Incidental Mutation 'R7104:Rbfox1'
ID 551082
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 045196-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7104 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 5703219-7229390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7170867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 276 (R276S)
Ref Sequence ENSEMBL: ENSMUSP00000049970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231031] [ENSMUST00000231088] [ENSMUST00000231194]
AlphaFold Q9JJ43
Predicted Effect possibly damaging
Transcript: ENSMUST00000056416
AA Change: R276S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: R276S

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 possibly damaging
Transcript: ENSMUST00000115841
AA Change: R276S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: R276S

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: R296S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230658
AA Change: R276S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000231031
AA Change: R12S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231088
AA Change: R238S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000231194
AA Change: R276S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,627,891 (GRCm39) E232G probably damaging Het
Atf7 A G 15: 102,442,670 (GRCm39) S480P probably benign Het
Cdk14 A G 5: 5,245,325 (GRCm39) I166T possibly damaging Het
Cdk5rap2 G T 4: 70,267,393 (GRCm39) F358L probably benign Het
Cplane1 T C 15: 8,223,928 (GRCm39) L897P possibly damaging Het
Cytip A G 2: 58,049,986 (GRCm39) S28P probably benign Het
Dennd5b C T 6: 148,946,102 (GRCm39) R503Q probably damaging Het
Dnajc10 T A 2: 80,171,159 (GRCm39) C480S probably damaging Het
Drc7 A G 8: 95,785,711 (GRCm39) D189G probably damaging Het
Engase G A 11: 118,372,121 (GRCm39) V138M probably damaging Het
Esyt3 C A 9: 99,220,840 (GRCm39) R121L probably damaging Het
Frem1 T G 4: 82,858,918 (GRCm39) I1516L probably benign Het
Gatad2b T A 3: 90,258,724 (GRCm39) I249N probably damaging Het
Grk6 T C 13: 55,602,219 (GRCm39) S383P probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hipk2 A G 6: 38,795,579 (GRCm39) L230P probably damaging Het
Hivep1 A T 13: 42,310,814 (GRCm39) Q1018L probably benign Het
Itgad T C 7: 127,797,550 (GRCm39) F927S probably benign Het
Itgb3bp A G 4: 99,702,335 (GRCm39) V3A probably damaging Het
Kcnh7 G T 2: 62,618,031 (GRCm39) A486D possibly damaging Het
Krt1c T C 15: 101,723,522 (GRCm39) T318A probably benign Het
Ndrg1 A G 15: 66,818,377 (GRCm39) F77S probably damaging Het
Nlrp4c T A 7: 6,068,708 (GRCm39) L203* probably null Het
Nos1 T A 5: 118,085,496 (GRCm39) C1275S probably damaging Het
Or14a256 T C 7: 86,264,900 (GRCm39) S318G probably null Het
Or4a69 A G 2: 89,313,458 (GRCm39) V7A possibly damaging Het
Or5an9 T C 19: 12,187,242 (GRCm39) I104T possibly damaging Het
Or5d39 T C 2: 87,979,716 (GRCm39) T216A possibly damaging Het
Or5j3 T A 2: 86,128,564 (GRCm39) S135T probably benign Het
Or8b12b A T 9: 37,684,437 (GRCm39) N161Y possibly damaging Het
Pip4k2b T C 11: 97,623,542 (GRCm39) M67V possibly damaging Het
Polq C A 16: 36,909,715 (GRCm39) Y2366* probably null Het
Prg3 T C 2: 84,819,097 (GRCm39) S8P probably benign Het
Prl7c1 A T 13: 27,962,952 (GRCm39) L17* probably null Het
Prl8a8 A T 13: 27,695,479 (GRCm39) S51R probably damaging Het
Pttg1 G C 11: 43,311,976 (GRCm39) P160A probably benign Het
Rnase2a T G 14: 51,492,988 (GRCm39) M126L probably benign Het
Secisbp2 A T 13: 51,810,943 (GRCm39) K202* probably null Het
Sema6c A G 3: 95,076,156 (GRCm39) H236R possibly damaging Het
Septin12 A G 16: 4,809,857 (GRCm39) L181P probably damaging Het
Shc3 A T 13: 51,585,241 (GRCm39) V458D possibly damaging Het
Tecta A G 9: 42,278,239 (GRCm39) Y1090H probably benign Het
Thsd7a A T 6: 12,379,429 (GRCm39) N998K Het
Tmem131l A T 3: 83,826,766 (GRCm39) S1184T possibly damaging Het
Tnfsf15 T C 4: 63,647,887 (GRCm39) D251G probably damaging Het
Ttyh3 T C 5: 140,615,540 (GRCm39) E348G probably benign Het
Unc5c T C 3: 141,439,665 (GRCm39) L186P probably damaging Het
Vmn2r37 A T 7: 9,219,045 (GRCm39) N446K probably damaging Het
Vmn2r63 T C 7: 42,577,959 (GRCm39) D193G possibly damaging Het
Vmn2r85 A T 10: 130,262,376 (GRCm39) M121K probably benign Het
Vmn2r88 A G 14: 51,651,253 (GRCm39) D189G Het
Vwc2l C A 1: 70,768,252 (GRCm39) C105* probably null Het
Wdr72 T A 9: 74,055,597 (GRCm39) D275E probably damaging Het
Zfhx4 A T 3: 5,467,549 (GRCm39) D2594V probably damaging Het
Zfp174 C T 16: 3,672,269 (GRCm39) H273Y probably benign Het
Zwilch A G 9: 64,068,658 (GRCm39) S203P 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
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
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'- CTGTTTCAGGTGTGCAGCAC -3'
(R):5'- TTCAGGTAGGGTGGTCAAGAC -3'

Sequencing Primer
(F):5'- CCATCTTGCTAATAGAGAGTAGGCTG -3'
(R):5'- TCAAGACCATCATGCGTTGG -3'
Posted On 2019-05-15