Incidental Mutation 'IGL03162:Rbfox3'
ID 411476
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: 0.138) question?
Stock # IGL03162
Quality Score
Status
Chromosome 11
Chromosomal Location 118380588-118802423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 118387257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 286 (S286A)
Ref Sequence ENSEMBL: ENSMUSP00000113636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000154746]
AlphaFold Q8BIF2
Predicted Effect probably benign
Transcript: ENSMUST00000017576
AA Change: S286A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: S286A

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
AA Change: S255A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: S255A

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
AA Change: S286A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: S286A

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: 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Acsl3 T C 1: 78,676,887 (GRCm39) probably null Het
Adam5 T C 8: 25,271,620 (GRCm39) T596A probably benign Het
Adh6a T A 3: 138,034,880 (GRCm39) Y336* probably null Het
Ak3 A T 19: 29,000,236 (GRCm39) V225D possibly damaging Het
Aldh1a7 T A 19: 20,685,645 (GRCm39) I302F probably benign Het
Amdhd1 T C 10: 93,367,337 (GRCm39) probably null Het
Arhgef18 G A 8: 3,491,301 (GRCm39) probably null Het
Caap1 A T 4: 94,389,261 (GRCm39) probably benign Het
Cdhr4 G A 9: 107,875,210 (GRCm39) G70D probably damaging Het
Celsr3 T C 9: 108,719,757 (GRCm39) F2445S probably damaging Het
Cenpc1 A G 5: 86,185,764 (GRCm39) V249A possibly damaging Het
Clca3a2 C A 3: 144,512,177 (GRCm39) V80F probably damaging Het
Col6a1 T A 10: 76,553,885 (GRCm39) probably benign Het
Commd10 T A 18: 47,220,117 (GRCm39) L198Q probably damaging Het
Cyp2d40 A G 15: 82,644,243 (GRCm39) L294P unknown Het
E2f6 T A 12: 16,868,909 (GRCm39) D77E probably benign Het
Elf5 T A 2: 103,260,751 (GRCm39) H38Q possibly damaging Het
Entrep1 T G 19: 23,965,824 (GRCm39) H225P probably damaging Het
Fcrl6 A G 1: 172,425,820 (GRCm39) V227A probably damaging Het
Fhip2b G T 14: 70,824,994 (GRCm39) D447E probably damaging Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Gm3543 A G 14: 41,802,022 (GRCm39) I154T possibly damaging Het
Gpr150 T A 13: 76,204,950 (GRCm39) probably benign Het
Gstp3 A G 19: 4,109,255 (GRCm39) probably benign Het
Gzmm C T 10: 79,528,790 (GRCm39) T64I probably damaging Het
Hs3st1 T A 5: 39,771,792 (GRCm39) K284* probably null Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih2 A T 2: 10,131,055 (GRCm39) I94N probably damaging Het
Kif26b A G 1: 178,744,497 (GRCm39) N1531S probably benign Het
Kif27 T C 13: 58,459,021 (GRCm39) S937G probably benign Het
Klhl2 A G 8: 65,207,426 (GRCm39) V311A probably damaging Het
Klrb1b T A 6: 128,795,892 (GRCm39) Q109L probably null Het
Lrig2 A G 3: 104,371,613 (GRCm39) F697L probably damaging Het
Lrrc66 T C 5: 73,764,725 (GRCm39) R773G probably benign Het
Mrgpra2b C T 7: 47,113,815 (GRCm39) V306I probably benign Het
Nipbl T C 15: 8,368,463 (GRCm39) H1127R probably benign Het
Nr3c2 A T 8: 77,944,213 (GRCm39) D816V probably damaging Het
Ntmt2 T A 1: 163,530,783 (GRCm39) I219L probably damaging Het
Or10a3 T C 7: 108,480,811 (GRCm39) M1V probably null Het
Or5w19 A C 2: 87,698,484 (GRCm39) M50L probably benign Het
Pdxdc1 A G 16: 13,675,281 (GRCm39) L350P probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla7 T C 2: 24,905,301 (GRCm39) probably benign Het
Ppan T G 9: 20,802,608 (GRCm39) L283R probably damaging Het
Rbl2 A G 8: 91,812,330 (GRCm39) T273A probably benign Het
Recql4 G T 15: 76,590,296 (GRCm39) probably null Het
Slc22a26 T A 19: 7,779,466 (GRCm39) M117L probably benign Het
Sult2a2 T A 7: 13,468,822 (GRCm39) I96K probably damaging Het
Tcf15 G A 2: 151,990,626 (GRCm39) R175H probably benign Het
Uggt1 A T 1: 36,247,037 (GRCm39) V320D probably damaging Het
Vmn2r102 A G 17: 19,914,286 (GRCm39) N617S probably damaging Het
Vpreb3 A G 10: 75,785,133 (GRCm39) Y77C probably damaging Het
Zbbx A T 3: 74,978,930 (GRCm39) probably benign Het
Zfand6 A T 7: 84,283,185 (GRCm39) S57R probably benign Het
Zmym2 A G 14: 57,151,500 (GRCm39) I462V 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
IGL01772:Rbfox3 APN 11 118,387,797 (GRCm39) missense probably damaging 0.98
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 2016-08-02