Incidental Mutation 'R6471:Rbfa'
ID 516714
Institutional Source Beutler Lab
Gene Symbol Rbfa
Ensembl Gene ENSMUSG00000024570
Gene Name ribosome binding factor A
Synonyms 1110032A13Rik
MMRRC Submission 044604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6471 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 80235480-80243873 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 80243673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 31 (S31*)
Ref Sequence ENSEMBL: ENSMUSP00000025462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025462]
AlphaFold Q6P3B9
Predicted Effect probably null
Transcript: ENSMUST00000025462
AA Change: S31*
SMART Domains Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: S31*

DomainStartEndE-ValueType
Pfam:RBFA 94 199 3.6e-15 PFAM
low complexity region 304 332 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.6%
Validation Efficiency 97% (29/30)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Birc2 A G 9: 7,857,421 (GRCm39) S351P probably benign Het
Car9 T C 4: 43,511,938 (GRCm39) V319A probably damaging Het
Ccdc86 A G 19: 10,926,243 (GRCm39) S119P unknown Het
Ciao2a T A 9: 66,034,139 (GRCm39) V4E possibly damaging Het
Cideb T C 14: 55,995,409 (GRCm39) R26G probably benign Het
Clip1 A G 5: 123,778,612 (GRCm39) V437A probably damaging Het
Cobll1 A G 2: 64,938,228 (GRCm39) S352P probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Exoc3l A G 8: 106,017,166 (GRCm39) V607A probably damaging Het
Fam227b A T 2: 125,962,985 (GRCm39) V177D probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gdap1 T A 1: 17,230,249 (GRCm39) N227K possibly damaging Het
Glod4 A T 11: 76,124,744 (GRCm39) F185L probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lrrc37 T A 11: 103,510,448 (GRCm39) probably benign Het
Map3k19 C T 1: 127,744,991 (GRCm39) V1488M probably damaging Het
Pak5 A T 2: 135,958,110 (GRCm39) M326K probably benign Het
Peak1 A G 9: 56,165,543 (GRCm39) L795P probably damaging Het
Plcg1 A G 2: 160,595,630 (GRCm39) D526G probably benign Het
Rapgef6 A G 11: 54,582,563 (GRCm39) I1492V probably damaging Het
Rnft1 T C 11: 86,382,508 (GRCm39) Y244H possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Slc6a3 G A 13: 73,693,003 (GRCm39) G208R probably benign Het
Tex15 G T 8: 34,071,762 (GRCm39) Q2436H probably damaging Het
Ttbk1 A G 17: 46,778,203 (GRCm39) L613P probably benign Het
Tuba1b T C 15: 98,830,328 (GRCm39) K164R probably benign Het
Usp9y A G Y: 1,384,511 (GRCm39) L669P probably damaging Homo
Vmn1r169 A G 7: 23,276,970 (GRCm39) T121A probably benign Het
Vmn2r51 A C 7: 9,836,510 (GRCm39) D90E possibly damaging Het
Zfp318 A G 17: 46,710,431 (GRCm39) H718R probably benign Het
Zfp93 T C 7: 23,972,754 (GRCm39) Y33H probably damaging Het
Other mutations in Rbfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Rbfa APN 18 80,236,080 (GRCm39) missense probably benign 0.00
IGL01555:Rbfa APN 18 80,241,015 (GRCm39) missense possibly damaging 0.47
IGL02838:Rbfa APN 18 80,236,050 (GRCm39) missense probably benign 0.00
IGL03214:Rbfa APN 18 80,240,506 (GRCm39) missense probably benign 0.02
R4584:Rbfa UTSW 18 80,243,721 (GRCm39) missense probably benign 0.05
R5293:Rbfa UTSW 18 80,235,981 (GRCm39) missense probably benign 0.01
R6384:Rbfa UTSW 18 80,235,996 (GRCm39) missense probably damaging 1.00
R7328:Rbfa UTSW 18 80,236,454 (GRCm39) missense probably benign 0.00
R9045:Rbfa UTSW 18 80,236,026 (GRCm39) missense probably damaging 0.99
Z1177:Rbfa UTSW 18 80,235,738 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAACAACCTGTCCCCATGGTC -3'
(R):5'- ACAGCAGTCATAACTCCGCG -3'

Sequencing Primer
(F):5'- ATGGTCTCGCCCCAACC -3'
(R):5'- ATAACTCCGCGCCGCAG -3'
Posted On 2018-05-21