Incidental Mutation 'IGL03037:Rbfox1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbfox1
Ensembl Gene ENSMUSG00000008658
Gene NameRNA binding protein, fox-1 homolog (C. elegans) 1
SynonymsFOX1, A2bp, A2bp1, HRNBP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03037
Quality Score
Chromosomal Location5885355-7411526 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 7292283 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]
Predicted Effect probably benign
Transcript: ENSMUST00000056416
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658

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 benign
Transcript: ENSMUST00000115841
SMART Domains Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658

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 benign
Transcript: ENSMUST00000229741
Predicted Effect probably benign
Transcript: ENSMUST00000230658
Predicted Effect probably benign
Transcript: ENSMUST00000231088
Predicted Effect probably benign
Transcript: ENSMUST00000231194
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C A 3: 36,969,207 S2227R probably benign Het
4932438A13Rik T C 3: 36,969,208 S2229P probably damaging Het
Actl11 T C 9: 107,930,095 L539P probably damaging Het
Adam23 A T 1: 63,571,017 Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 E74G probably benign Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cadm4 T A 7: 24,500,795 L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 L1274F probably damaging Het
Car10 A G 11: 93,100,218 probably benign Het
Catsperd A T 17: 56,641,583 D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 Y285C probably damaging Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cln8 A T 8: 14,894,679 probably benign Het
Cnksr1 T C 4: 134,235,106 probably null Het
Ddx5 T C 11: 106,782,104 N532D possibly damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Dock8 A G 19: 25,086,181 E249G probably benign Het
Espnl T C 1: 91,341,921 V393A probably benign Het
Fam160a2 A T 7: 105,379,086 H885Q probably benign Het
Frrs1 T C 3: 116,902,467 probably benign Het
Fstl4 C A 11: 53,168,223 A503D possibly damaging Het
Gda T A 19: 21,434,309 I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 H24Y probably damaging Het
Ift140 T C 17: 25,092,394 S1188P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mmp16 C T 4: 17,996,222 P104S probably damaging Het
Mpst C A 15: 78,410,598 R177S probably benign Het
Nek1 A T 8: 61,034,052 T279S probably benign Het
Olfr1201 A G 2: 88,794,955 Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 T246I probably benign Het
Olfr54 A T 11: 51,027,290 Y96F probably damaging Het
Olfr830 T A 9: 18,875,372 I12N probably damaging Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pik3r4 A G 9: 105,650,813 D455G probably damaging Het
Piwil4 T C 9: 14,705,012 I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 I155T probably damaging Het
Prmt8 T C 6: 127,703,977 Y243C possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Scaf8 A G 17: 3,190,221 K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 probably benign Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Smarca4 T C 9: 21,632,935 probably benign Het
Sos1 T C 17: 80,420,329 D775G probably damaging Het
Spag17 G A 3: 100,072,170 probably null Het
Spata31d1d T A 13: 59,726,133 E1196V possibly damaging Het
Sqle T A 15: 59,321,397 Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tdgf1 C A 9: 110,943,220 W36L probably benign Het
Tenm3 A G 8: 48,298,878 F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 probably benign Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Uaca A G 9: 60,840,865 D37G probably damaging Het
Ube3a T C 7: 59,247,223 probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Ugp2 T A 11: 21,332,540 K151* probably null Het
Wasf1 A G 10: 40,930,658 K99R probably benign Het
Wnt4 C T 4: 137,289,161 T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 D17E probably damaging Het
Other mutations in Rbfox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Rbfox1 APN 16 7369834 missense probably benign 0.02
IGL01070:Rbfox1 APN 16 7306443 missense possibly damaging 0.78
IGL02633:Rbfox1 APN 16 7292214 missense probably damaging 0.99
R0006:Rbfox1 UTSW 16 7330420 missense probably benign 0.21
R0647:Rbfox1 UTSW 16 7224384 missense probably damaging 1.00
R1439:Rbfox1 UTSW 16 7330433 missense possibly damaging 0.51
R1656:Rbfox1 UTSW 16 7306469 splice site probably benign
R1677:Rbfox1 UTSW 16 7292227 missense possibly damaging 0.92
R2155:Rbfox1 UTSW 16 7294082 missense possibly damaging 0.91
R3236:Rbfox1 UTSW 16 7408028 missense possibly damaging 0.94
R4952:Rbfox1 UTSW 16 7277088 missense probably benign 0.00
R4971:Rbfox1 UTSW 16 7294088 missense probably damaging 1.00
R5115:Rbfox1 UTSW 16 7409772 missense probably damaging 1.00
R5784:Rbfox1 UTSW 16 7224339 missense probably damaging 0.96
R6380:Rbfox1 UTSW 16 7224350 nonsense probably null
R7102:Rbfox1 UTSW 16 7369834 missense probably benign 0.02
R7104:Rbfox1 UTSW 16 7353003 missense possibly damaging 0.90
R7218:Rbfox1 UTSW 16 7294083 missense probably damaging 1.00
R7348:Rbfox1 UTSW 16 7408024 nonsense probably null
R7383:Rbfox1 UTSW 16 7070035 missense probably benign 0.17
R7903:Rbfox1 UTSW 16 7224511 missense probably benign 0.20
R8161:Rbfox1 UTSW 16 7277028 missense
Posted On2016-08-02