Incidental Mutation 'IGL02968:4930590J08Rik'
ID 365700
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 # IGL02968
Quality Score
Status
Chromosome 6
Chromosomal Location 91879790-91927706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91900454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 441 (D441V)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059318
AA Change: D441V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: D441V

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 probably damaging
Transcript: ENSMUST00000205686
AA Change: D441V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd1 T C X: 72,760,664 (GRCm39) S10P possibly damaging Het
Acad12 T C 5: 121,748,101 (GRCm39) S106G probably benign Het
C1s1 T C 6: 124,517,310 (GRCm39) T127A probably damaging Het
Cela3a A G 4: 137,131,132 (GRCm39) V202A probably damaging Het
Cenpu T C 8: 47,009,230 (GRCm39) probably null Het
Dusp9 T C X: 72,685,039 (GRCm39) S222P probably benign Het
Exoc5 A G 14: 49,270,726 (GRCm39) probably null Het
Foxp1 G T 6: 99,052,822 (GRCm39) A90D probably damaging Het
Krt12 G T 11: 99,308,843 (GRCm39) A398E probably damaging Het
Mtss1 G T 15: 58,828,364 (GRCm39) T183K possibly damaging Het
Napa T C 7: 15,847,266 (GRCm39) probably benign Het
Nlrp2 T C 7: 5,304,024 (GRCm39) E167G possibly damaging Het
Nos2 T C 11: 78,828,463 (GRCm39) Y148H probably damaging Het
Or2t43 T C 11: 58,458,021 (GRCm39) D50G possibly damaging Het
Or51aa5 C T 7: 103,167,466 (GRCm39) V42M probably damaging Het
Or52e18 A T 7: 104,609,451 (GRCm39) F163I possibly damaging Het
Pde7a G A 3: 19,297,285 (GRCm39) R122* probably null Het
Pkdrej A T 15: 85,700,382 (GRCm39) Y1851* probably null Het
Rbl1 C T 2: 157,019,194 (GRCm39) R517H probably damaging Het
Rnf10 A T 5: 115,383,947 (GRCm39) S661T probably benign Het
Ryr1 T C 7: 28,743,318 (GRCm39) D3886G probably damaging Het
Samd9l A G 6: 3,376,026 (GRCm39) Y412H probably damaging Het
Scarf1 T C 11: 75,414,915 (GRCm39) S530P probably damaging Het
Spam1 A G 6: 24,796,442 (GRCm39) E131G possibly damaging Het
Tmem185b C A 1: 119,454,851 (GRCm39) A204E possibly damaging Het
Tshz3 A G 7: 36,469,249 (GRCm39) K413E probably damaging Het
Vps13d A G 4: 144,849,068 (GRCm39) S2448P probably benign Het
Xkr5 T C 8: 18,983,641 (GRCm39) S634G probably benign Het
Zic1 G A 9: 91,244,543 (GRCm39) T372M probably damaging Het
Other mutations in 4930590J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:4930590J08Rik APN 6 91,896,099 (GRCm39) missense possibly damaging 0.74
IGL01478:4930590J08Rik APN 6 91,911,590 (GRCm39) missense probably benign 0.01
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
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 2015-12-18