Incidental Mutation 'IGL01352:Rbfox3'
ID75414
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 #IGL01352
Quality Score
Status
Chromosome11
Chromosomal Location118489762-118911597 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 118505613 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000136551] [ENSMUST00000154746]
Predicted Effect probably benign
Transcript: ENSMUST00000017576
SMART Domains Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000069343
SMART Domains Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000103023
SMART Domains Protein: ENSMUSP00000099312
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000106278
SMART Domains Protein: ENSMUSP00000101885
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000117731
SMART Domains Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000120061
SMART Domains Protein: ENSMUSP00000113987
Gene: ENSMUSG00000025576

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 benign
Transcript: ENSMUST00000136551
SMART Domains Protein: ENSMUSP00000119255
Gene: ENSMUSG00000025576

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
Predicted Effect probably benign
Transcript: ENSMUST00000154746
SMART Domains Protein: ENSMUSP00000118332
Gene: ENSMUSG00000025576

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,860,174 I1169V probably benign Het
AI464131 T A 4: 41,499,469 R54* probably null Het
B3gnt5 T C 16: 19,769,213 S61P probably damaging Het
Bambi G A 18: 3,512,071 A152T probably damaging Het
Cacna1c G A 6: 118,656,557 Q930* probably null Het
Ccdc178 A G 18: 22,018,974 probably benign Het
Chit1 C T 1: 134,148,490 T295M probably damaging Het
Cntnap5c C A 17: 58,293,901 N746K probably benign Het
Cyfip2 A T 11: 46,265,996 F422I probably benign Het
Dsg3 A G 18: 20,523,696 M208V probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Gbf1 A G 19: 46,265,215 H574R probably damaging Het
Gm17654 T G 14: 43,575,874 E186D probably damaging Het
Gm8165 T C 14: 43,676,116 N97S unknown Het
Ilf3 C T 9: 21,392,322 L160F possibly damaging Het
Krt84 T A 15: 101,528,774 Q318L probably damaging Het
Lrp2 T A 2: 69,503,526 H1457L possibly damaging Het
Lrrc37a T A 11: 103,499,355 D1748V probably benign Het
Mybl1 T C 1: 9,671,679 E676G probably damaging Het
Myo10 C A 15: 25,701,697 R53S probably damaging Het
Nrap A G 19: 56,379,836 S205P probably benign Het
Olfr1263 A G 2: 90,015,719 D263G probably damaging Het
Olfr67 A T 7: 103,788,078 Y66* probably null Het
Olfr904 A G 9: 38,464,734 N231S probably benign Het
Pkhd1 T A 1: 20,549,715 M894L probably benign Het
Ptpn13 G A 5: 103,486,775 probably null Het
Pycard T C 7: 127,993,502 D9G probably damaging Het
Rnf122 C T 8: 31,124,880 R71* probably null Het
Scel T A 14: 103,533,338 D69E possibly damaging Het
Spag6 T G 2: 18,710,473 M21R possibly damaging Het
Stat5a A G 11: 100,881,072 D650G probably damaging Het
Tarsl2 T C 7: 65,658,910 I276T possibly damaging Het
Tnfaip2 G T 12: 111,445,619 E151D probably damaging Het
Trio G A 15: 27,901,229 T313I probably benign Het
Ubqln4 A C 3: 88,564,468 M404L probably benign Het
Vps33b T A 7: 80,285,059 probably null Het
Wdfy3 A T 5: 101,944,120 V451D probably damaging Het
Zfp341 G T 2: 154,628,896 A278S probably benign Het
Zp3r C T 1: 130,619,356 A28T possibly damaging Het
Other mutations in Rbfox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Rbfox3 APN 11 118505614 splice site probably benign
IGL01623:Rbfox3 APN 11 118505614 splice site probably benign
IGL01716:Rbfox3 APN 11 118513289 missense possibly damaging 0.89
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 On2013-10-07