Incidental Mutation 'IGL00895:Rbfox1'
ID29123
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 #IGL00895
Quality Score
Status
Chromosome16
Chromosomal Location5885355-7411526 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7369834 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 43 (K43N)
Ref Sequence ENSEMBL: ENSMUSP00000154916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000231031] [ENSMUST00000231088] [ENSMUST00000231194]
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
AA Change: K327N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000231031
AA Change: K43N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,202,924 W154R probably damaging Het
Ccnc T A 4: 21,742,642 Y156* probably null Het
Clca1 A C 3: 145,024,596 W163G probably damaging Het
Cntnap5b C T 1: 100,383,585 T972I probably damaging Het
Cpn2 C T 16: 30,260,520 S121N probably benign Het
Dcc T C 18: 71,810,800 E260G probably damaging Het
Dnah6 A T 6: 73,156,350 N1091K possibly damaging Het
Dpp9 G T 17: 56,205,240 F249L probably damaging Het
Dscaml1 A G 9: 45,751,253 D1839G probably damaging Het
E330017A01Rik A T 16: 58,637,696 Y81N probably benign Het
Esr1 C T 10: 4,997,890 R481L probably benign Het
Frem2 G T 3: 53,585,595 D1833E probably damaging Het
Ica1 T C 6: 8,653,514 D343G probably benign Het
Il27 T C 7: 126,589,383 H206R probably benign Het
Med14 A G X: 12,680,800 V723A probably damaging Het
Msh3 C A 13: 92,344,964 G347C probably damaging Het
Nfasc T A 1: 132,573,798 K1262* probably null Het
Nlrp9a A T 7: 26,558,678 M485L probably benign Het
Olfr1216 A G 2: 89,013,609 F152L probably benign Het
Olfr1313 A G 2: 112,071,755 V276A probably damaging Het
Pcdhb5 T G 18: 37,320,983 L139V probably benign Het
Scn5a G T 9: 119,513,104 probably null Het
Senp7 G T 16: 56,082,377 R21L probably damaging Het
Ssb G A 2: 69,866,262 V47I probably benign Het
Ttll8 T A 15: 88,933,528 S221C probably damaging Het
Other mutations in Rbfox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Rbfox1 APN 16 7306443 missense possibly damaging 0.78
IGL02633:Rbfox1 APN 16 7292214 missense probably damaging 0.99
IGL03037:Rbfox1 APN 16 7292283 splice site probably benign
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 On2013-04-17