Incidental Mutation 'IGL02969:Eri3'
ID365720
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? Probably non essential (E-score: 0.121) question?
Stock #IGL02969
Quality Score
Status
Chromosome4
Chromosomal Location117550365-117674297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117649311 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 279 (Y279C)
Ref Sequence ENSEMBL: ENSMUSP00000042796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127]
Predicted Effect probably damaging
Transcript: ENSMUST00000037127
AA Change: Y279C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: Y279C

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 noncoding transcript
Transcript: ENSMUST00000134379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146384
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,220,237 probably benign Het
1700061G19Rik A T 17: 56,883,751 T440S probably damaging Het
Akap12 T A 10: 4,354,864 V558E probably damaging Het
Atg4c T C 4: 99,258,387 probably benign Het
Atg7 T A 6: 114,724,923 N673K possibly damaging Het
BC005561 C T 5: 104,519,343 T577I probably benign Het
Brpf3 A G 17: 28,821,305 D900G probably benign Het
C2cd5 T C 6: 143,079,943 Y176C probably damaging Het
Cep70 A T 9: 99,298,504 I571F possibly damaging Het
Cir1 C T 2: 73,303,776 G150R probably null Het
Cyp46a1 T C 12: 108,343,037 V68A probably damaging Het
Dlgap2 A G 8: 14,831,579 T883A possibly damaging Het
Dnah2 C A 11: 69,521,187 K249N possibly damaging Het
Dnajc11 A G 4: 151,978,046 K434R probably benign Het
Gm3259 C T 5: 95,341,399 P234S probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ilk A G 7: 105,740,340 K85E possibly damaging Het
Insrr G T 3: 87,814,191 G1135* probably null Het
Itgax T A 7: 128,149,123 M1108K probably benign Het
Mpzl3 C T 9: 45,068,216 T155I probably benign Het
Olfr1308 A T 2: 111,960,567 C169S probably damaging Het
Olfr805 A T 10: 129,723,196 M116K probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polr2h A G 16: 20,719,057 Y68C probably damaging Het
Rhobtb3 A G 13: 75,943,431 S2P probably damaging Het
Slc24a5 T C 2: 125,083,227 S263P probably damaging Het
Spz1 T G 13: 92,575,343 K208N possibly damaging Het
Tbpl2 C A 2: 24,091,093 C231F probably damaging Het
Tdrd6 T C 17: 43,627,549 I869M probably damaging Het
Tesk1 G A 4: 43,447,027 E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 C471* probably null Het
Tmem213 T A 6: 38,115,666 V111E probably damaging Het
Tmem232 A T 17: 65,256,563 Y612N possibly damaging Het
Ttn T C 2: 76,899,363 probably benign Het
Vmn2r113 G A 17: 22,958,617 V792I probably benign Het
Wdfy1 A G 1: 79,713,871 V273A probably benign Het
Wwp1 A G 4: 19,623,200 S762P probably damaging Het
Other mutations in Eri3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Eri3 APN 4 117564891 missense probably benign 0.00
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
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
Posted On2015-12-18