Incidental Mutation 'R1247:4930527J03Rik'
ID 152164
Institutional Source Beutler Lab
Gene Symbol 4930527J03Rik
Ensembl Gene ENSMUSG00000070489
Gene Name RIKEN cDNA 4930527J03 gene
Synonyms
MMRRC Submission 039314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R1247 (G1)
Quality Score 196
Status Not validated
Chromosome 1
Chromosomal Location 178103613-178104206 bp(-) (GRCm39)
Type of Mutation exon
DNA Base Change (assembly) ACCC to ACC at 178276503 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192920
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brca2 C A 5: 150,464,739 (GRCm39) A1501D probably damaging Het
Ctbp2 G C 7: 132,596,918 (GRCm39) R722G probably benign Het
Cyp3a44 A G 5: 145,728,477 (GRCm39) F249S probably damaging Het
Huwe1 G C X: 150,684,566 (GRCm39) S2199T probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Samd4 AGG AG 14: 47,301,785 (GRCm39) probably benign Het
Samd4 G GAAA 14: 47,325,215 (GRCm39) probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sox15 T C 11: 69,547,320 (GRCm39) F190S probably benign Het
Syne2 G A 12: 76,014,264 (GRCm39) A3153T probably benign Het
Tbr1 C T 2: 61,641,962 (GRCm39) P409L possibly damaging Het
Other mutations in 4930527J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0294:4930527J03Rik UTSW 1 178,276,503 (GRCm38) exon noncoding transcript
R0323:4930527J03Rik UTSW 1 178,276,503 (GRCm38) exon noncoding transcript
R0392:4930527J03Rik UTSW 1 178,276,503 (GRCm38) exon noncoding transcript
R1013:4930527J03Rik UTSW 1 178,276,503 (GRCm38) exon noncoding transcript
R4804:4930527J03Rik UTSW 1 178,103,675 (GRCm39) exon noncoding transcript
Predicted Primers PCR Primer
(F):5'- CCACCTGCTCAACAAAGCTGATTTC -3'
(R):5'- AGTGCTTCCTCCAGAACTAGGCTG -3'

Sequencing Primer
(F):5'- GAGAACTTGCCCTTCCTccg -3'
(R):5'- TCCAGAACTAGGCTGCTATTG -3'
Posted On 2014-01-29