Incidental Mutation 'IGL01781:Eri3'
ID153924
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 #IGL01781
Quality Score
Status
Chromosome4
Chromosomal Location117550365-117674297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117564677 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 51 (F51L)
Ref Sequence ENSEMBL: ENSMUSP00000117034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000144373]
Predicted Effect probably benign
Transcript: ENSMUST00000037127
AA Change: F90L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: F90L

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: F51L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: F51L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,280 I3618N probably damaging Het
Acss1 A G 2: 150,637,872 L305P probably damaging Het
Alox12e A T 11: 70,321,456 L132Q probably damaging Het
Atp6v0a4 T C 6: 38,074,160 N428D possibly damaging Het
Ccdc80 C T 16: 45,126,130 H811Y probably damaging Het
Cgn T C 3: 94,773,205 M596V probably benign Het
Cpn1 T A 19: 43,966,218 E323V possibly damaging Het
Cul9 A G 17: 46,539,304 S447P probably benign Het
Cyp2f2 A T 7: 27,130,421 Y182F probably benign Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Fgd5 A G 6: 91,988,717 S486G possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13101 C A 4: 143,965,729 C234F probably benign Het
Ifna4 T C 4: 88,842,152 S98P probably damaging Het
Impg2 A G 16: 56,252,225 K340R probably benign Het
Man2b2 T C 5: 36,813,745 N759S possibly damaging Het
Mfsd1 A G 3: 67,587,911 probably benign Het
Olfr716 T A 7: 107,147,696 C127S probably damaging Het
Pdcd6ip G T 9: 113,691,498 N139K probably damaging Het
Peak1 A T 9: 56,260,065 I193N possibly damaging Het
Psg27 T A 7: 18,565,064 T111S probably damaging Het
Ptprs G A 17: 56,435,676 L489F probably damaging Het
Rpgrip1l A G 8: 91,270,218 V76A probably benign Het
Scd1 A T 19: 44,400,348 M221K possibly damaging Het
Slc38a7 A G 8: 95,843,758 probably null Het
Spon2 T C 5: 33,215,560 D266G probably benign Het
Spry4 C T 18: 38,590,425 G95D probably damaging Het
Supt20 A G 3: 54,695,205 M1V probably null Het
Tmem55a T C 4: 14,893,566 L143S probably damaging Het
Trappc11 A C 8: 47,514,128 F404V possibly damaging Het
Vmn1r178 C A 7: 23,894,009 Q161K probably damaging Het
Vmn2r25 T C 6: 123,839,365 E419G possibly damaging Het
Vstm5 A G 9: 15,257,672 H146R 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
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 On2014-02-04