Incidental Mutation 'RF027:Rbfox2'
ID 604199
Institutional Source Beutler Lab
Gene Symbol Rbfox2
Ensembl Gene ENSMUSG00000033565
Gene Name RNA binding protein, fox-1 homolog (C. elegans) 2
Synonyms Rbm9, 2810460A15Rik, Fxh, Fbm2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.580) question?
Stock # RF027 (G1)
Quality Score 213.009
Status Not validated
Chromosome 15
Chromosomal Location 76963190-77191204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 77016973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 134 (Q134K)
Ref Sequence ENSEMBL: ENSMUSP00000130739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000111581] [ENSMUST00000166610] [ENSMUST00000171751] [ENSMUST00000227314] [ENSMUST00000227533] [ENSMUST00000227930] [ENSMUST00000228087] [ENSMUST00000228558] [ENSMUST00000228582]
AlphaFold Q8BP71
Predicted Effect probably damaging
Transcript: ENSMUST00000048145
AA Change: Q134K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: Q134K

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 91 107 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 156 178 N/A INTRINSIC
RRM 181 252 1.77e-24 SMART
Pfam:Fox-1_C 319 374 2.9e-18 PFAM
low complexity region 375 390 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111581
AA Change: Q66K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129372
Gene: ENSMUSG00000033565
AA Change: Q66K

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
low complexity region 71 82 N/A INTRINSIC
low complexity region 88 110 N/A INTRINSIC
RRM 113 184 1.77e-24 SMART
Pfam:Fox-1_C 252 350 3.7e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166610
AA Change: Q66K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130673
Gene: ENSMUSG00000033565
AA Change: Q66K

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
low complexity region 71 82 N/A INTRINSIC
low complexity region 88 110 N/A INTRINSIC
RRM 113 184 1.77e-24 SMART
Pfam:Fox-1_C 255 353 6.2e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171751
AA Change: Q134K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
AA Change: Q134K

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 91 107 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 156 178 N/A INTRINSIC
RRM 181 252 1.77e-24 SMART
Pfam:Fox-1_C 324 421 7e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227314
AA Change: Q66K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227533
AA Change: Q66K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227930
AA Change: Q66K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000228087
AA Change: Q66K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000228558
AA Change: Q88K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228582
AA Change: Q117K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit normal spontaneous and kainic acid-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Kri1 CTCCTCCT C 9: 21,192,364 (GRCm39) probably null Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign Het
Other mutations in Rbfox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Rbfox2 APN 15 76,987,136 (GRCm39) missense probably damaging 1.00
R0026:Rbfox2 UTSW 15 76,968,357 (GRCm39) missense possibly damaging 0.66
R0130:Rbfox2 UTSW 15 76,976,057 (GRCm39) intron probably benign
R0446:Rbfox2 UTSW 15 76,983,455 (GRCm39) missense probably damaging 0.98
R0731:Rbfox2 UTSW 15 76,983,479 (GRCm39) missense probably benign 0.21
R3013:Rbfox2 UTSW 15 77,017,120 (GRCm39) missense probably damaging 1.00
R3715:Rbfox2 UTSW 15 76,983,451 (GRCm39) missense probably damaging 0.97
R4094:Rbfox2 UTSW 15 77,016,925 (GRCm39) missense probably damaging 0.99
R4543:Rbfox2 UTSW 15 77,190,568 (GRCm39) missense probably benign 0.01
R4799:Rbfox2 UTSW 15 76,976,018 (GRCm39) missense probably benign 0.28
R6194:Rbfox2 UTSW 15 76,968,357 (GRCm39) missense possibly damaging 0.66
R7316:Rbfox2 UTSW 15 77,016,929 (GRCm39) missense possibly damaging 0.92
R7501:Rbfox2 UTSW 15 76,989,834 (GRCm39) missense probably benign 0.36
R7687:Rbfox2 UTSW 15 77,190,694 (GRCm39) missense unknown
R8030:Rbfox2 UTSW 15 76,969,776 (GRCm39) critical splice donor site probably null
R8103:Rbfox2 UTSW 15 76,983,654 (GRCm39) missense probably damaging 1.00
R9093:Rbfox2 UTSW 15 77,190,658 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACATGCATGCTGGGCAGTG -3'
(R):5'- AGAACATGCTAAGAGTCCTGTG -3'

Sequencing Primer
(F):5'- CATGCTGGGCAGTGAGTAG -3'
(R):5'- CATGCTAAGAGTCCTGTGTGATAAAG -3'
Posted On 2019-12-04