Incidental Mutation 'R5524:Eri1'
ID431751
Institutional Source Beutler Lab
Gene Symbol Eri1
Ensembl Gene ENSMUSG00000031527
Gene Nameexoribonuclease 1
SynonymsEri1, Thex1, 3110010F15Rik
MMRRC Submission 043082-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5524 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location35465253-35496196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35478609 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 174 (V174A)
Ref Sequence ENSEMBL: ENSMUSP00000033927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033927] [ENSMUST00000210483] [ENSMUST00000210884]
Predicted Effect probably benign
Transcript: ENSMUST00000033927
AA Change: V174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033927
Gene: ENSMUSG00000031527
AA Change: V174A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211536
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (76/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010L04Rik T A 7: 82,853,942 noncoding transcript Het
6030469F06Rik A G 12: 31,184,863 noncoding transcript Het
A830031A19Rik T A 11: 24,058,776 I13F unknown Het
Acsbg2 A C 17: 56,850,197 L309R probably damaging Het
Adam32 A T 8: 24,922,312 M76K probably damaging Het
Adamts14 C A 10: 61,230,443 R297L probably damaging Het
Agbl5 G A 5: 30,893,903 probably null Het
Asb14 A G 14: 26,900,451 K80E possibly damaging Het
Baiap2l1 T C 5: 144,280,949 T276A probably benign Het
Cacna1d G A 14: 30,042,129 P2127S probably benign Het
Ces2g A G 8: 104,966,895 T403A probably benign Het
Cgn A C 3: 94,779,989 M1R probably null Het
Chd5 T G 4: 152,376,630 S1226A probably benign Het
Col18a1 A G 10: 77,058,724 V1497A probably damaging Het
Cpd A T 11: 76,797,901 Y848* probably null Het
Cyp2a12 T C 7: 27,031,231 V207A probably benign Het
Cyth1 G A 11: 118,182,767 R247W probably benign Het
Derl3 T C 10: 75,894,490 V129A possibly damaging Het
Ehmt2 C T 17: 34,899,091 R40* probably null Het
Eml1 A T 12: 108,521,376 I518L probably damaging Het
Fgd3 T A 13: 49,277,577 I435F probably damaging Het
Foxd1 T G 13: 98,355,904 S429A unknown Het
Ftcd T A 10: 76,589,331 probably benign Het
Gm5478 G T 15: 101,644,667 N323K probably benign Het
Gnpda1 G T 18: 38,335,108 P45Q probably damaging Het
Kif20a G T 18: 34,630,625 probably null Het
Klrb1 T C 6: 128,712,333 probably null Het
Lcorl C A 5: 45,775,522 probably null Het
Lcorl T A 5: 45,775,523 probably null Het
Lrp1b T A 2: 41,110,888 K2108M probably damaging Het
Lyst C T 13: 13,746,779 P3437S probably benign Het
Macrod2 A T 2: 142,317,943 M349L possibly damaging Het
March7 T C 2: 60,245,303 probably benign Het
Mcm9 A T 10: 53,548,690 C601* probably null Het
Muc19 G T 15: 91,894,393 noncoding transcript Het
Mycbp2 T C 14: 103,295,237 D427G probably damaging Het
Nap1l5 C A 6: 58,906,778 V64L possibly damaging Het
Ncam2 C T 16: 81,434,878 R77* probably null Het
Npas3 T C 12: 54,068,938 V863A possibly damaging Het
Nr2c2 T A 6: 92,139,765 probably null Het
Olfr181 C T 16: 58,925,809 C254Y probably benign Het
Olfr43 A T 11: 74,206,583 L211Q probably damaging Het
Olfr44 C T 9: 39,484,987 V89M probably damaging Het
Oosp3 T C 19: 11,705,430 F56S possibly damaging Het
Plgrkt G A 19: 29,350,450 P78S probably damaging Het
Prss36 G A 7: 127,934,465 Q56* probably null Het
Ptprz1 A G 6: 22,986,318 probably null Het
Qsox2 A T 2: 26,217,687 F265I probably damaging Het
R3hcc1l G T 19: 42,563,868 E435* probably null Het
Shbg T C 11: 69,616,762 D163G probably benign Het
Skint7 T A 4: 111,980,349 L108H probably damaging Het
Smtnl1 T A 2: 84,818,894 E5D probably benign Het
Spock1 C T 13: 57,556,795 G120D probably damaging Het
Stk11ip G T 1: 75,532,327 C700F probably damaging Het
Sult4a1 C T 15: 84,089,958 probably null Het
Syngap1 A G 17: 26,957,152 H138R probably damaging Het
Tdrd7 A G 4: 46,034,301 K1016E probably benign Het
Tmem167b T C 3: 108,560,253 K26E possibly damaging Het
Tnfaip3 A G 10: 19,008,195 S146P probably damaging Het
Ttn C T 2: 76,776,716 V16242I possibly damaging Het
Vmn2r-ps3 T A 3: 64,053,449 noncoding transcript Het
Vps13c T C 9: 67,957,556 F3049S probably damaging Het
Vstm2l T C 2: 157,935,435 W78R probably damaging Het
Wbp1l C A 19: 46,654,256 A216D possibly damaging Het
Zer1 C G 2: 30,104,854 V510L probably damaging Het
Zfp28 A T 7: 6,394,851 probably null Het
Zfp352 C A 4: 90,225,104 P494T possibly damaging Het
Zfp353-ps A G 8: 42,082,563 noncoding transcript Het
Zfp563 A T 17: 33,102,541 probably null Het
Zim1 T C 7: 6,677,321 N448D 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
IGL01732:Eri1 APN 8 35491243 missense possibly damaging 0.85
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
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
Predicted Primers PCR Primer
(F):5'- CAGCATTTACCAGCTCTAAGGC -3'
(R):5'- GAAGGTGCGCTTTCAGACAC -3'

Sequencing Primer
(F):5'- TGGATTGTGAGCCACCACATG -3'
(R):5'- TCAGACACCTGCTAACTTGATG -3'
Posted On2016-10-05