Incidental Mutation 'R0006:Rbfox1'
ID 43670
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 041980-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0006 (G1)
Quality Score 180
Status Validated
Chromosome 16
Chromosomal Location 5703219-7229390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7148284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 244 (S244R)
Ref Sequence ENSEMBL: ENSMUSP00000155069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]
AlphaFold Q9JJ43
Predicted Effect probably benign
Transcript: ENSMUST00000056416
AA Change: S244R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: S244R

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
AA Change: S244R

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: S244R

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
AA Change: S264R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000230658
AA Change: S244R

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231088
AA Change: S206R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231194
AA Change: S244R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.1518 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 97% (67/69)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,813,935 (GRCm39) probably benign Het
Aldh3a1 G A 11: 61,107,927 (GRCm39) V324M probably damaging Het
Als2cl T A 9: 110,723,686 (GRCm39) L694Q possibly damaging Het
Appl2 A G 10: 83,438,762 (GRCm39) F556L probably damaging Het
Atad2b T A 12: 4,992,030 (GRCm39) S210T possibly damaging Het
Aurka A G 2: 172,201,673 (GRCm39) probably null Het
Boc C T 16: 44,316,812 (GRCm39) V444I probably benign Het
Cfap61 G A 2: 145,919,232 (GRCm39) V655I probably benign Het
Chd8 A G 14: 52,472,750 (GRCm39) I351T possibly damaging Het
Chid1 T A 7: 141,076,339 (GRCm39) probably benign Het
Cyp3a41a T A 5: 145,641,606 (GRCm39) H288L probably benign Het
Dnase2b T A 3: 146,288,244 (GRCm39) I284F probably damaging Het
Dock2 A G 11: 34,262,453 (GRCm39) probably benign Het
Dst C T 1: 34,267,999 (GRCm39) T5325I probably benign Het
Erbb3 A G 10: 128,409,279 (GRCm39) probably null Het
Fancl A G 11: 26,419,695 (GRCm39) N316S possibly damaging Het
Farsa G T 8: 85,587,934 (GRCm39) probably benign Het
Fibcd1 T G 2: 31,728,599 (GRCm39) D86A probably damaging Het
Gab1 A T 8: 81,496,359 (GRCm39) M617K possibly damaging Het
Gabrd C A 4: 155,473,058 (GRCm39) V72L probably damaging Het
Ggh C A 4: 20,054,155 (GRCm39) T150K possibly damaging Het
Gnb3 G A 6: 124,812,767 (GRCm39) probably benign Het
Hephl1 T A 9: 14,988,060 (GRCm39) T683S probably benign Het
Hmcn1 G A 1: 150,684,427 (GRCm39) P381L probably damaging Het
Hspa8 T G 9: 40,715,925 (GRCm39) N544K probably benign Het
Hspg2 C T 4: 137,247,242 (GRCm39) T1155I probably damaging Het
Igdcc4 C T 9: 65,042,382 (GRCm39) probably benign Het
Jazf1 A G 6: 52,871,071 (GRCm39) probably benign Het
Kntc1 T A 5: 123,927,201 (GRCm39) S1219T probably benign Het
L3mbtl1 A T 2: 162,806,489 (GRCm39) Y460F possibly damaging Het
Lcor A G 19: 41,573,338 (GRCm39) T698A probably benign Het
Lyrm7 T A 11: 54,739,423 (GRCm39) T76S probably benign Het
Map1b C T 13: 99,571,810 (GRCm39) V304M probably damaging Het
Mcub A C 3: 129,727,414 (GRCm39) probably benign Het
Muc13 T C 16: 33,623,518 (GRCm39) S271P probably damaging Het
Myo16 A G 8: 10,525,988 (GRCm39) K843E probably damaging Het
Nav2 A G 7: 49,102,978 (GRCm39) E531G possibly damaging Het
Niban3 A G 8: 72,057,688 (GRCm39) probably benign Het
Nup188 T C 2: 30,212,035 (GRCm39) V553A probably benign Het
Or1e16 A G 11: 73,286,314 (GRCm39) F178S probably damaging Het
Or1e1c A G 11: 73,266,414 (GRCm39) M283V possibly damaging Het
Or52d1 A G 7: 103,755,527 (GRCm39) I14V probably benign Het
Or6z1 A G 7: 6,504,610 (GRCm39) I205T possibly damaging Het
Or8b9 T A 9: 37,766,516 (GRCm39) V134D possibly damaging Het
P4ha3 C T 7: 99,968,155 (GRCm39) R378* probably null Het
Rap1gds1 G T 3: 138,689,632 (GRCm39) probably null Het
Rpp40 G A 13: 36,080,718 (GRCm39) P339S probably damaging Het
Rsph4a T C 10: 33,785,144 (GRCm39) C148R probably damaging Het
Skint5 T C 4: 113,751,059 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,073,855 (GRCm39) S1405P probably damaging Het
Tex35 T C 1: 156,927,314 (GRCm39) K154E possibly damaging Het
Thada T C 17: 84,533,468 (GRCm39) N1661S probably benign Het
Tle4 A G 19: 14,444,078 (GRCm39) probably benign Het
Tnxb T C 17: 34,901,266 (GRCm39) S1027P probably benign Het
Tpm3 T A 3: 89,994,968 (GRCm39) probably benign Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Uggt2 A T 14: 119,287,075 (GRCm39) F640L probably benign Het
Vmn1r20 T G 6: 57,409,290 (GRCm39) H205Q probably damaging Het
Wbp2 T C 11: 115,970,614 (GRCm39) probably null Het
Xirp1 T C 9: 119,846,520 (GRCm39) I788V probably benign Het
Zc3hav1 A G 6: 38,296,637 (GRCm39) probably null Het
Zfp687 A G 3: 94,918,767 (GRCm39) I335T probably damaging Het
Zfpm1 A G 8: 123,061,227 (GRCm39) Y264C 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACCCCTTTTGAGAATGCCACAC -3'
(R):5'- TGCATACCTGGGAGGCAGAATCAC -3'

Sequencing Primer
(F):5'- GCAGGCTGTTACTAACTAGACC -3'
(R):5'- ATCACTATGAATGTGAGCAAGC -3'
Posted On 2013-05-29