Incidental Mutation 'IGL02630:Pdia6'
ID301250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdia6
Ensembl Gene ENSMUSG00000020571
Gene Nameprotein disulfide isomerase associated 6
SynonymsTxndc7, CaBP5, P5, 1700015E05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02630
Quality Score
Status
Chromosome12
Chromosomal Location17266545-17284770 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17274421 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 91 (H91R)
Ref Sequence ENSEMBL: ENSMUSP00000052912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057288]
Predicted Effect probably benign
Transcript: ENSMUST00000057288
AA Change: H91R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: H91R

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 noncoding transcript
Transcript: ENSMUST00000159434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163000
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,012,077 V3575E probably damaging Het
Arfgef3 G A 10: 18,661,392 probably benign Het
Arhgap23 A G 11: 97,454,297 T631A probably benign Het
Chka T A 19: 3,892,112 H355Q possibly damaging Het
Ctsj C T 13: 61,001,400 A277T probably damaging Het
Ddx49 T C 8: 70,301,018 D67G probably damaging Het
Dennd4b T C 3: 90,272,977 S716P probably benign Het
Enpp5 G T 17: 44,082,875 D321Y probably damaging Het
Espl1 A G 15: 102,296,818 E17G probably benign Het
Fam161b G A 12: 84,353,914 P428L probably benign Het
Fbxw7 T C 3: 84,965,279 L256S probably damaging Het
Fgfr2 G T 7: 130,228,795 probably null Het
Foxred2 C T 15: 77,947,162 V484I probably benign Het
Gm4744 T A 6: 40,950,469 probably benign Het
Gm5724 T C 6: 141,723,110 Y532C probably damaging Het
Hipk2 T C 6: 38,818,521 N271S possibly damaging Het
Hist1h3a C T 13: 23,762,248 V36M probably benign Het
Ifna1 A G 4: 88,850,259 D58G possibly damaging Het
Igkv4-80 A T 6: 69,016,696 Y70* probably null Het
Ivns1abp G A 1: 151,359,635 R218H probably damaging Het
Kng1 A T 16: 23,079,845 probably benign Het
Lars T C 18: 42,257,169 D11G probably damaging Het
Lgals12 T C 19: 7,601,242 probably benign Het
Lpar4 T A X: 106,931,211 F334I probably benign Het
Muc5b G A 7: 141,863,231 G3305S probably benign Het
Nalcn T C 14: 123,317,879 D864G probably benign Het
Ndor1 T C 2: 25,255,287 E22G probably damaging Het
Nt5c2 T A 19: 46,924,310 M69L probably benign Het
Olfr1054 T C 2: 86,332,868 I163V probably benign Het
Olfr599 A C 7: 103,338,429 Y125S probably damaging Het
Pde12 A T 14: 26,666,397 H455Q probably damaging Het
Pdk4 A T 6: 5,491,671 I179K possibly damaging Het
Prl2c1 T C 13: 27,857,497 probably benign Het
Rasgrf2 C T 13: 92,131,392 E35K probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sash1 T A 10: 8,744,535 M454L probably benign Het
Secisbp2 C A 13: 51,678,906 T608K possibly damaging Het
Slmap A G 14: 26,422,431 V750A possibly damaging Het
Spaca6 T A 17: 17,831,089 L9Q probably damaging Het
Sycp1 T C 3: 102,878,764 probably benign Het
Sycp2 A T 2: 178,401,919 D131E probably damaging Het
Tc2n A T 12: 101,693,145 D176E probably damaging Het
Thoc7 T C 14: 13,953,154 I83V probably damaging Het
Trank1 T C 9: 111,373,075 V1590A possibly damaging Het
Tyrp1 T C 4: 80,840,757 V289A possibly damaging Het
Ube2dnl1 T A X: 114,905,786 C119* probably null Het
Vmn1r191 T A 13: 22,179,261 I108F possibly damaging Het
Zfp710 T A 7: 80,082,041 I322N probably damaging Het
Other mutations in Pdia6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Pdia6 APN 12 17270541 splice site probably benign
IGL01686:Pdia6 APN 12 17283957 unclassified probably benign
IGL01978:Pdia6 APN 12 17274422 missense possibly damaging 0.82
IGL02044:Pdia6 APN 12 17283226 missense probably damaging 0.98
IGL03102:Pdia6 APN 12 17281039 unclassified probably null
braum UTSW 12 17270456 missense probably damaging 1.00
R2126:Pdia6 UTSW 12 17278545 missense probably damaging 1.00
R3037:Pdia6 UTSW 12 17279645 missense probably damaging 1.00
R3768:Pdia6 UTSW 12 17270456 missense probably damaging 1.00
R3769:Pdia6 UTSW 12 17270456 missense probably damaging 1.00
R5639:Pdia6 UTSW 12 17278593 missense probably benign
R6230:Pdia6 UTSW 12 17277213 missense probably benign 0.08
R7305:Pdia6 UTSW 12 17274508 missense probably benign 0.20
R7427:Pdia6 UTSW 12 17278545 missense probably damaging 1.00
R7428:Pdia6 UTSW 12 17278545 missense probably damaging 1.00
R8013:Pdia6 UTSW 12 17273965 missense probably damaging 1.00
R8014:Pdia6 UTSW 12 17273965 missense probably damaging 1.00
Posted On2015-04-16