Incidental Mutation 'IGL01732:Eri1'
ID105535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eri1
Ensembl Gene ENSMUSG00000031527
Gene Nameexoribonuclease 1
SynonymsEri1, Thex1, 3110010F15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01732
Quality Score
Status
Chromosome8
Chromosomal Location35465253-35496196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35491243 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 12 (E12G)
Ref Sequence ENSEMBL: ENSMUSP00000148099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033927] [ENSMUST00000210483] [ENSMUST00000210884]
Predicted Effect probably benign
Transcript: ENSMUST00000033927
AA Change: E78G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033927
Gene: ENSMUSG00000031527
AA Change: E78G

DomainStartEndE-ValueType
SAP 72 106 1.24e-5 SMART
EXOIII 125 311 4.63e-23 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000210483
AA Change: E12G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210884
AA Change: E12G

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, decreased body size beginning at E15.5, and decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,642,160 E341* probably null Het
Alpk3 A G 7: 81,057,642 R5G unknown Het
Arhgef10l C T 4: 140,580,415 V113M probably damaging Het
Brca2 T A 5: 150,542,387 I1872K probably benign Het
Cdk17 C A 10: 93,218,045 P134T probably benign Het
Cerk A G 15: 86,146,316 S35P possibly damaging Het
Cfap126 T C 1: 171,126,736 V174A possibly damaging Het
Cfhr1 T C 1: 139,550,868 T255A probably benign Het
Clcn1 A G 6: 42,310,672 probably benign Het
Copz1 A G 15: 103,297,891 E151G probably benign Het
Cubn G A 2: 13,489,936 Q101* probably null Het
Fam71f2 A T 6: 29,285,980 H146L probably damaging Het
Fut9 A G 4: 25,619,867 F316L possibly damaging Het
Gm973 A G 1: 59,630,237 I816V probably benign Het
Itln1 A G 1: 171,534,780 M11T probably benign Het
Klc2 C T 19: 5,109,797 R458Q probably damaging Het
Lrrc8b A T 5: 105,485,960 E766V probably damaging Het
Mmadhc A T 2: 50,281,185 I205N probably damaging Het
Myo10 A G 15: 25,732,063 I342V probably benign Het
Ncapg T A 5: 45,693,853 V796D probably damaging Het
Olfm3 A C 3: 115,097,000 D134A possibly damaging Het
Olfr402 T C 11: 74,155,453 C100R probably damaging Het
Olfr574 T A 7: 102,949,239 I248N probably damaging Het
Olfr661 T C 7: 104,688,336 M107T possibly damaging Het
Phldb3 A G 7: 24,627,326 E593G probably damaging Het
Plcg1 T A 2: 160,747,779 D74E probably damaging Het
Plekhm3 T C 1: 64,922,248 D283G probably benign Het
Pnpla6 C A 8: 3,522,616 T279N probably damaging Het
Prkcq G A 2: 11,260,833 probably benign Het
Rbm11 G A 16: 75,600,622 A147T probably benign Het
Rnf103 A G 6: 71,510,382 K666E probably damaging Het
Selenos A G 7: 66,080,389 Y45C probably damaging Het
Sept11 A G 5: 93,161,226 Y255C probably damaging Het
Serpinb3c T C 1: 107,271,972 H273R probably benign Het
Slc35f2 A G 9: 53,806,625 D141G probably damaging Het
Sntg2 A T 12: 30,312,649 Y33N probably damaging Het
Snx19 C A 9: 30,462,353 T904K probably damaging Het
Tenm4 A G 7: 96,895,509 Y2244C probably damaging Het
Tescl A G 7: 24,333,447 V151A probably damaging Het
Tnrc18 C T 5: 142,772,061 V902M unknown Het
Trmt13 A G 3: 116,581,464 L465S probably damaging Het
Ube2j2 T G 4: 155,957,331 V249G probably damaging Het
Zan T C 5: 137,393,011 K4737R unknown Het
Zc3h6 T C 2: 129,011,875 I430T probably damaging Het
Zfp750 G A 11: 121,512,993 S352L probably benign Het
Zfp819 A G 7: 43,616,422 K34E probably benign Het
Other mutations in Eri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Eri1 APN 8 35482682 missense possibly damaging 0.53
IGL00990:Eri1 APN 8 35482646 missense probably benign
R1467:Eri1 UTSW 8 35469130 makesense probably null
R1467:Eri1 UTSW 8 35469130 makesense probably null
R1496:Eri1 UTSW 8 35469181 missense possibly damaging 0.92
R2431:Eri1 UTSW 8 35476478 missense probably damaging 1.00
R3862:Eri1 UTSW 8 35491294 missense possibly damaging 0.85
R4330:Eri1 UTSW 8 35469229 nonsense probably null
R4831:Eri1 UTSW 8 35476519 missense possibly damaging 0.92
R5524:Eri1 UTSW 8 35478609 missense probably benign 0.00
R6594:Eri1 UTSW 8 35482533 missense probably damaging 1.00
R7043:Eri1 UTSW 8 35478638 missense probably damaging 0.99
R7101:Eri1 UTSW 8 35482623 missense probably damaging 0.98
R7626:Eri1 UTSW 8 35474400 nonsense probably null
R8817:Eri1 UTSW 8 35478638 missense probably damaging 0.99
Posted On2014-01-21