Incidental Mutation 'IGL02273:4930451I11Rik'
ID287245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930451I11Rik
Ensembl Gene ENSMUSG00000045989
Gene NameRIKEN cDNA 4930451I11 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02273
Quality Score
Status
Chromosome7
Chromosomal Location126830468-126831639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126830759 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000049614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061695] [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]
Predicted Effect probably benign
Transcript: ENSMUST00000061695
AA Change: T89A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049614
Gene: ENSMUSG00000045989
AA Change: T89A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079423
SMART Domains Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
TLC 34 261 1.2e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098032
SMART Domains Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
TLC 34 261 8.37e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205320
Predicted Effect probably benign
Transcript: ENSMUST00000205324
Predicted Effect probably benign
Transcript: ENSMUST00000205722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205907
Predicted Effect probably benign
Transcript: ENSMUST00000207020
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Ldhd T C 8: 111,627,290 E426G probably benign Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging Het
Other mutations in 4930451I11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2848:4930451I11Rik UTSW 7 126830722 missense possibly damaging 0.96
R4257:4930451I11Rik UTSW 7 126831490 unclassified probably benign
R6207:4930451I11Rik UTSW 7 126830893 missense probably damaging 1.00
R6954:4930451I11Rik UTSW 7 126830637 intron probably null
Posted On2015-04-16