Incidental Mutation 'IGL00678:Eri3'
ID10537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eri3
Ensembl Gene ENSMUSG00000033423
Gene Nameexoribonuclease 3
SynonymsPINT1, Prnpip1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00678
Quality Score
Status
Chromosome4
Chromosomal Location117550365-117674297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117564891 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 122 (H122R)
Ref Sequence ENSEMBL: ENSMUSP00000117034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000144373]
Predicted Effect probably benign
Transcript: ENSMUST00000037127
AA Change: H161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: H161R

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
EXOIII 145 329 1.17e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144373
AA Change: H122R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: H122R

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
Pfam:RNase_T 108 163 3.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146384
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b T C 2: 60,006,183 E2G unknown Het
Bbs2 T A 8: 94,089,167 probably null Het
Cdk14 T C 5: 5,249,237 probably benign Het
Cubn A T 2: 13,467,710 I477N possibly damaging Het
Dtl A C 1: 191,546,626 probably null Het
Ercc6l2 T A 13: 63,844,613 V292E probably damaging Het
Glrx3 T A 7: 137,452,713 V75D probably damaging Het
Ifi213 A G 1: 173,594,053 probably benign Het
Ppp1cb T A 5: 32,485,338 probably benign Het
Rb1cc1 A G 1: 6,234,085 T66A probably damaging Het
Slco6d1 A G 1: 98,496,344 S574G probably benign Het
Tas2r136 A T 6: 132,777,198 L322Q probably damaging Het
Tead1 A G 7: 112,841,880 probably null Het
Tsfm G A 10: 127,028,442 Q135* probably null Het
Other mutations in Eri3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Eri3 APN 4 117589159 critical splice donor site probably null
IGL01781:Eri3 APN 4 117564677 missense probably benign 0.00
IGL02737:Eri3 APN 4 117564860 missense probably damaging 1.00
IGL02969:Eri3 APN 4 117649311 missense probably damaging 1.00
chewed_out UTSW 4 117649407 critical splice donor site probably null
PIT4280001:Eri3 UTSW 4 117582634 missense probably damaging 1.00
R0720:Eri3 UTSW 4 117553045 critical splice donor site probably null
R0993:Eri3 UTSW 4 117564663 missense possibly damaging 0.85
R1331:Eri3 UTSW 4 117564907 splice site probably benign
R1538:Eri3 UTSW 4 117582639 missense possibly damaging 0.92
R1854:Eri3 UTSW 4 117649365 missense probably benign 0.01
R1971:Eri3 UTSW 4 117564767 missense probably benign 0.10
R5340:Eri3 UTSW 4 117673794 missense probably damaging 0.99
R5511:Eri3 UTSW 4 117615189 missense possibly damaging 0.90
R5569:Eri3 UTSW 4 117649356 missense possibly damaging 0.90
R6052:Eri3 UTSW 4 117564628 missense probably damaging 0.99
R7140:Eri3 UTSW 4 117649407 critical splice donor site probably null
R7187:Eri3 UTSW 4 117589146 missense probably benign 0.03
R7268:Eri3 UTSW 4 117649383 missense probably benign
Posted On2012-12-06