (GRCm39) D586E probably damaging Het
Chd3 G T 11: 69,252,022 (GRCm39) Y79* probably null Het
Cnot3 C A 7: 3,659,155 (GRCm39) S467* probably null Het
Col18a1 A T 10: 76,903,457 (GRCm39) probably benign Het
Col19a1 C A 1: 24,367,134 (GRCm39) G483C probably damaging Het
Col5a3 A C 9: 20,715,931 (GRCm39) probably null Het
Dctn5 A T 7: 121,732,382 (GRCm39) N9I probably benign Het
Emc10 T A 7: 44,141,413 (GRCm39) N225I probably damaging Het
Fam219b A G 9: 57,447,981 (GRCm39) Y158C probably damaging Het
Fras1 T C 5: 96,874,394 (GRCm39) V2273A probably benign Het
Frem3 T A 8: 81,339,661 (GRCm39) H651Q possibly damaging Het
Gm4076 T A 13: 85,275,438 (GRCm39) noncoding transcript Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Ifnab T G 4: 88,609,062 (GRCm39) T135P possibly damaging Het
Jag1 T C 2: 136,926,608 (GRCm39) I979V probably benign Het
Kank1 G T 19: 25,403,282 (GRCm39) M1097I probably damaging Het
Kcnq3 A G 15: 65,900,637 (GRCm39) V206A probably damaging Het
Kel T C 6: 41,679,917 (GRCm39) K91R probably benign Het
Kirrel1 G T 3: 86,990,807 (GRCm39) R672S probably damaging Het
Kmt2d A G 15: 98,753,424 (GRCm39) M143T probably benign Het
Kpna1 A G 16: 35,833,289 (GRCm39) I122V probably damaging Het
Lrpap1 A G 5: 35,250,694 (GRCm39) S353P probably damaging Het
Mtfr1l T A 4: 134,259,543 (GRCm39) Q11L probably damaging Het
Muc5b G A 7: 141,416,806 (GRCm39) V3251M probably benign Het
Mup8 C T 4: 60,219,746 (GRCm39) D174N probably benign Het
Nup155 A T 15: 8,176,768 (GRCm39) E1015D probably benign Het
Or10ak14 C A 4: 118,611,131 (GRCm39) L201F probably benign Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
P2rx7 T C 5: 122,801,668 (GRCm39) F188L possibly damaging Het
Pacrg A G 17: 11,058,719 (GRCm39) F13L probably benign Het
Palb2 A T 7: 121,723,722 (GRCm39) S676T possibly damaging Het
Pfkm A T 15: 98,024,266 (GRCm39) I425F possibly damaging Het
Pikfyve C T 1: 65,291,626 (GRCm39) R1282* probably null Het
Pole C T 5: 110,444,939 (GRCm39) L432F probably damaging Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prr5 G T 15: 84,650,508 (GRCm39) probably benign Het
Prxl2b T C 4: 154,981,058 (GRCm39) probably benign Het
Psat1 A G 19: 15,883,487 (GRCm39) Y343H probably damaging Het
Ptprj C T 2: 90,309,312 (GRCm39) R51K probably benign Het
Qars1 A G 9: 108,386,118 (GRCm39) D103G probably benign Het
Rims2 A T 15: 39,322,989 (GRCm39) I768F possibly damaging Het
Robo4 T A 9: 37,315,481 (GRCm39) V275E probably damaging Het
Ryr2 A G 13: 11,650,468 (GRCm39) probably benign Het
Sez6l T C 5: 112,623,269 (GRCm39) H94R probably benign Het
Slco1c1 T A 6: 141,490,553 (GRCm39) N211K possibly damaging Het
Strbp T C 2: 37,476,515 (GRCm39) probably benign Het
Tceanc2 T A 4: 107,004,878 (GRCm39) H90L probably damaging Het
Tdrkh A T 3: 94,331,844 (GRCm39) T90S possibly damaging Het
Tiam2 A G 17: 3,559,823 (GRCm39) D1288G probably damaging Het
Tln1 T C 4: 43,532,861 (GRCm39) D2447G possibly damaging Het
Tmem63c G A 12: 87,112,323 (GRCm39) V141M probably benign Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Tprkb T A 6: 85,901,400 (GRCm39) C13S probably benign Het
Traf3ip3 T C 1: 192,877,385 (GRCm39) T184A probably damaging Het
Trpc6 T A 9: 8,649,302 (GRCm39) M504K probably benign Het
Ttn G T 2: 76,597,567 (GRCm39) S18036* probably null Het
Wdfy4 A T 14: 32,688,392 (GRCm39) C2914S probably damaging Het
Ylpm1 T A 12: 85,096,032 (GRCm39) probably benign Het
Zfp644 T C 5: 106,785,134 (GRCm39) H471R probably damaging Het
Zfp747l1 T C 7: 126,983,951 (GRCm39) T384A probably benign Het
Zfyve16 C T 13: 92,648,325 (GRCm39) E910K possibly damaging Het
Other mutations in Pdia6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Pdia6 APN 12 17,320,542 (GRCm39) splice site probably benign
IGL01686:Pdia6 APN 12 17,333,958 (GRCm39) unclassified probably benign
IGL01978:Pdia6 APN 12 17,324,423 (GRCm39) missense possibly damaging 0.82
IGL02044:Pdia6 APN 12 17,333,227 (GRCm39) missense probably damaging 0.98
IGL02630:Pdia6 APN 12 17,324,422 (GRCm39) missense probably benign 0.45
braum UTSW 12 17,320,457 (GRCm39) missense probably damaging 1.00
R2126:Pdia6 UTSW 12 17,328,546 (GRCm39) missense probably damaging 1.00
R3037:Pdia6 UTSW 12 17,329,646 (GRCm39) missense probably damaging 1.00
R3768:Pdia6 UTSW 12 17,320,457 (GRCm39) missense probably damaging 1.00
R3769:Pdia6 UTSW 12 17,320,457 (GRCm39) missense probably damaging 1.00
R5639:Pdia6 UTSW 12 17,328,594 (GRCm39) missense probably benign
R6230:Pdia6 UTSW 12 17,327,214 (GRCm39) missense probably benign 0.08
R7305:Pdia6 UTSW 12 17,324,509 (GRCm39) missense probably benign 0.20
R7427:Pdia6 UTSW 12 17,328,546 (GRCm39) missense probably damaging 1.00
R7428:Pdia6 UTSW 12 17,328,546 (GRCm39) missense probably damaging 1.00
R8013:Pdia6 UTSW 12 17,323,966 (GRCm39) missense probably damaging 1.00
R8014:Pdia6 UTSW 12 17,323,966 (GRCm39) missense probably damaging 1.00
R8696:Pdia6 UTSW 12 17,329,662 (GRCm39) missense probably damaging 1.00
R8724:Pdia6 UTSW 12 17,333,982 (GRCm39) missense unknown
R9104:Pdia6 UTSW 12 17,320,492 (GRCm39) missense probably benign 0.45
R9509:Pdia6 UTSW 12 17,330,989 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02