Incidental Mutation 'IGL02838:Rbfa'
ID361742
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: 0.088) question?
Stock #IGL02838
Quality Score
Status
Chromosome18
Chromosomal Location80192265-80200658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80192835 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 233 (H233R)
Ref Sequence ENSEMBL: ENSMUSP00000025462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025462]
Predicted Effect probably benign
Transcript: ENSMUST00000025462
AA Change: H233R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: H233R

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl4a T C 12: 40,036,304 E148G probably benign Het
AW551984 A T 9: 39,594,643 F419L probably damaging Het
Brpf3 G A 17: 28,835,784 R1100Q probably benign Het
Cacna1e A G 1: 154,445,648 C1222R probably damaging Het
Cacna2d3 T A 14: 29,300,828 probably null Het
Ccdc146 T A 5: 21,297,569 M775L probably benign Het
Ccdc60 A G 5: 116,134,110 S422P probably damaging Het
Cdh10 A T 15: 18,899,763 N59Y probably damaging Het
Cfap61 T A 2: 145,947,164 C29* probably null Het
Fgd5 T A 6: 91,987,674 M138K probably benign Het
Gpr107 G A 2: 31,214,317 G545S probably benign Het
Greb1l G A 18: 10,560,430 A1897T probably damaging Het
Hcls1 A G 16: 36,962,419 D439G probably damaging Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Itga5 C T 15: 103,351,609 A619T probably damaging Het
Maml3 A G 3: 51,690,090 F412L probably damaging Het
Mis18bp1 T C 12: 65,136,826 Y924C probably damaging Het
Mtss1 T C 15: 59,081,515 I5V probably benign Het
Ninl A T 2: 150,955,711 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Nts C T 10: 102,482,429 V138M probably damaging Het
Olfr1471 T A 19: 13,445,935 S308T probably benign Het
Olfr735 A G 14: 50,345,855 S165P probably damaging Het
Pard3 A G 8: 127,426,647 R900G probably damaging Het
Rundc3a T A 11: 102,397,695 probably benign Het
Setdb1 G T 3: 95,337,268 probably null Het
Synpo T A 18: 60,603,800 N358I probably damaging Het
Tnxb A T 17: 34,689,632 T1543S possibly damaging Het
Ugt1a8 T A 1: 88,088,677 Y271N probably benign Het
Vmn2r105 A C 17: 20,227,585 F326V probably damaging Het
Vps13c G A 9: 67,975,851 R3560H probably damaging Het
Vps13d C T 4: 145,075,025 R3510Q probably benign Het
Zcchc8 A T 5: 123,719,483 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
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 On2015-12-18