Incidental Mutation 'R3406:Rbfox3'
ID 259393
Institutional Source Beutler Lab
Gene Symbol Rbfox3
Ensembl Gene ENSMUSG00000025576
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 3
Synonyms NeuN, D11Bwg0517e, Hrnbp3, Neuna60
MMRRC Submission 040624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R3406 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118380588-118802423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118387283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 277 (Q277L)
Ref Sequence ENSEMBL: ENSMUSP00000113636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017576] [ENSMUST00000069343] [ENSMUST00000103023] [ENSMUST00000106278] [ENSMUST00000117731] [ENSMUST00000120061] [ENSMUST00000154746]
AlphaFold Q8BIF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000017576
AA Change: Q277L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017576
Gene: ENSMUSG00000025576
AA Change: Q277L

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: Q246L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000069598
Gene: ENSMUSG00000025576
AA Change: Q246L

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 possibly damaging
Transcript: ENSMUST00000117731
AA Change: Q277L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113636
Gene: ENSMUSG00000025576
AA Change: Q277L

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
Meta Mutation Damage Score 0.0631 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,859,338 (GRCm39) M1K probably null Het
Adam34l A T 8: 44,079,089 (GRCm39) C378* probably null Het
Bdkrb2 T C 12: 105,558,755 (GRCm39) V332A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Chd4 C A 6: 125,098,970 (GRCm39) T1586K probably benign Het
Cnga3 A G 1: 37,301,146 (GRCm39) E622G probably benign Het
Dbh A G 2: 27,064,977 (GRCm39) D396G possibly damaging Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Esp4 T A 17: 40,913,336 (GRCm39) L68M possibly damaging Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fbxo38 T C 18: 62,647,914 (GRCm39) T875A probably damaging Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hmcn2 C T 2: 31,323,284 (GRCm39) probably benign Het
Hook2 A G 8: 85,720,613 (GRCm39) probably benign Het
Irx3 A G 8: 92,525,555 (GRCm39) S507P unknown Het
Kazn C A 4: 141,966,506 (GRCm39) probably benign Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Lyst T A 13: 13,809,815 (GRCm39) M495K possibly damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncdn C T 4: 126,642,388 (GRCm39) R423Q probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nek8 G T 11: 78,061,572 (GRCm39) S319* probably null Het
Or11g7 G A 14: 50,690,653 (GRCm39) C48Y probably benign Het
Or52m2 T C 7: 102,263,993 (GRCm39) M68V possibly damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pcdhb15 C A 18: 37,608,442 (GRCm39) A558E probably benign Het
Plrg1 T A 3: 82,978,526 (GRCm39) W431R probably damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Siah3 A G 14: 75,763,421 (GRCm39) D224G probably damaging Het
Slc22a6 T C 19: 8,598,675 (GRCm39) L244P probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Tbck T A 3: 132,432,845 (GRCm39) N418K probably benign Het
Tcp11x2 T C X: 134,555,733 (GRCm39) N474S probably damaging Het
Tenm3 A C 8: 48,681,590 (GRCm39) V2680G probably damaging Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Tlr6 C T 5: 65,110,772 (GRCm39) V712M probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Znrf2 A T 6: 54,861,776 (GRCm39) N229I probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGATGCCATGGGTCTATGTGC -3'
(R):5'- CTCTACTGCTGAAGAGGACAG -3'

Sequencing Primer
(F):5'- GAAGGGCAGACGGACTTCTC -3'
(R):5'- CTGAAGAGGACAGCTGCCTG -3'
Posted On 2015-01-23