Incidental Mutation 'IGL01405:Rbfa'
ID79781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbfa
Ensembl Gene ENSMUSG00000024570
Gene Nameribosome binding factor A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01405
Quality Score
Status
Chromosome18
Chromosomal Location80192265-80200658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80192865 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 223 (V223A)
Ref Sequence ENSEMBL: ENSMUSP00000025462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025462]
Predicted Effect probably benign
Transcript: ENSMUST00000025462
AA Change: V223A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: V223A

DomainStartEndE-ValueType
Pfam:RBFA 94 199 3.6e-15 PFAM
low complexity region 304 332 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 35,964,010 R82W probably damaging Het
Atxn7 T C 14: 14,100,105 V597A probably benign Het
Bsg T A 10: 79,711,514 M205K probably benign Het
Ccdc18 T C 5: 108,202,186 probably benign Het
Cdh1 T C 8: 106,649,001 V57A probably damaging Het
Ddost A G 4: 138,311,703 D378G probably damaging Het
Depdc5 A G 5: 32,937,689 E779G possibly damaging Het
Elp5 T C 11: 69,969,136 R250G probably damaging Het
Gnb1 A G 4: 155,543,188 H142R probably damaging Het
Ift172 G T 5: 31,261,852 Y1148* probably null Het
Kif5a T C 10: 127,245,990 N153S probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Man2a2 T A 7: 80,360,934 M770L probably benign Het
Msh2 T C 17: 87,678,235 L80P probably damaging Het
Naip5 A T 13: 100,221,945 S928T probably benign Het
Olfr855 T A 9: 19,585,205 S223T probably benign Het
Pla2g4d T C 2: 120,266,823 N765S probably benign Het
Plcb4 C T 2: 135,950,347 T330I probably damaging Het
Ppp3ca A G 3: 136,868,721 I127V probably benign Het
Rapgef5 C A 12: 117,721,380 T320K probably benign Het
Rfx7 A G 9: 72,610,344 M187V probably benign Het
Ric1 T C 19: 29,567,370 probably benign Het
Slc22a16 C T 10: 40,585,195 T331M probably benign Het
Slc34a1 T C 13: 55,412,128 S303P probably damaging Het
Slfn3 T C 11: 83,214,716 V513A possibly damaging Het
Tbce A T 13: 14,003,695 I370N probably damaging Het
Zfp358 G A 8: 3,495,663 D109N probably benign Het
Zfp523 T C 17: 28,204,506 S152P probably damaging Het
Zfp961 A G 8: 71,967,934 N78S possibly damaging Het
Other mutations in Rbfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Rbfa APN 18 80197800 missense possibly damaging 0.47
IGL02838:Rbfa APN 18 80192835 missense probably benign 0.00
IGL03214:Rbfa APN 18 80197291 missense probably benign 0.02
R4584:Rbfa UTSW 18 80200506 missense probably benign 0.05
R5293:Rbfa UTSW 18 80192766 missense probably benign 0.01
R6384:Rbfa UTSW 18 80192781 missense probably damaging 1.00
R6471:Rbfa UTSW 18 80200458 nonsense probably null
R7328:Rbfa UTSW 18 80193239 missense probably benign 0.00
Z1177:Rbfa UTSW 18 80192523 missense probably benign 0.00
Posted On2013-11-05