Incidental Mutation 'IGL01716:Rbfox3'
ID104935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbfox3
Ensembl Gene ENSMUSG00000025576
Gene NameRNA binding protein, fox-1 homolog (C. elegans) 3
SynonymsD11Bwg0517e, NeuN, Neuna60, Hrnbp3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL01716
Quality Score
Status
Chromosome11
Chromosomal Location118489762-118911597 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118513289 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 28 (H28R)
Ref Sequence ENSEMBL: ENSMUSP00000113987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000136551]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017576
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000069343
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000103023
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000106278
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000117731
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000120061
AA Change: H28R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576
AA Change: H28R

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 possibly damaging
Transcript: ENSMUST00000136551
AA Change: H28R

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119255
Gene: ENSMUSG00000025576
AA Change: H28R

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 24 29 N/A INTRINSIC
RRM 100 169 6.65e-20 SMART
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apba2 T C 7: 64,745,826 probably benign Het
Asap2 A G 12: 21,254,306 D741G possibly damaging Het
Cfap65 T C 1: 74,927,194 T325A probably benign Het
Cyp2b23 A T 7: 26,679,490 V183E probably damaging Het
Cyp4f14 T A 17: 32,905,496 probably benign Het
Dip2b A G 15: 100,209,636 T1176A probably benign Het
Dnah1 A G 14: 31,263,378 I3852T probably benign Het
E430018J23Rik A G 7: 127,392,036 S260P possibly damaging Het
Exoc6 T A 19: 37,682,964 S801T probably damaging Het
Fancd2os T C 6: 113,597,654 I130M probably damaging Het
Flywch1 A G 17: 23,763,026 V68A probably benign Het
Kif24 T C 4: 41,393,454 T1140A probably benign Het
Limk2 C T 11: 3,358,990 probably null Het
Mag C T 7: 30,900,387 V576I probably benign Het
Mei4 C T 9: 81,890,182 A16V probably damaging Het
Ncoa7 A G 10: 30,662,334 I685T probably damaging Het
Nfxl1 A T 5: 72,540,934 V256E probably damaging Het
Olfr1015 A T 2: 85,786,143 I211F probably damaging Het
Olfr352 T A 2: 36,869,667 F34I probably benign Het
Olfr403 C T 11: 74,196,381 R293W probably benign Het
Pcdhb2 T C 18: 37,296,738 V588A probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcdhb9 T A 18: 37,403,175 S741T probably damaging Het
Plekha4 C A 7: 45,534,343 S66R probably damaging Het
Prex2 A G 1: 11,266,054 N1492S probably benign Het
Reep2 C T 18: 34,846,249 T209I probably benign Het
Rptn A G 3: 93,396,710 H450R possibly damaging Het
Spock3 A G 8: 63,355,350 D427G unknown Het
Tnfrsf1b C T 4: 145,215,923 C430Y probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Tubgcp3 T C 8: 12,641,094 probably benign Het
Upp2 A C 2: 58,790,046 T295P probably damaging Het
Xpo7 A G 14: 70,685,555 V528A probably damaging Het
Zc3h7a A G 16: 11,145,716 C714R probably damaging Het
Zpbp A T 11: 11,404,052 S295T probably benign Het
Other mutations in Rbfox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Rbfox3 APN 11 118505613 splice site probably benign
IGL01622:Rbfox3 APN 11 118505614 splice site probably benign
IGL01623:Rbfox3 APN 11 118505614 splice site probably benign
IGL01772:Rbfox3 APN 11 118496971 missense probably damaging 0.98
IGL03162:Rbfox3 APN 11 118496431 missense probably benign 0.06
PIT4431001:Rbfox3 UTSW 11 118495221 missense probably damaging 1.00
R0267:Rbfox3 UTSW 11 118495240 missense probably benign 0.00
R1659:Rbfox3 UTSW 11 118494155 missense probably damaging 0.99
R1681:Rbfox3 UTSW 11 118505669 missense probably damaging 1.00
R1698:Rbfox3 UTSW 11 118495221 missense probably damaging 1.00
R1731:Rbfox3 UTSW 11 118496936 critical splice donor site probably null
R2134:Rbfox3 UTSW 11 118497016 missense probably damaging 1.00
R2249:Rbfox3 UTSW 11 118503738 missense probably damaging 0.99
R3051:Rbfox3 UTSW 11 118502888 missense probably damaging 1.00
R3404:Rbfox3 UTSW 11 118496457 missense possibly damaging 0.93
R3405:Rbfox3 UTSW 11 118496457 missense possibly damaging 0.93
R3406:Rbfox3 UTSW 11 118496457 missense possibly damaging 0.93
R5276:Rbfox3 UTSW 11 118496352 missense probably damaging 1.00
R7243:Rbfox3 UTSW 11 118513274 missense probably damaging 1.00
X0013:Rbfox3 UTSW 11 118497041 missense probably benign 0.29
Posted On2014-01-21