Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Rbfox2'

50120

Institutional Source

Beutler Lab

Gene Symbol

Rbfox2

Ensembl Gene

ENSMUSG00000033565

Gene Name

RNA binding protein, fox-1 homolog (C. elegans) 2

Synonyms

2810460A15Rik, Fxh, Fbm2, Rbm9

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R0130 (G1)

Quality Score

144

Status

Validated (trace)

Chromosome

Chromosomal Location

77078990-77307004 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 77091857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000111581] [ENSMUST00000166610] [ENSMUST00000171751] [ENSMUST00000227314] [ENSMUST00000227533] [ENSMUST00000227930] [ENSMUST00000228087]

AlphaFold

Q8BP71

Predicted Effect

probably benign
Transcript: ENSMUST00000048145

SMART Domains

Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000111581

SMART Domains

Protein: ENSMUSP00000129372
Gene: ENSMUSG00000033565

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000166610

SMART Domains

Protein: ENSMUSP00000130673
Gene: ENSMUSG00000033565

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000171751

SMART Domains

Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000181870

Predicted Effect

probably benign
Transcript: ENSMUST00000227314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227532

Predicted Effect

probably benign
Transcript: ENSMUST00000227533

Predicted Effect

probably benign
Transcript: ENSMUST00000227930

Predicted Effect

probably benign
Transcript: ENSMUST00000228087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230194

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,686,666	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Apol7c	A	G	15: 77,526,362	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Arfip2	A	G	7: 105,638,998		probably benign	Het
Atp5j2	A	T	5: 145,188,182		probably benign	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
Cd22	A	G	7: 30,869,964	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,069,962	T613A	probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Cenpc1	A	T	5: 86,046,546	D120E	probably benign	Het
Chd3	T	A	11: 69,359,830	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,921,913	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dync1h1	C	A	12: 110,618,674	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,881,732		probably benign	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Fat2	T	A	11: 55,252,118	M4302L	probably benign	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Gde1	A	T	7: 118,695,060	F63L	probably benign	Het
Gjc3	A	G	5: 137,957,940	S28P	probably benign	Het
Gm10250	G	A	15: 5,120,991		probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k11	T	C	19: 5,690,815	L190P	probably damaging	Het
Mki67	T	A	7: 135,696,459	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,309,008	I272F	probably damaging	Het
Myom1	A	T	17: 71,045,755	D358V	probably damaging	Het
Nebl	T	C	2: 17,390,926		probably benign	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,322,418	N14Y	possibly damaging	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr304	T	C	7: 86,386,306	Y118C	probably damaging	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pld2	T	G	11: 70,554,348	N591K	probably benign	Het
Plekha7	A	G	7: 116,170,704	M276T	probably damaging	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Prtg	A	G	9: 72,809,716	Y113C	probably damaging	Het
Rab38	T	A	7: 88,450,541	I88N	probably damaging	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,156,407	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,471,448	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Tectb	G	T	19: 55,181,961	K81N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Tiam1	T	C	16: 89,897,754	M272V	probably benign	Het
Trav13-3	T	A	14: 53,729,776		noncoding transcript	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het

Other mutations in Rbfox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Rbfox2	APN	15	77102936	missense	probably damaging	1.00
R0026:Rbfox2	UTSW	15	77084157	missense	possibly damaging	0.66
R0446:Rbfox2	UTSW	15	77099255	missense	probably damaging	0.98
R0731:Rbfox2	UTSW	15	77099279	missense	probably benign	0.21
R3013:Rbfox2	UTSW	15	77132920	missense	probably damaging	1.00
R3715:Rbfox2	UTSW	15	77099251	missense	probably damaging	0.97
R4094:Rbfox2	UTSW	15	77132725	missense	probably damaging	0.99
R4543:Rbfox2	UTSW	15	77306368	missense	probably benign	0.01
R4799:Rbfox2	UTSW	15	77091818	missense	probably benign	0.28
R6194:Rbfox2	UTSW	15	77084157	missense	possibly damaging	0.66
R7316:Rbfox2	UTSW	15	77132729	missense	possibly damaging	0.92
R7501:Rbfox2	UTSW	15	77105634	missense	probably benign	0.36
R7687:Rbfox2	UTSW	15	77306494	missense	unknown
R8030:Rbfox2	UTSW	15	77085576	critical splice donor site	probably null
R8103:Rbfox2	UTSW	15	77099454	missense	probably damaging	1.00
R9093:Rbfox2	UTSW	15	77306458	missense	probably benign
RF027:Rbfox2	UTSW	15	77132773	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACACGCTCACAAGTCTTGATTGTCC -3'
(R):5'- TCAGTGTAGGCGCTACTGAGTCTTC -3'

Sequencing Primer
(F):5'- TGTCCAAAAAAGCCTCTGTTC -3'
(R):5'- GAGACAAAATGTCCTGATCTAGC -3'

Posted On

2013-06-12