Incidental Mutation 'IGL02395:Eri2'
ID 294300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eri2
Ensembl Gene ENSMUSG00000030929
Gene Name exoribonuclease 2
Synonyms Exod1, 4933424N09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # IGL02395
Quality Score
Status
Chromosome 7
Chromosomal Location 119383049-119393283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119387033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 162 (E162G)
Ref Sequence ENSEMBL: ENSMUSP00000120547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000150844] [ENSMUST00000139192] [ENSMUST00000106529] [ENSMUST00000106528]
AlphaFold Q5BKS4
Predicted Effect probably benign
Transcript: ENSMUST00000033224
Predicted Effect probably benign
Transcript: ENSMUST00000063770
SMART Domains Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000063902
AA Change: E162G

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929
AA Change: E162G

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
transmembrane domain 245 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106523
AA Change: E162G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929
AA Change: E162G

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106526
SMART Domains Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106527
SMART Domains Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150844
AA Change: E162G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
AA Change: E162G

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 possibly damaging
Transcript: ENSMUST00000139192
AA Change: E134G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
AA Change: E134G

DomainStartEndE-ValueType
Pfam:RNase_T 21 160 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125595
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: ENSMUST00000106528
SMART Domains Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,617,496 (GRCm39) C540S probably damaging Het
Cdk5 A G 5: 24,624,635 (GRCm39) V252A possibly damaging Het
Ddi2 C T 4: 141,422,725 (GRCm39) R329Q possibly damaging Het
Dennd2c T A 3: 103,065,081 (GRCm39) F678I probably benign Het
Ect2 T C 3: 27,204,255 (GRCm39) D18G probably damaging Het
Efcab11 C A 12: 99,820,868 (GRCm39) probably null Het
Fam120b T C 17: 15,622,777 (GRCm39) S252P probably damaging Het
Filip1 G A 9: 79,805,692 (GRCm39) P21S probably benign Het
Kmt5b T A 19: 3,864,887 (GRCm39) D627E probably benign Het
Krt87 T C 15: 101,385,833 (GRCm39) D254G probably benign Het
Man1a2 T C 3: 100,551,853 (GRCm39) probably null Het
Mapk15 T C 15: 75,870,019 (GRCm39) S380P probably benign Het
Mrpl48 G T 7: 100,195,551 (GRCm39) probably benign Het
Nme8 T A 13: 19,862,078 (GRCm39) I184L possibly damaging Het
Nrk A G X: 137,876,935 (GRCm39) E712G probably damaging Het
Or4c110 T A 2: 88,832,507 (GRCm39) T42S probably benign Het
Or4k6 C A 14: 50,475,886 (GRCm39) G152V probably damaging Het
Or5m5 A G 2: 85,814,426 (GRCm39) T81A possibly damaging Het
Or6z6 C T 7: 6,491,802 (GRCm39) V17M possibly damaging Het
Plekho1 A T 3: 95,902,876 (GRCm39) Y36* probably null Het
Slco1a5 T A 6: 142,221,213 (GRCm39) H11L probably damaging Het
Tiam2 T A 17: 3,471,756 (GRCm39) M466K possibly damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tnfrsf22 A T 7: 143,197,053 (GRCm39) N95K probably damaging Het
Vmn1r90 T C 7: 14,295,822 (GRCm39) Y92C probably damaging Het
Zc2hc1a T A 3: 7,593,684 (GRCm39) L214* probably null Het
Zcchc17 C A 4: 130,230,920 (GRCm39) V90F probably damaging Het
Zcchc7 T C 4: 44,761,868 (GRCm39) probably benign Het
Zmiz1 T C 14: 25,657,187 (GRCm39) V821A probably damaging 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
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
R1192:Eri2 UTSW 7 119,391,540 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16