Incidental Mutation 'R1192:Eri2'
ID 100882
Institutional Source Beutler Lab
Gene Symbol Eri2
Ensembl Gene ENSMUSG00000030929
Gene Name exoribonuclease 2
Synonyms Exod1, 4933424N09Rik
MMRRC Submission 039264-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R1192 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119383049-119393283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119391540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 41 (D41E)
Ref Sequence ENSEMBL: ENSMUSP00000120547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033218] [ENSMUST00000033224] [ENSMUST00000063902] [ENSMUST00000084644] [ENSMUST00000106520] [ENSMUST00000106523] [ENSMUST00000150844] [ENSMUST00000133758] [ENSMUST00000106529] [ENSMUST00000139192]
AlphaFold Q5BKS4
Predicted Effect probably benign
Transcript: ENSMUST00000033218
SMART Domains Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924

DomainStartEndE-ValueType
low complexity region 105 116 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
Pfam:RNase_T 225 330 1.4e-12 PFAM
Blast:RRM 424 463 5e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000033224
Predicted Effect probably damaging
Transcript: ENSMUST00000063902
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: D41E

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
transmembrane domain 245 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084644
SMART Domains Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924

DomainStartEndE-ValueType
EXOIII 31 189 2.72e-29 SMART
RRM 298 367 3.23e-9 SMART
Blast:RRM 393 437 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106520
SMART Domains Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924

DomainStartEndE-ValueType
low complexity region 105 116 N/A INTRINSIC
low complexity region 123 134 N/A INTRINSIC
EXOIII 223 381 2.72e-29 SMART
RRM 491 560 3.23e-9 SMART
RRM 586 661 3.28e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106523
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: D41E

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150844
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: D41E

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
low complexity region 362 381 N/A INTRINSIC
Pfam:zf-GRF 592 640 1.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133926
Predicted Effect probably benign
Transcript: ENSMUST00000133758
Predicted Effect probably benign
Transcript: ENSMUST00000106529
SMART Domains Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 1.1e-78 PFAM
Pfam:AMP-binding_C 486 566 9.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139192
SMART Domains Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
Pfam:RNase_T 21 160 1.2e-13 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahrr T A 13: 74,362,522 (GRCm39) M326L probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankmy1 T C 1: 92,811,616 (GRCm39) T591A probably damaging Het
Anks4b A T 7: 119,773,289 (GRCm39) I50L probably benign Het
Arhgef3 C A 14: 27,101,663 (GRCm39) T133N probably damaging Het
Arrdc1 T C 2: 24,816,152 (GRCm39) I284V probably benign Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Ccdc88a T A 11: 29,454,049 (GRCm39) D717E possibly damaging Het
Cdh22 A T 2: 164,977,203 (GRCm39) F439I probably damaging Het
Creld1 G T 6: 113,466,440 (GRCm39) C169F probably damaging Het
Ctsq T A 13: 61,186,859 (GRCm39) N78I probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Exosc9 C T 3: 36,606,904 (GRCm39) probably benign Het
Galnt14 C T 17: 73,852,133 (GRCm39) probably benign Het
Gen1 C T 12: 11,305,219 (GRCm39) G192D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ints14 T C 9: 64,874,045 (GRCm39) V99A possibly damaging Het
Iqsec1 G A 6: 90,648,958 (GRCm39) probably benign Het
Jarid2 G T 13: 45,060,021 (GRCm39) R713L probably damaging Het
Nans T C 4: 46,502,430 (GRCm39) probably benign Het
Nkiras2 T C 11: 100,516,806 (GRCm39) probably null Het
Obscn A T 11: 58,958,025 (GRCm39) D3558E probably benign Het
Or6c66 C T 10: 129,461,906 (GRCm39) S8N probably benign Het
Palb2 G A 7: 121,727,432 (GRCm39) T146M probably benign Het
Pcgf3 T C 5: 108,634,054 (GRCm39) V104A probably benign Het
Polr3e A G 7: 120,532,531 (GRCm39) D189G probably benign Het
Rfc1 T C 5: 65,451,254 (GRCm39) K278R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Shcbp1l T A 1: 153,301,253 (GRCm39) I95N possibly damaging Het
Shox2 G A 3: 66,881,243 (GRCm39) Q246* probably null Het
Slc16a4 G C 3: 107,206,189 (GRCm39) E86D probably benign Het
Tubgcp2 A G 7: 139,609,751 (GRCm39) V202A probably benign Het
Other mutations in Eri2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Eri2 APN 7 119,386,964 (GRCm39) missense probably benign 0.44
IGL00987:Eri2 APN 7 119,390,389 (GRCm39) missense probably damaging 1.00
IGL01139:Eri2 APN 7 119,385,960 (GRCm39) critical splice donor site probably null
IGL01476:Eri2 APN 7 119,389,472 (GRCm39) missense probably damaging 1.00
IGL02019:Eri2 APN 7 119,385,303 (GRCm39) nonsense probably null
IGL02208:Eri2 APN 7 119,385,158 (GRCm39) missense probably benign 0.00
IGL02395:Eri2 APN 7 119,387,033 (GRCm39) missense probably damaging 0.98
IGL02405:Eri2 APN 7 119,384,705 (GRCm39) missense probably damaging 1.00
IGL02646:Eri2 APN 7 119,385,331 (GRCm39) missense possibly damaging 0.87
IGL02659:Eri2 APN 7 119,386,665 (GRCm39) missense probably damaging 0.98
alien UTSW 7 119,390,397 (GRCm39) missense probably damaging 1.00
extraterrestrial UTSW 7 119,393,139 (GRCm39) critical splice donor site probably null
G5030:Eri2 UTSW 7 119,385,601 (GRCm39) missense possibly damaging 0.58
K7894:Eri2 UTSW 7 119,384,494 (GRCm39) missense probably benign 0.39
PIT4434001:Eri2 UTSW 7 119,385,524 (GRCm39) missense probably benign 0.00
R0152:Eri2 UTSW 7 119,389,606 (GRCm39) missense probably damaging 1.00
R0378:Eri2 UTSW 7 119,393,139 (GRCm39) critical splice donor site probably null
R0532:Eri2 UTSW 7 119,385,206 (GRCm39) missense probably benign 0.22
R0630:Eri2 UTSW 7 119,385,640 (GRCm39) missense probably benign 0.27
R1416:Eri2 UTSW 7 119,390,397 (GRCm39) missense probably damaging 1.00
R1884:Eri2 UTSW 7 119,390,346 (GRCm39) missense probably benign 0.12
R2173:Eri2 UTSW 7 119,385,766 (GRCm39) missense possibly damaging 0.67
R2961:Eri2 UTSW 7 119,384,567 (GRCm39) missense probably benign
R3805:Eri2 UTSW 7 119,385,231 (GRCm39) nonsense probably null
R3807:Eri2 UTSW 7 119,385,231 (GRCm39) nonsense probably null
R4534:Eri2 UTSW 7 119,389,466 (GRCm39) missense probably damaging 1.00
R4738:Eri2 UTSW 7 119,386,955 (GRCm39) critical splice donor site probably null
R4776:Eri2 UTSW 7 119,384,169 (GRCm39) utr 3 prime probably benign
R4780:Eri2 UTSW 7 119,384,903 (GRCm39) missense probably benign 0.43
R5037:Eri2 UTSW 7 119,384,897 (GRCm39) missense probably benign
R5260:Eri2 UTSW 7 119,387,069 (GRCm39) splice site probably benign
R5315:Eri2 UTSW 7 119,385,241 (GRCm39) missense probably benign 0.00
R5884:Eri2 UTSW 7 119,371,552 (GRCm39) makesense probably null
R5927:Eri2 UTSW 7 119,385,291 (GRCm39) missense probably damaging 1.00
R6937:Eri2 UTSW 7 119,386,012 (GRCm39) missense probably damaging 0.96
R7296:Eri2 UTSW 7 119,385,739 (GRCm39) nonsense probably null
R7302:Eri2 UTSW 7 119,386,009 (GRCm39) missense probably benign 0.38
R7480:Eri2 UTSW 7 119,385,734 (GRCm39) nonsense probably null
R7494:Eri2 UTSW 7 119,385,304 (GRCm39) missense probably damaging 0.99
R7524:Eri2 UTSW 7 119,384,972 (GRCm39) missense probably benign 0.00
R8187:Eri2 UTSW 7 119,384,767 (GRCm39) missense probably damaging 1.00
R8373:Eri2 UTSW 7 119,371,820 (GRCm39) missense probably benign 0.02
R8551:Eri2 UTSW 7 119,387,062 (GRCm39) splice site probably null
R9710:Eri2 UTSW 7 119,384,824 (GRCm39) missense probably benign
R9720:Eri2 UTSW 7 119,386,976 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTATTCCAATACCCAAAGCAGTGAGA -3'
(R):5'- AGTTACACCAGCAAGTGGAAATCCAG -3'

Sequencing Primer
(F):5'- GCAAAGTTATAATAAAGCTGTGCC -3'
(R):5'- TCCAGGAGGGAGCAGATTG -3'
Posted On 2014-01-15