Incidental Mutation 'IGL03327:A430105I19Rik'
ID416691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A430105I19Rik
Ensembl Gene ENSMUSG00000045838
Gene NameRIKEN cDNA A430105I19 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03327
Quality Score
Status
Chromosome2
Chromosomal Location118754158-118762661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118761670 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 79 (N79S)
Ref Sequence ENSEMBL: ENSMUSP00000051853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059997]
Predicted Effect probably damaging
Transcript: ENSMUST00000059997
AA Change: N79S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051853
Gene: ENSMUSG00000045838
AA Change: N79S

DomainStartEndE-ValueType
coiled coil region 52 100 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
Pfam:DUF4594 185 361 1.2e-64 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 535 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151270
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Kifc3 C T 8: 95,108,432 D242N probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr1278 A T 2: 111,292,462 N65Y probably damaging Het
Olfr815 T G 10: 129,902,582 I43L possibly damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign Het
Other mutations in A430105I19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:A430105I19Rik APN 2 118759689 missense possibly damaging 0.94
R1269:A430105I19Rik UTSW 2 118761390 missense possibly damaging 0.65
R1453:A430105I19Rik UTSW 2 118757422 missense possibly damaging 0.91
R1495:A430105I19Rik UTSW 2 118760532 missense probably damaging 1.00
R1529:A430105I19Rik UTSW 2 118761760 critical splice acceptor site probably null
R1765:A430105I19Rik UTSW 2 118760647 missense probably benign 0.02
R4766:A430105I19Rik UTSW 2 118759577 missense probably damaging 1.00
R5445:A430105I19Rik UTSW 2 118759586 missense probably damaging 1.00
R5891:A430105I19Rik UTSW 2 118761383 missense probably damaging 1.00
R5895:A430105I19Rik UTSW 2 118759617 missense probably benign 0.02
R7271:A430105I19Rik UTSW 2 118760683 critical splice acceptor site probably null
Posted On2016-08-02