Incidental Mutation 'IGL03214:Rbfa'
ID413411
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: 0.169) question?
Stock #IGL03214
Quality Score
Status
Chromosome18
Chromosomal Location80192265-80200658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 80197291 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 152 (K152N)
Ref Sequence ENSEMBL: ENSMUSP00000025462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025462]
Predicted Effect probably benign
Transcript: ENSMUST00000025462
AA Change: K152N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: K152N

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,167,054 probably benign Het
Asb5 T C 8: 54,585,063 V207A probably benign Het
Atxn3 G T 12: 101,945,922 probably benign Het
Brwd1 T C 16: 96,037,900 D857G probably benign Het
Cacna1i A G 15: 80,355,716 N322S probably benign Het
Dcun1d1 A T 3: 35,919,071 W92R probably damaging Het
Dnah7a A C 1: 53,522,209 probably null Het
Enpep T C 3: 129,293,247 D581G probably benign Het
Fam135a G A 1: 24,053,276 L201F probably damaging Het
Gm14496 T G 2: 182,000,536 L667V probably damaging Het
Grk4 T A 5: 34,752,209 M539K probably benign Het
Itpr2 A G 6: 146,180,244 V2261A probably benign Het
Krtap5-2 A G 7: 142,175,014 S310P unknown Het
Mme A T 3: 63,329,690 Y232F possibly damaging Het
Mtmr4 T C 11: 87,597,693 Y58H probably damaging Het
Myh13 T C 11: 67,353,585 S983P possibly damaging Het
Nbas A G 12: 13,331,110 probably benign Het
Neb T A 2: 52,197,844 T5448S possibly damaging Het
Neb C T 2: 52,159,548 G6428R probably damaging Het
Olfr1156 T A 2: 87,950,071 Q54L probably benign Het
Olfr31 A T 14: 14,328,284 M58L probably damaging Het
Olfr472 T C 7: 107,902,966 M83T probably benign Het
Olfr598 G T 7: 103,328,666 S60I possibly damaging Het
Olfr699 T A 7: 106,790,345 I219L probably benign Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Phex A T X: 157,177,504 N681K probably damaging Het
Plekha8 C A 6: 54,635,770 A454E probably damaging Het
Satb2 C A 1: 56,845,580 S513I probably damaging Het
Slc4a2 G T 5: 24,434,881 R520L probably benign Het
Slfn14 T C 11: 83,279,000 H606R probably benign Het
Smc1b G A 15: 85,097,946 Q716* probably null Het
Syncrip C T 9: 88,464,643 probably benign Het
Vmn2r30 T A 7: 7,334,260 I126F probably benign Het
Vps13c C T 9: 67,897,195 A762V probably null Het
Wdr64 C A 1: 175,743,635 probably benign Het
Wisp3 T C 10: 39,153,167 N255S probably benign Het
Other mutations in Rbfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Rbfa APN 18 80192865 missense probably benign 0.00
IGL01555:Rbfa APN 18 80197800 missense possibly damaging 0.47
IGL02838:Rbfa APN 18 80192835 missense probably benign 0.00
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 On2016-08-02