Incidental Mutation 'R6272:F830016B08Rik'
ID 507426
Institutional Source Beutler Lab
Gene Symbol F830016B08Rik
Ensembl Gene ENSMUSG00000090942
Gene Name RIKEN cDNA F830016B08 gene
Synonyms Ifgga4
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6272 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 60426452-60436088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60433150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
Ref Sequence ENSEMBL: ENSMUSP00000131437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171297]
AlphaFold G3UWE2
Predicted Effect probably damaging
Transcript: ENSMUST00000171297
AA Change: S78P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131437
Gene: ENSMUSG00000090942
AA Change: S78P

DomainStartEndE-ValueType
Pfam:IIGP 35 405 1.1e-131 PFAM
Pfam:ABC_tran 68 214 7.3e-7 PFAM
Pfam:MMR_HSR1 71 197 2.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Adgrg3 A G 8: 95,762,889 (GRCm39) I189V noncoding transcript Het
Ampd1 A G 3: 102,992,699 (GRCm39) K147R possibly damaging Het
Apbb2 T C 5: 66,468,415 (GRCm39) T561A probably damaging Het
Arfgef3 A T 10: 18,522,711 (GRCm39) D438E probably benign Het
Atxn1 T A 13: 45,721,238 (GRCm39) Q219L possibly damaging Het
AW551984 A T 9: 39,509,333 (GRCm39) D269E probably benign Het
Cryab A G 9: 50,665,825 (GRCm39) K72R possibly damaging Het
Dbn1 G A 13: 55,622,917 (GRCm39) A522V probably benign Het
Dip2a A T 10: 76,122,241 (GRCm39) *158R probably null Het
Edrf1 C T 7: 133,239,537 (GRCm39) probably benign Het
Ern2 A T 7: 121,775,869 (GRCm39) D408E probably benign Het
Fah C A 7: 84,244,753 (GRCm39) G137C probably damaging Het
Foxd3 A G 4: 99,544,977 (GRCm39) D39G probably damaging Het
Gprin3 G A 6: 59,330,316 (GRCm39) Q664* probably null Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
H3c6 A T 13: 23,746,400 (GRCm39) V47E probably damaging Het
Hmgcll1 G A 9: 76,037,627 (GRCm39) G174R probably damaging Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kynu A T 2: 43,525,001 (GRCm39) N315Y probably benign Het
Map1lc3b G A 8: 122,323,429 (GRCm39) E100K probably benign Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mettl8 T C 2: 70,806,419 (GRCm39) probably null Het
Neto1 A T 18: 86,512,940 (GRCm39) N312Y probably damaging Het
Nhsl1 A G 10: 18,400,253 (GRCm39) D493G probably benign Het
Nup210l A G 3: 90,077,331 (GRCm39) E889G possibly damaging Het
Or13l2 A G 3: 97,318,207 (GRCm39) F97L probably benign Het
Or14c42-ps1 A G 7: 86,211,081 (GRCm39) Y47C unknown Het
Or2y13 C A 11: 49,414,953 (GRCm39) S134R possibly damaging Het
Or5ac25 A C 16: 59,181,948 (GRCm39) M211R possibly damaging Het
Or5w20 G A 2: 87,727,001 (GRCm39) V153I probably benign Het
Or6k2 C T 1: 173,986,741 (GRCm39) T134I probably benign Het
Or8g4 A T 9: 39,661,816 (GRCm39) M45L probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phc2 A G 4: 128,603,440 (GRCm39) Y190C probably damaging Het
Platr25 T C 13: 62,820,811 (GRCm39) T347A possibly damaging Het
Plec T C 15: 76,059,053 (GRCm39) E3655G probably damaging Het
Plekhg3 A T 12: 76,623,619 (GRCm39) Q954L probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prdm4 G A 10: 85,743,694 (GRCm39) T187I possibly damaging Het
Prg4 T C 1: 150,330,517 (GRCm39) probably benign Het
Prpf18 G A 2: 4,638,258 (GRCm39) R312W probably damaging Het
Rnf213 T A 11: 119,305,374 (GRCm39) V535D probably damaging Het
Rtcb A T 10: 85,791,638 (GRCm39) N39K probably damaging Het
Slc4a3 G A 1: 75,531,341 (GRCm39) probably null Het
Szt2 A C 4: 118,231,487 (GRCm39) probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tfap2e A T 4: 126,615,657 (GRCm39) V259D probably damaging Het
Trav19 A G 14: 54,083,255 (GRCm39) D110G probably damaging Het
Ttc17 A C 2: 94,189,100 (GRCm39) C749W probably damaging Het
Ttc8 A G 12: 98,948,753 (GRCm39) K490E possibly damaging Het
Ube4b A G 4: 149,471,590 (GRCm39) S99P probably damaging Het
Ubqln3 C T 7: 103,791,385 (GRCm39) R235H probably damaging Het
Vmn2r61 A T 7: 41,949,242 (GRCm39) D554V probably damaging Het
Vmn2r70 A T 7: 85,208,194 (GRCm39) V761E probably damaging Het
Vmn2r97 T C 17: 19,167,861 (GRCm39) I705T possibly damaging Het
Wwox G A 8: 115,215,692 (GRCm39) C155Y probably damaging Het
Zfp451 T C 1: 33,842,325 (GRCm39) probably benign Het
Zfp582 C T 7: 6,356,844 (GRCm39) P219L probably damaging Het
Other mutations in F830016B08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:F830016B08Rik APN 18 60,433,340 (GRCm39) missense probably damaging 1.00
IGL02642:F830016B08Rik APN 18 60,433,058 (GRCm39) missense probably benign 0.00
FR4342:F830016B08Rik UTSW 18 60,433,013 (GRCm39) small insertion probably benign
R0172:F830016B08Rik UTSW 18 60,433,036 (GRCm39) missense possibly damaging 0.64
R0375:F830016B08Rik UTSW 18 60,433,265 (GRCm39) missense probably damaging 1.00
R1517:F830016B08Rik UTSW 18 60,433,970 (GRCm39) nonsense probably null
R1791:F830016B08Rik UTSW 18 60,433,589 (GRCm39) missense probably benign 0.01
R2413:F830016B08Rik UTSW 18 60,433,365 (GRCm39) nonsense probably null
R2696:F830016B08Rik UTSW 18 60,433,808 (GRCm39) missense possibly damaging 0.75
R3607:F830016B08Rik UTSW 18 60,433,780 (GRCm39) nonsense probably null
R4612:F830016B08Rik UTSW 18 60,434,087 (GRCm39) missense probably benign 0.42
R4621:F830016B08Rik UTSW 18 60,433,939 (GRCm39) missense probably benign 0.01
R4752:F830016B08Rik UTSW 18 60,434,153 (GRCm39) missense probably benign 0.00
R5755:F830016B08Rik UTSW 18 60,433,878 (GRCm39) missense probably damaging 1.00
R5909:F830016B08Rik UTSW 18 60,433,091 (GRCm39) missense probably damaging 1.00
R6183:F830016B08Rik UTSW 18 60,432,949 (GRCm39) missense probably benign 0.00
R7076:F830016B08Rik UTSW 18 60,433,543 (GRCm39) missense probably damaging 1.00
R8130:F830016B08Rik UTSW 18 60,433,052 (GRCm39) missense probably benign 0.00
R8171:F830016B08Rik UTSW 18 60,433,150 (GRCm39) missense possibly damaging 0.94
R8289:F830016B08Rik UTSW 18 60,433,360 (GRCm39) missense probably benign 0.45
R9034:F830016B08Rik UTSW 18 60,433,141 (GRCm39) missense probably damaging 0.96
R9600:F830016B08Rik UTSW 18 60,433,237 (GRCm39) missense probably damaging 0.99
R9614:F830016B08Rik UTSW 18 60,433,379 (GRCm39) missense probably damaging 1.00
R9633:F830016B08Rik UTSW 18 60,432,965 (GRCm39) missense probably damaging 0.99
R9638:F830016B08Rik UTSW 18 60,432,956 (GRCm39) missense probably benign 0.00
R9684:F830016B08Rik UTSW 18 60,433,043 (GRCm39) missense probably damaging 0.97
R9729:F830016B08Rik UTSW 18 60,433,558 (GRCm39) missense possibly damaging 0.88
RF044:F830016B08Rik UTSW 18 60,433,010 (GRCm39) small insertion probably benign
RF054:F830016B08Rik UTSW 18 60,433,010 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- AGCTCCTCTCTGACACATCTAAG -3'
(R):5'- GTGGGAATTTCTGAGTTCCAATACC -3'

Sequencing Primer
(F):5'- GACAATGAAGATTTGGTATCCAGC -3'
(R):5'- TTCTGAGTTCCAATACCAGGCAAGTC -3'
Posted On 2018-03-15