Incidental Mutation 'IGL03033:Ero1lb'
ID408527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ero1lb
Ensembl Gene ENSMUSG00000057069
Gene NameERO1-like beta (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL03033
Quality Score
Status
Chromosome13
Chromosomal Location12565874-12611396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12581670 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 117 (Y117C)
Ref Sequence ENSEMBL: ENSMUSP00000152393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071973] [ENSMUST00000220811] [ENSMUST00000221560]
Predicted Effect probably damaging
Transcript: ENSMUST00000071973
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
AA Change: Y117C

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
Pfam:ERO1 56 456 2.5e-130 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220811
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221560
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221739
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased circulating glucose levels, decreased pancreas insulin levels, and disorganized islets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,518 T566S probably benign Het
Ap3b1 A G 13: 94,448,495 T405A probably benign Het
Bicd2 G T 13: 49,379,920 V587L probably benign Het
Bsn A T 9: 108,115,993 D853E probably damaging Het
Cacna1i C A 15: 80,362,239 N611K probably damaging Het
Capn11 A G 17: 45,642,547 L227P probably damaging Het
Copb2 A G 9: 98,570,373 N70S probably benign Het
Ddb1 T C 19: 10,625,926 V866A possibly damaging Het
Dst A G 1: 34,169,745 probably benign Het
Esyt1 T G 10: 128,516,383 R758S probably benign Het
Gm20441 A G 10: 75,771,492 F55S probably damaging Het
Gm20547 A T 17: 34,859,516 M362K probably damaging Het
Gucy1b2 A G 14: 62,415,944 V334A probably benign Het
Hnrnph3 A T 10: 63,018,179 F53L probably benign Het
Kcnk18 C T 19: 59,235,184 P254S probably benign Het
Lrfn5 T A 12: 61,840,047 L207Q probably damaging Het
Lrp3 T C 7: 35,202,627 M589V possibly damaging Het
Nlrp1b A G 11: 71,161,839 V918A probably benign Het
Nsg2 A G 11: 32,001,836 T29A probably damaging Het
Olfr66 T A 7: 103,881,517 H242L probably damaging Het
Pank4 C T 4: 154,974,715 T435I probably damaging Het
Prom1 C T 5: 44,006,160 probably null Het
Prr14 G T 7: 127,471,963 L3F probably damaging Het
Rfx7 A T 9: 72,532,989 probably benign Het
Rhbdl3 A G 11: 80,346,827 N295S probably damaging Het
Ripk3 A G 14: 55,787,165 probably benign Het
Ror1 A T 4: 100,411,895 N310I possibly damaging Het
Rpl23a T C 11: 78,181,582 Y74C possibly damaging Het
Rtp3 A T 9: 110,986,094 probably benign Het
Sbno1 A T 5: 124,376,150 N1326K probably damaging Het
Sepsecs T C 5: 52,660,676 N253S probably damaging Het
Setd2 A C 9: 110,551,275 E1386A possibly damaging Het
Sf3b3 T C 8: 110,810,964 I1211V possibly damaging Het
Sh3tc2 G A 18: 61,974,478 V187M possibly damaging Het
Slc30a6 G T 17: 74,409,378 E136* probably null Het
Sptan1 T A 2: 29,991,033 V438E probably damaging Het
Stab2 A G 10: 86,996,803 probably null Het
Sult2a1 T A 7: 13,832,710 probably benign Het
Tmem198 A G 1: 75,482,968 D189G possibly damaging Het
Tnfrsf8 C A 4: 145,292,649 L205F possibly damaging Het
Vmn1r68 T A 7: 10,528,147 E8V probably damaging Het
Wnk3 G A X: 151,276,928 D742N probably damaging Het
Xpc A T 6: 91,491,315 probably null Het
Zfp113 A T 5: 138,151,196 probably benign Het
Zfp120 A T 2: 150,119,874 D51E probably benign Het
Zfp473 C T 7: 44,733,098 V603M probably benign Het
Other mutations in Ero1lb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Ero1lb APN 13 12601734 critical splice acceptor site probably null
IGL02738:Ero1lb APN 13 12604433 missense possibly damaging 0.94
R0607:Ero1lb UTSW 13 12574866 missense probably damaging 1.00
R0801:Ero1lb UTSW 13 12581687 missense probably benign 0.10
R1665:Ero1lb UTSW 13 12579261 critical splice donor site probably null
R1851:Ero1lb UTSW 13 12604403 missense possibly damaging 0.61
R1928:Ero1lb UTSW 13 12601759 missense probably damaging 1.00
R2910:Ero1lb UTSW 13 12600289 missense probably damaging 1.00
R3719:Ero1lb UTSW 13 12583612 critical splice donor site probably null
R4873:Ero1lb UTSW 13 12604436 missense probably damaging 0.99
R4875:Ero1lb UTSW 13 12604436 missense probably damaging 0.99
R5053:Ero1lb UTSW 13 12599906 missense probably damaging 1.00
R5338:Ero1lb UTSW 13 12574851 missense probably damaging 1.00
R5415:Ero1lb UTSW 13 12601767 missense probably benign 0.02
R5800:Ero1lb UTSW 13 12602301 splice site probably null
R5907:Ero1lb UTSW 13 12600318 missense probably damaging 0.98
R5909:Ero1lb UTSW 13 12579258 missense probably benign 0.18
R6029:Ero1lb UTSW 13 12574833 missense probably damaging 1.00
R7234:Ero1lb UTSW 13 12600314 missense possibly damaging 0.72
R7331:Ero1lb UTSW 13 12600126 missense probably damaging 1.00
R7577:Ero1lb UTSW 13 12602365 missense probably damaging 0.99
R7726:Ero1lb UTSW 13 12605833 makesense probably null
Posted On2016-08-02