Incidental Mutation 'R3862:Eri1'
ID 276397
Institutional Source Beutler Lab
Gene Symbol Eri1
Ensembl Gene ENSMUSG00000031527
Gene Name exoribonuclease 1
Synonyms Eri1, 3110010F15Rik, Thex1
MMRRC Submission 040903-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3862 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 35932419-35962687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35958448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 61 (V61A)
Ref Sequence ENSEMBL: ENSMUSP00000033927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033927] [ENSMUST00000210483] [ENSMUST00000210884]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033927
AA Change: V61A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033927
Gene: ENSMUSG00000031527
AA Change: V61A

DomainStartEndE-ValueType
SAP 72 106 1.24e-5 SMART
EXOIII 125 311 4.63e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210483
Predicted Effect probably benign
Transcript: ENSMUST00000210884
Meta Mutation Damage Score 0.2556 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (36/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 G A 10: 80,143,393 (GRCm39) G498R possibly damaging Het
Bltp1 T A 3: 36,939,547 (GRCm39) F134I possibly damaging Het
Bub1 A G 2: 127,656,676 (GRCm39) probably benign Het
Cttnbp2 C T 6: 18,434,905 (GRCm39) V318M probably benign Het
D430041D05Rik T C 2: 104,044,522 (GRCm39) I825M possibly damaging Het
Enpp6 A G 8: 47,519,027 (GRCm39) Q265R probably benign Het
Evi2 T A 11: 79,406,472 (GRCm39) I368F probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fkbp9 A G 6: 56,845,890 (GRCm39) T409A probably benign Het
Gtpbp4 A G 13: 9,040,834 (GRCm39) V97A probably damaging Het
Hapln1 C T 13: 89,753,418 (GRCm39) Q195* probably null Het
Helt G T 8: 46,745,315 (GRCm39) N189K probably benign Het
Hint2 A G 4: 43,654,771 (GRCm39) V91A probably damaging Het
Ighv1-7 A G 12: 114,502,266 (GRCm39) I67T probably damaging Het
Kif26a A G 12: 112,146,323 (GRCm39) E1803G probably benign Het
Lrrd1 G A 5: 3,901,248 (GRCm39) V518I probably benign Het
Marchf11 C T 15: 26,387,952 (GRCm39) A269V probably damaging Het
Mep1b A G 18: 21,217,226 (GRCm39) N115S possibly damaging Het
Naif1 A G 2: 32,342,637 (GRCm39) R63G probably damaging Het
Nsmaf A G 4: 6,435,064 (GRCm39) I126T probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or52h7 G A 7: 104,214,145 (GRCm39) R239H probably benign Het
Or8g53 T A 9: 39,683,920 (GRCm39) M59L probably benign Het
Pcdhb3 A G 18: 37,436,329 (GRCm39) E765G probably damaging Het
Ppp4r4 C T 12: 103,562,680 (GRCm39) R550* probably null Het
Scgb2b3 C T 7: 31,061,430 (GRCm39) probably null Het
Sgcz T C 8: 37,990,565 (GRCm39) I263V probably benign Het
Slc15a1 C T 14: 121,722,269 (GRCm39) V211I probably benign Het
Slc25a21 G T 12: 56,764,920 (GRCm39) probably benign Het
Snrnp200 C A 2: 127,075,019 (GRCm39) probably benign Het
Spata31e5 T C 1: 28,816,722 (GRCm39) T437A probably damaging Het
Sptbn1 G T 11: 30,092,329 (GRCm39) Q479K possibly damaging Het
Stag1 T A 9: 100,826,838 (GRCm39) V935D probably benign Het
Veph1 C T 3: 66,162,313 (GRCm39) C115Y probably damaging Het
Zc3h12a T C 4: 125,020,732 (GRCm39) D37G probably benign Het
Zfand4 A T 6: 116,270,776 (GRCm39) probably benign Het
Other mutations in Eri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Eri1 APN 8 35,949,800 (GRCm39) missense probably benign
IGL00990:Eri1 APN 8 35,949,836 (GRCm39) missense possibly damaging 0.53
IGL01732:Eri1 APN 8 35,958,397 (GRCm39) missense possibly damaging 0.85
R1467:Eri1 UTSW 8 35,936,284 (GRCm39) makesense probably null
R1467:Eri1 UTSW 8 35,936,284 (GRCm39) makesense probably null
R1496:Eri1 UTSW 8 35,936,335 (GRCm39) missense possibly damaging 0.92
R2431:Eri1 UTSW 8 35,943,632 (GRCm39) missense probably damaging 1.00
R4330:Eri1 UTSW 8 35,936,383 (GRCm39) nonsense probably null
R4831:Eri1 UTSW 8 35,943,673 (GRCm39) missense possibly damaging 0.92
R5524:Eri1 UTSW 8 35,945,763 (GRCm39) missense probably benign 0.00
R6594:Eri1 UTSW 8 35,949,687 (GRCm39) missense probably damaging 1.00
R7043:Eri1 UTSW 8 35,945,792 (GRCm39) missense probably damaging 0.99
R7101:Eri1 UTSW 8 35,949,777 (GRCm39) missense probably damaging 0.98
R7626:Eri1 UTSW 8 35,941,554 (GRCm39) nonsense probably null
R8817:Eri1 UTSW 8 35,945,792 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GATCTCATGGGAGGAAATGTTTAC -3'
(R):5'- AAGGGGAGCCTTTCACTGTG -3'

Sequencing Primer
(F):5'- ACATGAGCAGGTACTACTTCTG -3'
(R):5'- AGCCTTTCACTGTGCGTGTAG -3'
Posted On 2015-04-06