Incidental Mutation 'IGL00159:Erp27'
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ID1548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erp27
Ensembl Gene ENSMUSG00000030219
Gene Nameendoplasmic reticulum protein 27
Synonyms1810033M07Rik, 1810047B09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL00159
Quality Score
Status
Chromosome6
Chromosomal Location136907311-136922180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 136909502 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 178 (S178C)
Ref Sequence ENSEMBL: ENSMUSP00000032343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032343]
Predicted Effect probably damaging
Transcript: ENSMUST00000032343
AA Change: S178C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: S178C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Pfam:Thioredoxin_6 64 251 2.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162243
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 noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Sgcg C T 14: 61,232,475 D146N probably benign Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Erp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01976:Erp27 APN 6 136919989 missense probably damaging 0.99
IGL02348:Erp27 APN 6 136911546 missense probably damaging 1.00
R0452:Erp27 UTSW 6 136909489 missense probably damaging 1.00
R0498:Erp27 UTSW 6 136919864 unclassified probably benign
R2055:Erp27 UTSW 6 136908229 splice site probably benign
R3777:Erp27 UTSW 6 136919903 missense possibly damaging 0.67
R3778:Erp27 UTSW 6 136919903 missense possibly damaging 0.67
R4603:Erp27 UTSW 6 136919949 missense probably damaging 0.98
R4667:Erp27 UTSW 6 136908152 missense possibly damaging 0.90
R4668:Erp27 UTSW 6 136908152 missense possibly damaging 0.90
R5753:Erp27 UTSW 6 136919877 missense probably damaging 1.00
R5814:Erp27 UTSW 6 136911566 missense possibly damaging 0.48
R5864:Erp27 UTSW 6 136908100 missense probably benign 0.09
R6029:Erp27 UTSW 6 136911611 missense probably damaging 0.98
R6131:Erp27 UTSW 6 136908203 missense probably damaging 1.00
R7974:Erp27 UTSW 6 136908065 missense probably damaging 1.00
Z1177:Erp27 UTSW 6 136911646 critical splice acceptor site probably null
Posted On2011-07-12