Incidental Mutation 'IGL01070:Rbfox1'
ID 52885
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 # IGL01070
Quality Score
Status
Chromosome 16
Chromosomal Location 5703219-7229390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 7124307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 219 (S219R)
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
AA Change: S219R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: S219R

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: S219R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: S219R

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: S239R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230658
AA Change: S219R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000231088
Predicted Effect possibly damaging
Transcript: ENSMUST00000231194
AA Change: S219R

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Rbfox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Rbfox1 APN 16 7,187,698 (GRCm39) missense probably benign 0.02
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
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 2013-06-21