Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Rbfox2'

259874

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

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76963190-77191204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76983451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 270 (I270T)

Ref Sequence

ENSEMBL: ENSMUSP00000154522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000111581] [ENSMUST00000166610] [ENSMUST00000171751] [ENSMUST00000227314] [ENSMUST00000227533] [ENSMUST00000228087] [ENSMUST00000227930] [ENSMUST00000228558]

AlphaFold

Q8BP71

Predicted Effect

probably benign
Transcript: ENSMUST00000048145
AA Change: I316T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: I316T

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
AA Change: I248T

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129372
Gene: ENSMUSG00000033565
AA Change: I248T

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
AA Change: I248T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000130673
Gene: ENSMUSG00000033565
AA Change: I248T

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
AA Change: I316T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
AA Change: I316T

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 damaging
Transcript: ENSMUST00000227314
AA Change: I248T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227533
AA Change: I216T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228087
AA Change: I248T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227930
AA Change: I150T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

unknown
Transcript: ENSMUST00000228361
AA Change: I261T

Predicted Effect

probably damaging
Transcript: ENSMUST00000228558
AA Change: I270T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.3051

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	Het

Other mutations in Rbfox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF027:Rbfox2	UTSW	15	77,016,973 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGGCGAGACATGCTCTTATC -3'
(R):5'- CCTGTCTGCTACTCAGTGAC -3'

Sequencing Primer
(F):5'- CCTTATGATCACATCCAGGTAGG -3'
(R):5'- TGCTACTCAGTGACCTCTGG -3'

Posted On

2015-01-23