Incidental Mutation 'R1656:Rbfox1'
ID 189137
Institutional Source Beutler Lab
Gene Symbol Rbfox1
Ensembl Gene ENSMUSG00000008658
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 1
Synonyms A2bp1, A2bp, FOX1, HRNBP1
MMRRC Submission 039692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1656 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 5703219-7229390 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 7124333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]
AlphaFold Q9JJ43
Predicted Effect probably benign
Transcript: ENSMUST00000056416
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658

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

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 benign
Transcript: ENSMUST00000229741
Predicted Effect probably benign
Transcript: ENSMUST00000230658
Predicted Effect probably benign
Transcript: ENSMUST00000231088
Predicted Effect probably benign
Transcript: ENSMUST00000231194
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A T 14: 32,099,901 (GRCm39) I42N possibly damaging Het
Adarb2 T A 13: 8,253,287 (GRCm39) S11T unknown Het
Adgrg1 C T 8: 95,738,438 (GRCm39) Q644* probably null Het
Akr1c18 T G 13: 4,195,252 (GRCm39) I69L probably benign Het
Anxa9 C T 3: 95,207,884 (GRCm39) V219I probably benign Het
Aqp9 T C 9: 71,045,385 (GRCm39) T101A probably benign Het
Arhgef1 C T 7: 24,613,057 (GRCm39) R251W probably damaging Het
Arl13b T A 16: 62,627,007 (GRCm39) E231D possibly damaging Het
Atosa C T 9: 74,916,241 (GRCm39) A280V probably benign Het
Bcl2l11 C T 2: 128,000,176 (GRCm39) A173V probably benign Het
Ccni A T 5: 93,335,933 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,485 (GRCm39) E785G probably benign Het
Cdk4 A G 10: 126,900,849 (GRCm39) Y167C probably benign Het
Clip1 A C 5: 123,768,466 (GRCm39) V757G possibly damaging Het
Ctsc T C 7: 87,930,616 (GRCm39) V65A possibly damaging Het
Cuedc2 G A 19: 46,320,427 (GRCm39) S48L probably damaging Het
Cyp39a1 T A 17: 43,978,510 (GRCm39) M4K possibly damaging Het
Dgcr8 T C 16: 18,074,577 (GRCm39) S733G probably benign Het
Dnhd1 T C 7: 105,363,488 (GRCm39) S4017P probably damaging Het
Ehbp1 A G 11: 22,096,694 (GRCm39) I255T probably benign Het
Fam83e T C 7: 45,371,687 (GRCm39) V28A probably benign Het
Fanci A G 7: 79,054,936 (GRCm39) probably benign Het
Fat1 C T 8: 45,478,567 (GRCm39) Q2538* probably null Het
Fshr A G 17: 89,508,009 (GRCm39) F11S unknown Het
Gab1 G T 8: 81,515,388 (GRCm39) P310Q probably damaging Het
Galnt18 A G 7: 111,215,699 (GRCm39) probably benign Het
Gm28042 C A 2: 119,869,370 (GRCm39) P355Q probably damaging Het
H2-DMa A G 17: 34,357,116 (GRCm39) T205A possibly damaging Het
Hnf4g A T 3: 3,718,011 (GRCm39) D420V probably benign Het
Ift70b T C 2: 75,767,760 (GRCm39) K331R probably benign Het
Il1b A G 2: 129,207,989 (GRCm39) V164A probably damaging Het
Irf4 C A 13: 30,941,485 (GRCm39) H279Q probably benign Het
Loxhd1 A G 18: 77,409,364 (GRCm39) T203A possibly damaging Het
Lsamp C T 16: 41,775,682 (GRCm39) P178S probably damaging Het
Mcm6 T C 1: 128,277,155 (GRCm39) S223G possibly damaging Het
Misp G T 10: 79,661,777 (GRCm39) V65L possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Myef2 G T 2: 124,939,860 (GRCm39) probably null Het
Myo1e T A 9: 70,303,216 (GRCm39) I1079N probably damaging Het
Nisch G T 14: 30,899,228 (GRCm39) probably benign Het
Obox7 T C 7: 14,399,346 (GRCm39) S191P probably benign Het
Or11h7 T C 14: 50,891,465 (GRCm39) V257A probably benign Het
Or13p10 A G 4: 118,523,385 (GRCm39) I224V probably damaging Het
Or14c40 C T 7: 86,313,331 (GRCm39) L154F probably benign Het
Or1j11 G A 2: 36,311,658 (GRCm39) V83M probably benign Het
Or5w14 A T 2: 87,541,422 (GRCm39) V276D possibly damaging Het
Or7d9 A G 9: 20,197,873 (GRCm39) R301G probably damaging Het
Phf1 T C 17: 27,156,333 (GRCm39) S492P possibly damaging Het
Phyh A T 2: 4,943,164 (GRCm39) N337I probably damaging Het
Poteg A T 8: 27,985,060 (GRCm39) probably benign Het
Prag1 G T 8: 36,571,500 (GRCm39) K694N probably damaging Het
Proser2 C T 2: 6,107,870 (GRCm39) E49K probably damaging Het
Pskh1 T C 8: 106,656,389 (GRCm39) V355A possibly damaging Het
Psmc2 T C 5: 22,004,549 (GRCm39) V182A possibly damaging Het
Slc26a7 A T 4: 14,621,221 (GRCm39) I55K possibly damaging Het
Slc5a8 G A 10: 88,761,648 (GRCm39) probably null Het
Slitrk3 T C 3: 72,957,672 (GRCm39) R367G probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spata31 A G 13: 65,068,953 (GRCm39) E367G probably benign Het
Srrm3 A T 5: 135,863,892 (GRCm39) probably null Het
Ssmem1 T C 6: 30,517,507 (GRCm39) S6P probably damaging Het
Swap70 A G 7: 109,821,034 (GRCm39) D6G probably benign Het
Syt1 T C 10: 108,419,776 (GRCm39) E295G probably damaging Het
Tap2 A T 17: 34,424,927 (GRCm39) I192F possibly damaging Het
Tgoln1 C T 6: 72,591,068 (GRCm39) R348H probably damaging Het
Tln2 C T 9: 67,134,389 (GRCm39) V1373I possibly damaging Het
Tmc2 A G 2: 130,089,854 (GRCm39) D613G possibly damaging Het
Tmem62 T A 2: 120,837,483 (GRCm39) Y597N probably benign Het
Trhr2 T A 8: 123,084,185 (GRCm39) T272S probably damaging Het
Vmn2r92 T C 17: 18,372,198 (GRCm39) S3P probably benign Het
Wdfy3 A T 5: 102,089,313 (GRCm39) I627N probably damaging Het
Zfhx4 T C 3: 5,478,076 (GRCm39) S3564P probably damaging Het
Zfp467 T G 6: 48,416,013 (GRCm39) E213A possibly damaging Het
Zfp746 T G 6: 48,041,411 (GRCm39) K437N probably damaging Het
Zfp853 A G 5: 143,274,840 (GRCm39) probably benign Het
Zranb1 T A 7: 132,551,496 (GRCm39) V49D probably benign 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
IGL02633:Rbfox1 APN 16 7,110,078 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCCCCAAGTCTGCAAGTTCATGTTG -3'
(R):5'- AGCAGAGCCCCATGCTTACTTCAC -3'

Sequencing Primer
(F):5'- GTGCATGTTCAACTTCCATAGAC -3'
(R):5'- CCATGCTTACTTCACAAGGTCATTAG -3'
Posted On 2014-05-09