Incidental Mutation 'R7345:B430305J03Rik'
ID570126
Institutional Source Beutler Lab
Gene Symbol B430305J03Rik
Ensembl Gene ENSMUSG00000053706
Gene NameRIKEN cDNA B430305J03 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.437) question?
Stock #R7345 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location61362250-61365951 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61364118 bp
ZygosityHeterozygous
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]
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: 4,955,910 M174T possibly damaging Het
Arhgap23 G A 11: 97,466,478 R934Q possibly damaging Het
Atad5 T C 11: 80,096,006 S640P probably damaging Het
B3galnt2 C T 13: 13,980,480 probably null Het
C87499 T C 4: 88,628,179 K309E possibly damaging Het
Cd163 A T 6: 124,318,938 N747I possibly damaging Het
Cep126 A G 9: 8,099,816 S906P probably damaging Het
Cyp4f39 G A 17: 32,486,779 G318R probably damaging Het
D630003M21Rik C T 2: 158,217,209 G257D probably damaging Het
Dcaf10 T C 4: 45,342,583 L139P probably damaging Het
Dcc A G 18: 71,378,824 V840A probably benign Het
Dnhd1 A T 7: 105,703,967 I2776L probably benign Het
Fam166b T C 4: 43,428,022 D145G possibly damaging Het
Fbxo24 G T 5: 137,621,261 F234L probably damaging Het
Gm21190 T C 5: 15,527,904 probably null Het
Grhl3 C T 4: 135,546,246 R565Q probably damaging Het
Gtf3c1 A T 7: 125,645,670 Y1731N probably damaging Het
Il1a C A 2: 129,304,773 R133S probably benign Het
Ipo4 C T 14: 55,635,531 R23Q probably benign Het
Klc3 G A 7: 19,394,889 T481M probably benign Het
Map2k6 A T 11: 110,492,908 I127F Het
Mapk8 A T 14: 33,408,111 N63K probably damaging Het
Med13l T C 5: 118,742,760 W1306R probably damaging Het
Megf6 C A 4: 154,267,315 Q1162K probably benign Het
Myo5b A G 18: 74,708,024 E992G possibly damaging Het
Ndst4 C T 3: 125,714,659 T291M probably benign Het
Nek10 T A 14: 14,955,503 F838L probably benign Het
Nrm A G 17: 35,864,584 H194R probably damaging Het
Nup188 T C 2: 30,340,601 S1384P probably benign Het
Olfml2a C A 2: 38,960,127 D618E probably damaging Het
Olfr466 A C 13: 65,152,743 N173T possibly damaging Het
Olfr506 C T 7: 108,613,063 T252I probably benign Het
Olfr937 A G 9: 39,060,579 L29P probably damaging Het
Olfr938 G A 9: 39,078,334 S137F probably damaging Het
P2ry1 T C 3: 61,003,674 F78S possibly damaging Het
Pcdhb18 T C 18: 37,491,923 F769L probably benign Het
Poc5 A G 13: 96,396,796 E144G probably damaging Het
Pole T A 5: 110,303,903 N870K possibly damaging Het
Polr2b T C 5: 77,349,119 F1159L possibly damaging Het
Rubcnl A G 14: 75,042,353 Y392C probably benign Het
Sec31a T C 5: 100,385,270 T539A probably damaging Het
Serpinh1 A C 7: 99,346,356 S340A probably damaging Het
Slc1a5 T A 7: 16,796,160 probably null Het
Soat2 A G 15: 102,162,578 D469G probably benign Het
Speg T C 1: 75,384,835 L70P probably damaging Het
Spred2 T C 11: 19,924,958 probably null Het
Stac2 A C 11: 98,042,613 S168A probably damaging Het
Stx1a T A 5: 135,037,188 D31E probably benign Het
Timeless C T 10: 128,249,754 T885M probably damaging Het
Tmem94 G T 11: 115,786,256 R118L possibly damaging Het
Tsen34 T C 7: 3,695,615 Y253H probably damaging Het
Unc13b T C 4: 43,173,966 V1598A unknown Het
Zfat A T 15: 68,105,043 Y1086N probably damaging Het
Zfp551 G A 7: 12,416,595 H296Y probably benign Het
Other mutations in B430305J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:B430305J03Rik APN 3 61364141 utr 5 prime probably benign
R0400:B430305J03Rik UTSW 3 61364135 utr 5 prime probably benign
R0704:B430305J03Rik UTSW 3 61363993 nonsense probably null
R1133:B430305J03Rik UTSW 3 61364009 nonsense probably null
R1727:B430305J03Rik UTSW 3 61363878 utr 5 prime probably benign
R1735:B430305J03Rik UTSW 3 61363940 utr 5 prime probably benign
R4065:B430305J03Rik UTSW 3 61364225 utr 5 prime probably benign
R4978:B430305J03Rik UTSW 3 61364019 start gained probably benign
R7073:B430305J03Rik UTSW 3 61364260 missense unknown
R7242:B430305J03Rik UTSW 3 61363835 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 On2019-09-13