Incidental Mutation 'IGL01772:Rbfox3'
ID 153693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbfox3
Ensembl Gene ENSMUSG00000025576
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 3
Synonyms NeuN, D11Bwg0517e, Hrnbp3, Neuna60
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL01772
Quality Score
Status
Chromosome 11
Chromosomal Location 118380588-118802423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 118387797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 241 (A241E)
Ref Sequence ENSEMBL: ENSMUSP00000113987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000154746]
AlphaFold Q8BIF2
Predicted Effect probably damaging
Transcript: ENSMUST00000017576
AA Change: A241E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: A241E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 171 1.01e-24 SMART
Pfam:Fox-1_C 208 269 1e-22 PFAM
Pfam:Fox-1_C 279 345 3.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069343
AA Change: A210E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: A210E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 165 8.3e-2 SMART
Pfam:Fox-1_C 176 229 4.1e-15 PFAM
Pfam:Fox-1_C 226 314 4.8e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103023
AA Change: A241E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576
AA Change: A241E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 171 1.01e-24 SMART
Pfam:Fox-1_C 207 298 4.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106278
AA Change: A241E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576
AA Change: A241E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 171 1.01e-24 SMART
Pfam:Fox-1_C 207 298 4.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117731
AA Change: A241E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: A241E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 171 1.01e-24 SMART
Pfam:Fox-1_C 207 260 3.5e-15 PFAM
Pfam:Fox-1_C 257 345 4.3e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120061
AA Change: A241E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576
AA Change: A241E

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 171 1.01e-24 SMART
Pfam:Fox-1_C 207 298 6.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154746
AA Change: A124E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576
AA Change: A124E

DomainStartEndE-ValueType
RRM 1 54 8.6e-5 SMART
Pfam:Fox-1_C 90 142 5.5e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit reduced brain weight, increased susceptibility kainic acid-induced seizures, decreased anxiety-related behaviors, and deficits in synaptic transmission and plasticity in the dentate gyrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C T 11: 58,313,710 (GRCm39) P113S probably benign Het
Ano2 T C 6: 126,013,821 (GRCm39) Y881H probably damaging Het
Coro2b G T 9: 62,333,090 (GRCm39) P131T probably damaging Het
Glra3 A G 8: 56,542,090 (GRCm39) I278V probably benign Het
Grin2d T C 7: 45,507,890 (GRCm39) D392G probably benign Het
Ifrd2 A G 9: 107,469,331 (GRCm39) S360G probably benign Het
Kdelr3 A T 15: 79,407,121 (GRCm39) probably benign Het
Mtdh T A 15: 34,140,027 (GRCm39) S345R probably damaging Het
Mtrex A G 13: 113,027,859 (GRCm39) F667S probably benign Het
Ncor1 G A 11: 62,240,173 (GRCm39) probably benign Het
Nf1 T A 11: 79,281,075 (GRCm39) V110D probably damaging Het
Nlk T A 11: 78,480,201 (GRCm39) H256L probably damaging Het
Or52w1 A T 7: 105,017,641 (GRCm39) D36V probably benign Het
Or52z13 T A 7: 103,247,120 (GRCm39) I199N probably benign Het
Or8c16 A T 9: 38,130,905 (GRCm39) Y262F probably damaging Het
Pgr T C 9: 8,946,637 (GRCm39) probably benign Het
Ptprn A G 1: 75,228,914 (GRCm39) Y834H probably damaging Het
Tarbp1 G A 8: 127,173,970 (GRCm39) probably benign Het
Ttn A T 2: 76,598,055 (GRCm39) D19619E probably damaging Het
Unc13d C A 11: 115,967,358 (GRCm39) E45D possibly damaging Het
Vil1 A G 1: 74,454,278 (GRCm39) I14V probably benign Het
Other mutations in Rbfox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Rbfox3 APN 11 118,396,439 (GRCm39) splice site probably benign
IGL01622:Rbfox3 APN 11 118,396,440 (GRCm39) splice site probably benign
IGL01623:Rbfox3 APN 11 118,396,440 (GRCm39) splice site probably benign
IGL01716:Rbfox3 APN 11 118,404,115 (GRCm39) missense possibly damaging 0.89
IGL03162:Rbfox3 APN 11 118,387,257 (GRCm39) missense probably benign 0.06
PIT4431001:Rbfox3 UTSW 11 118,386,047 (GRCm39) missense probably damaging 1.00
R0267:Rbfox3 UTSW 11 118,386,066 (GRCm39) missense probably benign 0.00
R1659:Rbfox3 UTSW 11 118,384,981 (GRCm39) missense probably damaging 0.99
R1681:Rbfox3 UTSW 11 118,396,495 (GRCm39) missense probably damaging 1.00
R1698:Rbfox3 UTSW 11 118,386,047 (GRCm39) missense probably damaging 1.00
R1731:Rbfox3 UTSW 11 118,387,762 (GRCm39) critical splice donor site probably null
R2134:Rbfox3 UTSW 11 118,387,842 (GRCm39) missense probably damaging 1.00
R2249:Rbfox3 UTSW 11 118,394,564 (GRCm39) missense probably damaging 0.99
R3051:Rbfox3 UTSW 11 118,393,714 (GRCm39) missense probably damaging 1.00
R3404:Rbfox3 UTSW 11 118,387,283 (GRCm39) missense possibly damaging 0.93
R3405:Rbfox3 UTSW 11 118,387,283 (GRCm39) missense possibly damaging 0.93
R3406:Rbfox3 UTSW 11 118,387,283 (GRCm39) missense possibly damaging 0.93
R5276:Rbfox3 UTSW 11 118,387,178 (GRCm39) missense probably damaging 1.00
R7243:Rbfox3 UTSW 11 118,404,100 (GRCm39) missense probably damaging 1.00
R7797:Rbfox3 UTSW 11 118,387,310 (GRCm39) missense possibly damaging 0.84
X0013:Rbfox3 UTSW 11 118,387,867 (GRCm39) missense probably benign 0.29
Posted On 2014-02-04