Incidental Mutation 'IGL01478:4930590J08Rik'
ID 88519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930590J08Rik
Ensembl Gene ENSMUSG00000034063
Gene Name RIKEN cDNA 4930590J08 gene
Synonyms LOC381798
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01478
Quality Score
Status
Chromosome 6
Chromosomal Location 91879790-91927706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91911590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 613 (T613A)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059318
AA Change: T613A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: T613A

DomainStartEndE-ValueType
low complexity region 89 109 N/A INTRINSIC
Pfam:FAM194 357 561 4.1e-68 PFAM
low complexity region 626 637 N/A INTRINSIC
transmembrane domain 774 796 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205414
Predicted Effect probably benign
Transcript: ENSMUST00000205686
AA Change: T613A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh16 G T 8: 105,341,120 (GRCm39) probably benign Het
Epn2 A G 11: 61,413,912 (GRCm39) S419P probably benign Het
Eral1 A T 11: 77,966,558 (GRCm39) V234D probably damaging Het
Fhad1 T C 4: 141,678,949 (GRCm39) K576E possibly damaging Het
Frmd4b T A 6: 97,305,254 (GRCm39) D170V probably damaging Het
Gm4353 A G 7: 115,682,975 (GRCm39) V202A possibly damaging Het
Ighmbp2 A G 19: 3,324,531 (GRCm39) I245T probably benign Het
Igsf23 G A 7: 19,672,161 (GRCm39) probably benign Het
Krt1 A G 15: 101,754,721 (GRCm39) probably benign Het
Mapk8 A G 14: 33,105,857 (GRCm39) V371A probably benign Het
Mtrf1 T G 14: 79,640,360 (GRCm39) probably benign Het
Myzap A G 9: 71,422,349 (GRCm39) probably null Het
Nsrp1 C T 11: 76,941,478 (GRCm39) V73I probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or52e18 A G 7: 104,609,555 (GRCm39) I128T probably damaging Het
Or8k39 A T 2: 86,563,673 (GRCm39) Y94* probably null Het
Pex6 C T 17: 47,036,230 (GRCm39) R976C probably benign Het
Ranbp9 G A 13: 43,567,560 (GRCm39) T546I probably benign Het
Rfx5 T C 3: 94,865,751 (GRCm39) V350A possibly damaging Het
Rnf19b A G 4: 128,952,623 (GRCm39) E187G probably damaging Het
Sbf1 A G 15: 89,183,946 (GRCm39) V1217A probably damaging Het
Sfmbt1 T A 14: 30,533,478 (GRCm39) D618E probably damaging Het
Sipa1l1 A G 12: 82,493,672 (GRCm39) E1697G probably benign Het
Syk A G 13: 52,778,784 (GRCm39) Y290C probably benign Het
Trim69 T C 2: 122,008,924 (GRCm39) L328P probably damaging Het
Unc5c T A 3: 141,534,212 (GRCm39) I911N probably damaging Het
Wdr5 T C 2: 27,423,844 (GRCm39) V294A probably damaging Het
Other mutations in 4930590J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:4930590J08Rik APN 6 91,896,099 (GRCm39) missense possibly damaging 0.74
IGL01481:4930590J08Rik APN 6 91,910,079 (GRCm39) missense probably damaging 1.00
IGL01485:4930590J08Rik APN 6 91,927,003 (GRCm39) missense probably damaging 0.96
IGL01794:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL01795:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL02040:4930590J08Rik APN 6 91,895,091 (GRCm39) missense probably benign
IGL02171:4930590J08Rik APN 6 91,921,237 (GRCm39) missense probably benign 0.01
IGL02968:4930590J08Rik APN 6 91,900,454 (GRCm39) missense probably damaging 1.00
IGL03358:4930590J08Rik APN 6 91,905,716 (GRCm39) missense probably damaging 1.00
PIT4519001:4930590J08Rik UTSW 6 91,894,038 (GRCm39) missense probably damaging 1.00
R0531:4930590J08Rik UTSW 6 91,892,127 (GRCm39) missense probably benign
R0569:4930590J08Rik UTSW 6 91,919,559 (GRCm39) nonsense probably null
R1536:4930590J08Rik UTSW 6 91,894,016 (GRCm39) missense probably benign 0.20
R1730:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1758:4930590J08Rik UTSW 6 91,892,203 (GRCm39) missense possibly damaging 0.79
R1783:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1911:4930590J08Rik UTSW 6 91,927,050 (GRCm39) splice site probably benign
R1930:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R1936:4930590J08Rik UTSW 6 91,894,061 (GRCm39) missense possibly damaging 0.90
R2157:4930590J08Rik UTSW 6 91,919,468 (GRCm39) missense possibly damaging 0.48
R2157:4930590J08Rik UTSW 6 91,894,679 (GRCm39) splice site probably null
R4072:4930590J08Rik UTSW 6 91,922,342 (GRCm39) splice site probably null
R4662:4930590J08Rik UTSW 6 91,891,939 (GRCm39) missense probably benign
R4900:4930590J08Rik UTSW 6 91,895,091 (GRCm39) missense probably benign
R4936:4930590J08Rik UTSW 6 91,921,245 (GRCm39) missense probably damaging 1.00
R5394:4930590J08Rik UTSW 6 91,896,174 (GRCm39) missense probably benign 0.00
R5887:4930590J08Rik UTSW 6 91,892,124 (GRCm39) nonsense probably null
R5931:4930590J08Rik UTSW 6 91,896,096 (GRCm39) missense probably damaging 1.00
R6174:4930590J08Rik UTSW 6 91,919,517 (GRCm39) missense probably damaging 0.99
R6179:4930590J08Rik UTSW 6 91,919,311 (GRCm39) missense probably damaging 0.96
R6380:4930590J08Rik UTSW 6 91,900,118 (GRCm39) missense probably damaging 1.00
R6531:4930590J08Rik UTSW 6 91,926,980 (GRCm39) missense possibly damaging 0.88
R7570:4930590J08Rik UTSW 6 91,911,591 (GRCm39) missense probably benign 0.03
R7860:4930590J08Rik UTSW 6 91,905,707 (GRCm39) missense probably damaging 1.00
R7936:4930590J08Rik UTSW 6 91,900,445 (GRCm39) nonsense probably null
R7958:4930590J08Rik UTSW 6 91,911,464 (GRCm39) missense probably benign 0.02
R7968:4930590J08Rik UTSW 6 91,922,441 (GRCm39) missense
R8111:4930590J08Rik UTSW 6 91,894,691 (GRCm39) missense probably benign
R8953:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R9084:4930590J08Rik UTSW 6 91,892,016 (GRCm39) missense probably damaging 0.97
R9154:4930590J08Rik UTSW 6 91,926,926 (GRCm39) missense probably benign 0.09
R9319:4930590J08Rik UTSW 6 91,922,446 (GRCm39) missense probably damaging 0.97
Posted On 2013-11-18