Incidental Mutation 'R2431:Eri1'
ID 250407
Institutional Source Beutler Lab
Gene Symbol Eri1
Ensembl Gene ENSMUSG00000031527
Gene Name exoribonuclease 1
Synonyms Eri1, 3110010F15Rik, Thex1
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 35932419-35962687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35943632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 221 (Y221H)
Ref Sequence ENSEMBL: ENSMUSP00000033927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033927]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033927
AA Change: Y221H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033927
Gene: ENSMUSG00000031527
AA Change: Y221H

DomainStartEndE-ValueType
SAP 72 106 1.24e-5 SMART
EXOIII 125 311 4.63e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211536
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,343,230 (GRCm39) V504A probably benign Het
Atr T G 9: 95,744,945 (GRCm39) N87K probably benign Het
Auts2 A T 5: 132,287,887 (GRCm39) L32* probably null Het
Bptf A G 11: 106,938,066 (GRCm39) V2675A possibly damaging Het
Brdt C T 5: 107,525,881 (GRCm39) probably null Het
Ccdc162 T C 10: 41,445,841 (GRCm39) K444E probably benign Het
Cnot1 T C 8: 96,501,280 (GRCm39) D96G probably damaging Het
Cpq C A 15: 33,594,265 (GRCm39) Y425* probably null Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Focad T C 4: 88,249,264 (GRCm39) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm39) T284I probably benign Het
Isg15 C T 4: 156,285,158 (GRCm39) probably null Het
Ltbp4 T C 7: 27,019,101 (GRCm39) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or2a25 T C 6: 42,888,946 (GRCm39) L163S probably damaging Het
Or2ag19 T C 7: 106,444,598 (GRCm39) V260A possibly damaging Het
Or5b21 T C 19: 12,839,970 (GRCm39) V277A probably damaging Het
Or7g12 A G 9: 18,899,299 (GRCm39) N5S probably damaging Het
Piezo2 T C 18: 63,378,695 (GRCm39) H78R possibly damaging Het
Pkd1l1 T C 11: 8,897,197 (GRCm39) N121D probably damaging Het
Pkhd1 T C 1: 20,271,389 (GRCm39) T3055A possibly damaging Het
Ppp5c C T 7: 16,749,350 (GRCm39) V160M probably damaging Het
Ptpn23 G A 9: 110,215,347 (GRCm39) R1438* probably null Het
Ptpro G A 6: 137,420,583 (GRCm39) W183* probably null Het
Pygm T C 19: 6,443,815 (GRCm39) M592T probably damaging Het
Qdpr A G 5: 45,602,072 (GRCm39) V68A probably damaging Het
Rfc5 A C 5: 117,523,523 (GRCm39) S92A probably damaging Het
Ripor3 T C 2: 167,831,715 (GRCm39) Q362R probably benign Het
Ror1 G A 4: 100,298,352 (GRCm39) C575Y probably damaging Het
Skint9 T A 4: 112,246,464 (GRCm39) D216V probably damaging Het
Sox6 T C 7: 115,149,242 (GRCm39) probably null Het
Ugp2 A T 11: 21,279,025 (GRCm39) V387D probably damaging Het
Umodl1 T C 17: 31,211,062 (GRCm39) S747P possibly damaging Het
Vtcn1 A T 3: 100,732,893 (GRCm39) I7F possibly damaging Het
Zfp507 C T 7: 35,494,827 (GRCm39) R72H 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
R3862:Eri1 UTSW 8 35,958,448 (GRCm39) missense possibly damaging 0.85
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'- CTGTGAACAAGTGAATGTCAGG -3'
(R):5'- CTCCAGTTGATGTGTGCCTG -3'

Sequencing Primer
(F):5'- GGGAATATGTACCATCCTGAGAACTC -3'
(R):5'- TGTGCTGCAGGCTACAAG -3'
Posted On 2014-11-12