Incidental Mutation 'IGL01904:4933402N22Rik'
ID179620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933402N22Rik
Ensembl Gene ENSMUSG00000067848
Gene NameRIKEN cDNA 4933402N22 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01904
Quality Score
Status
Chromosome5
Chromosomal Location11918043-11922821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 11921456 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 125 (N125T)
Ref Sequence ENSEMBL: ENSMUSP00000130317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170301]
Predicted Effect unknown
Transcript: ENSMUST00000168329
AA Change: N157T
SMART Domains Protein: ENSMUSP00000130833
Gene: ENSMUSG00000067848
AA Change: N157T

DomainStartEndE-ValueType
Pfam:Takusan 39 125 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170301
AA Change: N125T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130317
Gene: ENSMUSG00000067848
AA Change: N125T

DomainStartEndE-ValueType
Pfam:Takusan 6 92 1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200042
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnah5 T C 15: 28,307,364 I1746T probably benign Het
Eml3 T C 19: 8,936,766 probably benign Het
Eml6 C A 11: 29,838,613 E491* probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hs3st2 C T 7: 121,500,984 P351L probably damaging Het
Igf2r A T 17: 12,714,911 Y819N probably damaging Het
Kifc3 C A 8: 95,137,957 A42S possibly damaging Het
Mrps17 A G 5: 129,716,801 T20A probably damaging Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Olfr449 T C 6: 42,838,289 M136T possibly damaging Het
Olfr872 T G 9: 20,260,290 M150R probably damaging Het
Pappa2 A G 1: 158,783,941 L1484P probably damaging Het
Polr3c A T 3: 96,716,665 probably null Het
Ros1 C A 10: 52,077,911 E1877D probably damaging Het
Slc5a4b T C 10: 76,060,426 N565S probably damaging Het
Slf2 T C 19: 44,949,141 probably null Het
Suclg2 A T 6: 95,588,934 probably benign Het
Sult2a8 T C 7: 14,425,457 E79G probably damaging Het
Triobp A G 15: 78,967,364 T573A possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfand5 C T 19: 21,279,758 probably benign Het
Zfhx4 C A 3: 5,412,709 H3461Q probably damaging Het
Other mutations in 4933402N22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:4933402N22Rik APN 5 11921410 missense possibly damaging 0.85
R6029:4933402N22Rik UTSW 5 11920713 missense probably damaging 0.99
R6575:4933402N22Rik UTSW 5 11920645 nonsense probably null
R7238:4933402N22Rik UTSW 5 11920745 missense
Posted On2014-05-07