Incidental Mutation 'R7345:B430305J03Rik'
ID 570126
Institutional Source Beutler Lab
Gene Symbol B430305J03Rik
Ensembl Gene ENSMUSG00000053706
Gene Name RIKEN cDNA B430305J03 gene
Synonyms
MMRRC Submission 045379-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R7345 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 61269671-61273372 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61271539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 69 (S69G)
Ref Sequence ENSEMBL: ENSMUSP00000070175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]
AlphaFold Q8BQQ8
Predicted Effect probably benign
Transcript: ENSMUST00000049064
SMART Domains Protein: ENSMUSP00000038841
Gene: ENSMUSG00000036894

DomainStartEndE-ValueType
RAS 1 167 3.08e-111 SMART
Predicted Effect unknown
Transcript: ENSMUST00000066298
AA Change: S69G
SMART Domains Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706
AA Change: S69G

DomainStartEndE-ValueType
low complexity region 95 103 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 A G 16: 4,773,774 (GRCm39) M174T possibly damaging Het
Arhgap23 G A 11: 97,357,304 (GRCm39) R934Q possibly damaging Het
Atad5 T C 11: 79,986,832 (GRCm39) S640P probably damaging Het
B3galnt2 C T 13: 14,155,065 (GRCm39) probably null Het
Cd163 A T 6: 124,295,897 (GRCm39) N747I possibly damaging Het
Cep126 A G 9: 8,099,817 (GRCm39) S906P probably damaging Het
Cimip2b T C 4: 43,428,022 (GRCm39) D145G possibly damaging Het
Cyp4f39 G A 17: 32,705,753 (GRCm39) G318R probably damaging Het
D630003M21Rik C T 2: 158,059,129 (GRCm39) G257D probably damaging Het
Dcaf10 T C 4: 45,342,583 (GRCm39) L139P probably damaging Het
Dcc A G 18: 71,511,895 (GRCm39) V840A probably benign Het
Dnhd1 A T 7: 105,353,174 (GRCm39) I2776L probably benign Het
Fbxo24 G T 5: 137,619,523 (GRCm39) F234L probably damaging Het
Gm21190 T C 5: 15,732,902 (GRCm39) probably null Het
Grhl3 C T 4: 135,273,557 (GRCm39) R565Q probably damaging Het
Gtf3c1 A T 7: 125,244,842 (GRCm39) Y1731N probably damaging Het
Il1a C A 2: 129,146,693 (GRCm39) R133S probably benign Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Klc3 G A 7: 19,128,814 (GRCm39) T481M probably benign Het
Map2k6 A T 11: 110,383,734 (GRCm39) I127F Het
Mapk8 A T 14: 33,130,068 (GRCm39) N63K probably damaging Het
Med13l T C 5: 118,880,825 (GRCm39) W1306R probably damaging Het
Megf6 C A 4: 154,351,772 (GRCm39) Q1162K probably benign Het
Myo5b A G 18: 74,841,095 (GRCm39) E992G possibly damaging Het
Ndst4 C T 3: 125,508,308 (GRCm39) T291M probably benign Het
Nek10 T A 14: 14,955,503 (GRCm38) F838L probably benign Het
Nrm A G 17: 36,175,476 (GRCm39) H194R probably damaging Het
Nup188 T C 2: 30,230,613 (GRCm39) S1384P probably benign Het
Olfml2a C A 2: 38,850,139 (GRCm39) D618E probably damaging Het
Or5p78 C T 7: 108,212,270 (GRCm39) T252I probably benign Het
Or8g23 A G 9: 38,971,875 (GRCm39) L29P probably damaging Het
Or8g24 G A 9: 38,989,630 (GRCm39) S137F probably damaging Het
Or9s18 A C 13: 65,300,557 (GRCm39) N173T possibly damaging Het
P2ry1 T C 3: 60,911,095 (GRCm39) F78S possibly damaging Het
Pcdhb18 T C 18: 37,624,976 (GRCm39) F769L probably benign Het
Poc5 A G 13: 96,533,304 (GRCm39) E144G probably damaging Het
Pole T A 5: 110,451,769 (GRCm39) N870K possibly damaging Het
Polr2b T C 5: 77,496,966 (GRCm39) F1159L possibly damaging Het
Pramel32 T C 4: 88,546,416 (GRCm39) K309E possibly damaging Het
Rubcnl A G 14: 75,279,793 (GRCm39) Y392C probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Serpinh1 A C 7: 98,995,563 (GRCm39) S340A probably damaging Het
Slc1a5 T A 7: 16,530,085 (GRCm39) probably null Het
Soat2 A G 15: 102,071,013 (GRCm39) D469G probably benign Het
Speg T C 1: 75,361,479 (GRCm39) L70P probably damaging Het
Spred2 T C 11: 19,874,958 (GRCm39) probably null Het
Stac2 A C 11: 97,933,439 (GRCm39) S168A probably damaging Het
Stx1a T A 5: 135,066,042 (GRCm39) D31E probably benign Het
Timeless C T 10: 128,085,623 (GRCm39) T885M probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tsen34 T C 7: 3,698,614 (GRCm39) Y253H probably damaging Het
Unc13b T C 4: 43,173,966 (GRCm39) V1598A unknown Het
Zfat A T 15: 67,976,892 (GRCm39) Y1086N probably damaging Het
Zfp551 G A 7: 12,150,522 (GRCm39) H296Y probably benign Het
Other mutations in B430305J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:B430305J03Rik APN 3 61,271,562 (GRCm39) utr 5 prime probably benign
R0400:B430305J03Rik UTSW 3 61,271,556 (GRCm39) utr 5 prime probably benign
R0704:B430305J03Rik UTSW 3 61,271,414 (GRCm39) nonsense probably null
R1133:B430305J03Rik UTSW 3 61,271,430 (GRCm39) nonsense probably null
R1727:B430305J03Rik UTSW 3 61,271,299 (GRCm39) utr 5 prime probably benign
R1735:B430305J03Rik UTSW 3 61,271,361 (GRCm39) utr 5 prime probably benign
R4065:B430305J03Rik UTSW 3 61,271,646 (GRCm39) utr 5 prime probably benign
R4978:B430305J03Rik UTSW 3 61,271,440 (GRCm39) start gained probably benign
R7073:B430305J03Rik UTSW 3 61,271,681 (GRCm39) missense unknown
R7242:B430305J03Rik UTSW 3 61,271,256 (GRCm39) missense unknown
R9624:B430305J03Rik UTSW 3 61,271,408 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAGGTAATTTGAGCTGGCG -3'
(R):5'- TCGGCTTGCGCTGTTAAAG -3'

Sequencing Primer
(F):5'- GTGCGAAACCTTCCTACTTGCAAG -3'
(R):5'- GTTAAAGGATAGACACTTGTCCCCG -3'
Posted On 2019-09-13