Incidental Mutation 'IGL02633:Rbfox1'
ID 301395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbfox1
Ensembl Gene ENSMUSG00000008658
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 1
Synonyms A2bp1, A2bp, FOX1, HRNBP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02633
Quality Score
Status
Chromosome 16
Chromosomal Location 5703219-7229390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7110078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 165 (S165R)
Ref Sequence ENSEMBL: ENSMUSP00000111507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]
AlphaFold Q9JJ43
Predicted Effect probably damaging
Transcript: ENSMUST00000056416
AA Change: S165R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: S165R

DomainStartEndE-ValueType
low complexity region 107 118 N/A INTRINSIC
RRM 137 208 1.77e-24 SMART
Pfam:Fox-1_C 272 362 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115841
AA Change: S165R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: S165R

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
RRM 117 188 1.77e-24 SMART
Pfam:Fox-1_C 252 341 2.5e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000229741
AA Change: S185R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000230658
AA Change: S165R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000231088
AA Change: S145R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231194
AA Change: S165R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram T C 4: 56,806,131 (GRCm39) V181A possibly damaging Het
Aff4 T C 11: 53,300,198 (GRCm39) probably benign Het
Ap1g2 T C 14: 55,338,104 (GRCm39) probably null Het
Aspn A T 13: 49,705,363 (GRCm39) Y75F possibly damaging Het
Atm G A 9: 53,359,453 (GRCm39) T2783I probably damaging Het
Cacnb1 A T 11: 97,913,199 (GRCm39) I18N probably damaging Het
Casr T C 16: 36,336,017 (GRCm39) I97M probably damaging Het
Cnga2 T A X: 71,048,655 (GRCm39) probably benign Het
Coasy T A 11: 100,976,147 (GRCm39) L425Q probably damaging Het
Cps1 A G 1: 67,162,396 (GRCm39) T25A probably benign Het
Dnah1 T C 14: 31,006,772 (GRCm39) Y2181C probably benign Het
Efna3 A C 3: 89,222,749 (GRCm39) S230A probably damaging Het
Eng A G 2: 32,563,286 (GRCm39) I281V probably damaging Het
Erlec1 T A 11: 30,898,430 (GRCm39) R14* probably null Het
Gbp9 C T 5: 105,231,431 (GRCm39) probably benign Het
Gzmg T C 14: 56,394,160 (GRCm39) M245V probably damaging Het
Kdm5a A G 6: 120,341,680 (GRCm39) I36V probably damaging Het
Krt87 A G 15: 101,389,095 (GRCm39) V79A probably damaging Het
Limd1 A T 9: 123,308,987 (GRCm39) probably benign Het
Lmo4 T C 3: 143,899,683 (GRCm39) S155G probably benign Het
Mrpl44 G A 1: 79,753,862 (GRCm39) V5I probably benign Het
Mrpl49 T C 19: 6,104,931 (GRCm39) T146A possibly damaging Het
Mrpl58 T C 11: 115,301,457 (GRCm39) probably benign Het
Nab1 C T 1: 52,529,292 (GRCm39) V202M probably damaging Het
Nav3 T A 10: 109,527,997 (GRCm39) M2229L probably benign Het
Notch2 C T 3: 98,024,013 (GRCm39) probably benign Het
Nub1 A G 5: 24,897,931 (GRCm39) I106V probably benign Het
Prom1 A T 5: 44,172,117 (GRCm39) S595T probably benign Het
Sipa1l2 G A 8: 126,174,507 (GRCm39) T1257I probably damaging Het
Smarcc2 T C 10: 128,305,556 (GRCm39) S327P probably damaging Het
Tdpoz1 T C 3: 93,578,056 (GRCm39) M243V probably benign Het
Ttn G T 2: 76,549,289 (GRCm39) T23469K probably damaging Het
Ube2u T C 4: 100,339,971 (GRCm39) probably benign Het
Umodl1 T C 17: 31,208,462 (GRCm39) Y836H probably damaging Het
Vmn2r45 A G 7: 8,488,728 (GRCm39) Y101H probably benign Het
Vps13a T A 19: 16,697,772 (GRCm39) Q781L possibly damaging Het
Vwce G A 19: 10,625,858 (GRCm39) V457M probably damaging Het
Other mutations in Rbfox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Rbfox1 APN 16 7,187,698 (GRCm39) missense probably benign 0.02
IGL01070:Rbfox1 APN 16 7,124,307 (GRCm39) missense possibly damaging 0.78
IGL03037:Rbfox1 APN 16 7,110,147 (GRCm39) splice site probably benign
R0006:Rbfox1 UTSW 16 7,148,284 (GRCm39) missense probably benign 0.21
R0647:Rbfox1 UTSW 16 7,042,248 (GRCm39) missense probably damaging 1.00
R1439:Rbfox1 UTSW 16 7,148,297 (GRCm39) missense possibly damaging 0.51
R1656:Rbfox1 UTSW 16 7,124,333 (GRCm39) splice site probably benign
R1677:Rbfox1 UTSW 16 7,110,091 (GRCm39) missense possibly damaging 0.92
R2155:Rbfox1 UTSW 16 7,111,946 (GRCm39) missense possibly damaging 0.91
R3236:Rbfox1 UTSW 16 7,225,892 (GRCm39) missense possibly damaging 0.94
R4952:Rbfox1 UTSW 16 7,094,952 (GRCm39) missense probably benign 0.00
R4971:Rbfox1 UTSW 16 7,111,952 (GRCm39) missense probably damaging 1.00
R5115:Rbfox1 UTSW 16 7,227,636 (GRCm39) missense probably damaging 1.00
R5784:Rbfox1 UTSW 16 7,042,203 (GRCm39) missense probably damaging 0.96
R6380:Rbfox1 UTSW 16 7,042,214 (GRCm39) nonsense probably null
R7102:Rbfox1 UTSW 16 7,187,698 (GRCm39) missense probably benign 0.02
R7104:Rbfox1 UTSW 16 7,170,867 (GRCm39) missense possibly damaging 0.90
R7218:Rbfox1 UTSW 16 7,111,947 (GRCm39) missense probably damaging 1.00
R7348:Rbfox1 UTSW 16 7,225,888 (GRCm39) nonsense probably null
R7383:Rbfox1 UTSW 16 6,887,899 (GRCm39) missense probably benign 0.17
R7903:Rbfox1 UTSW 16 7,042,375 (GRCm39) missense probably benign 0.20
R8161:Rbfox1 UTSW 16 7,094,892 (GRCm39) missense
R8350:Rbfox1 UTSW 16 7,094,954 (GRCm39) missense probably benign 0.17
R8487:Rbfox1 UTSW 16 7,042,319 (GRCm39) missense probably damaging 1.00
R8836:Rbfox1 UTSW 16 7,227,605 (GRCm39) missense probably benign 0.00
R9253:Rbfox1 UTSW 16 7,111,973 (GRCm39) missense probably benign 0.00
R9516:Rbfox1 UTSW 16 7,227,573 (GRCm39) missense probably benign 0.01
R9674:Rbfox1 UTSW 16 7,170,885 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16