Incidental Mutation 'IGL01978:Pdia6'
ID181768
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 #IGL01978
Quality Score
Status
Chromosome12
Chromosomal Location17266545-17284770 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17274422 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 91 (H91Q)
Ref Sequence ENSEMBL: ENSMUSP00000052912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057288]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057288
AA Change: H91Q

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: H91Q

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G 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
IGL02044:Pdia6 APN 12 17283226 missense probably damaging 0.98
IGL02630:Pdia6 APN 12 17274421 missense probably benign 0.45
IGL03102:Pdia6 APN 12 17281039 splice site 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
R8696:Pdia6 UTSW 12 17279661 missense probably damaging 1.00
R8724:Pdia6 UTSW 12 17283981 missense unknown
Posted On2014-05-07