Incidental Mutation 'IGL02737:Eri3'
ID305689
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 #IGL02737
Quality Score
Status
Chromosome4
Chromosomal Location117550365-117674297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117564860 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 112 (F112L)
Ref Sequence ENSEMBL: ENSMUSP00000117034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000144373]
Predicted Effect probably damaging
Transcript: ENSMUST00000037127
AA Change: F151L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: F151L

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 damaging
Transcript: ENSMUST00000144373
AA Change: F112L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: F112L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110051M20Rik T A 2: 91,304,797 Q9L probably damaging Het
4932414N04Rik T A 2: 68,736,560 H434Q possibly damaging Het
5430401F13Rik A T 6: 131,552,592 I50L probably benign Het
Ahnak G A 19: 9,004,593 M1080I probably benign Het
Aoc1 A G 6: 48,907,643 K540R probably benign Het
Aplp2 T C 9: 31,153,416 M585V probably benign Het
C3 A G 17: 57,204,281 L1607P probably benign Het
C6 A G 15: 4,796,914 K660E probably benign Het
Cabin1 T C 10: 75,713,585 T1329A probably benign Het
Ccdc141 T A 2: 77,057,924 N499I probably damaging Het
Cdh5 A G 8: 104,142,928 D762G probably damaging Het
Cep152 T C 2: 125,586,474 R746G possibly damaging Het
Cps1 A T 1: 67,148,774 Q198L probably benign Het
D10Wsu102e T A 10: 83,364,445 M90K probably damaging Het
Fam180a C A 6: 35,313,553 R165L probably benign Het
Fam205a1 C A 4: 42,849,431 L908F possibly damaging Het
Fkbp10 A C 11: 100,422,655 I252L probably benign Het
Gtf2f1 G T 17: 57,003,918 Q410K possibly damaging Het
Hmcn1 T C 1: 150,563,828 Y5535C probably damaging Het
Ifrd2 T A 9: 107,592,170 D372E probably benign Het
Il3ra A G 14: 14,350,760 N165S probably benign Het
Kntc1 A G 5: 123,819,120 N2164S probably benign Het
Krtap19-9a A G 16: 88,924,211 noncoding transcript Het
Olfr103 T A 17: 37,336,773 H153L possibly damaging Het
Pclo T C 5: 14,714,163 S4217P unknown Het
Ppfibp1 G A 6: 147,027,308 V798I probably damaging Het
Prune2 A T 19: 17,193,411 R165* probably null Het
Ptges T C 2: 30,892,686 Y118C probably damaging Het
Rab11fip5 C A 6: 85,348,558 G289W probably damaging Het
Rfc1 T C 5: 65,311,163 D69G possibly damaging Het
Scube1 A G 15: 83,721,843 probably benign Het
Slc5a6 G A 5: 31,037,167 P565L probably benign Het
Sncaip C A 18: 52,907,056 T774K probably benign Het
Specc1l G A 10: 75,246,324 S535N probably damaging Het
Tbk1 C T 10: 121,559,862 G442E probably null Het
Thoc7 A T 14: 13,953,443 M78K possibly damaging Het
Usp15 A G 10: 123,131,032 F461S probably damaging Het
Vmn2r6 T A 3: 64,556,490 I308L possibly damaging Het
Zhx2 C A 15: 57,822,267 T344N 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
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 On2015-04-16