Incidental Mutation 'R4662:4930590J08Rik'
ID 352927
Institutional Source Beutler Lab
Gene Symbol 4930590J08Rik
Ensembl Gene ENSMUSG00000034063
Gene Name RIKEN cDNA 4930590J08 gene
Synonyms LOC381798
MMRRC Submission 042011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4662 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91879790-91927706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91891939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 67 (Q67L)
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: Q67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: Q67L

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 benign
Transcript: ENSMUST00000205686
AA Change: Q67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,080,116 (GRCm39) Y36F probably benign Het
Adrb1 A G 19: 56,711,206 (GRCm39) T135A probably damaging Het
Ark2n T A 18: 77,762,186 (GRCm39) Q42L probably benign Het
Asxl2 G T 12: 3,477,193 (GRCm39) W13L probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Brsk1 T C 7: 4,710,298 (GRCm39) S436P possibly damaging Het
Calb2 A G 8: 110,894,709 (GRCm39) F21L probably benign Het
Camk2a T C 18: 61,074,411 (GRCm39) Y39H probably damaging Het
Cavin2 T C 1: 51,340,510 (GRCm39) S396P probably benign Het
Cfdp1 A G 8: 112,557,577 (GRCm39) F188S probably benign Het
Chek2 T A 5: 111,014,908 (GRCm39) V459D probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Cobl A G 11: 12,203,672 (GRCm39) V1003A probably benign Het
Ctsll3 A G 13: 60,947,416 (GRCm39) F257L possibly damaging Het
Dnajc13 A C 9: 104,084,957 (GRCm39) F819V probably damaging Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Dynlt1b A G 17: 6,699,279 (GRCm39) T10A probably benign Het
Eml6 A T 11: 29,727,390 (GRCm39) V1244E probably damaging Het
Ethe1 G A 7: 24,293,405 (GRCm39) S17N probably benign Het
Foxi1 T C 11: 34,157,578 (GRCm39) D149G probably damaging Het
Fzd9 T C 5: 135,278,475 (GRCm39) E470G probably damaging Het
Ggnbp2 A G 11: 84,753,072 (GRCm39) F56L probably damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hyal1 G A 9: 107,456,420 (GRCm39) R369H probably damaging Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kcna2 T A 3: 107,012,733 (GRCm39) I438N probably benign Het
Lrp1 A T 10: 127,388,054 (GRCm39) C3331* probably null Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Mroh9 C T 1: 162,883,162 (GRCm39) C439Y probably damaging Het
N4bp2l2 T C 5: 150,574,160 (GRCm39) D85G probably damaging Het
Nr1h2 A G 7: 44,199,855 (GRCm39) Y355H probably damaging Het
Nr5a2 T C 1: 136,868,167 (GRCm39) I322V probably benign Het
Nup153 A C 13: 46,840,750 (GRCm39) L273V possibly damaging Het
Obscn A G 11: 58,890,422 (GRCm39) L7370P unknown Het
Or1a1 T C 11: 74,086,542 (GRCm39) I71T probably damaging Het
Or4b1 T A 2: 89,980,222 (GRCm39) I43F probably damaging Het
Or5k15 A G 16: 58,710,287 (GRCm39) C99R probably damaging Het
Prkdc G A 16: 15,551,916 (GRCm39) D2041N probably damaging Het
Ptdss1 A G 13: 67,081,675 (GRCm39) D35G possibly damaging Het
Ptprs G T 17: 56,724,666 (GRCm39) T1118K probably damaging Het
Pygb C T 2: 150,657,036 (GRCm39) T329I probably benign Het
Rhoh T A 5: 66,050,157 (GRCm39) D142E probably benign Het
Saraf C A 8: 34,635,616 (GRCm39) A306E probably damaging Het
Scn1a T C 2: 66,181,332 (GRCm39) I64V probably benign Het
Sec16a A G 2: 26,320,582 (GRCm39) W1333R probably damaging Het
Shroom1 A T 11: 53,357,289 (GRCm39) T651S possibly damaging Het
Skint3 C A 4: 112,134,863 (GRCm39) Y345* probably null Het
Slc1a7 T A 4: 107,864,751 (GRCm39) N263K probably damaging Het
Sptbn2 C T 19: 4,789,267 (GRCm39) R1236C probably damaging Het
Tbx21 T C 11: 96,992,393 (GRCm39) N226S probably benign Het
Thada A G 17: 84,743,078 (GRCm39) L782P probably damaging Het
Tle1 T G 4: 72,055,335 (GRCm39) I446L possibly damaging Het
Trgv1 T A 13: 19,524,503 (GRCm39) L76I possibly damaging Het
Triobp A G 15: 78,877,469 (GRCm39) D1621G probably damaging Het
Trpm2 G C 10: 77,773,972 (GRCm39) A481G probably benign Het
Unc80 A T 1: 66,685,595 (GRCm39) M2240L probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Homo
Vangl1 T C 3: 102,074,238 (GRCm39) T290A probably benign Het
Vmn1r233 T A 17: 21,214,393 (GRCm39) I186F probably benign Het
Vmn2r102 G A 17: 19,901,424 (GRCm39) C517Y probably damaging Het
Vrk2 G A 11: 26,421,611 (GRCm39) T449M possibly damaging Het
Zfp518a A G 19: 40,900,304 (GRCm39) S78G probably benign Het
Zscan25 T C 5: 145,223,120 (GRCm39) S131P unknown Het
Zscan29 G A 2: 120,997,096 (GRCm39) T140I probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GTACCTGCAATACTCAGCCTC -3'
(R):5'- CAACAGGTGGATGGATTGTCG -3'

Sequencing Primer
(F):5'- CAGCCCCCAAACTGCTGG -3'
(R):5'- CATTGGGCATCAGCTTAGCAG -3'
Posted On 2015-10-08