Mutagenetix > Incidental Mutation

Incidental Mutation 'R4543:Rbfox2'

392058

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

041778-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R4543 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76963190-77191204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77190568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 59 (M59K)

Ref Sequence

ENSEMBL: ENSMUSP00000130739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048145] [ENSMUST00000171751] [ENSMUST00000228582]

AlphaFold

Q8BP71

Predicted Effect

probably benign
Transcript: ENSMUST00000048145
AA Change: M59K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000048056
Gene: ENSMUSG00000033565
AA Change: M59K

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: ENSMUST00000171751
AA Change: M59K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000130739
Gene: ENSMUSG00000033565
AA Change: M59K

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

probably benign
Transcript: ENSMUST00000228582
AA Change: M59K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

94% (44/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,789,749 (GRCm39)	S500T	probably damaging	Het
Abhd3	T	C	18: 10,706,672 (GRCm39)	D2G	possibly damaging	Het
Ablim1	C	T	19: 57,065,874 (GRCm39)	R366H	possibly damaging	Het
Adgre1	T	A	17: 57,713,874 (GRCm39)	H186Q	probably benign	Het
Ankmy1	G	T	1: 92,812,572 (GRCm39)	A579E	probably damaging	Het
Ap2b1	C	A	11: 83,215,476 (GRCm39)	T140K	probably damaging	Het
Arhgef28	T	A	13: 98,211,508 (GRCm39)	E158D	probably benign	Het
Atp8b4	A	G	2: 126,199,986 (GRCm39)	F885L	probably damaging	Het
Barx2	A	G	9: 31,758,092 (GRCm39)	L282S	unknown	Het
Catsper2	C	T	2: 121,237,890 (GRCm39)	W163*	probably null	Het
Cep295	T	C	9: 15,246,549 (GRCm39)	T588A	possibly damaging	Het
Chil3	T	G	3: 106,067,686 (GRCm39)	K160Q	probably benign	Het
Clca3a1	T	A	3: 144,452,749 (GRCm39)	Q578L	probably damaging	Het
Crp	A	C	1: 172,526,304 (GRCm39)	I130L	probably benign	Het
Dtwd2	C	A	18: 49,857,175 (GRCm39)		probably null	Het
Fads3	T	C	19: 10,019,175 (GRCm39)	F27S	possibly damaging	Het
Gm3604	T	C	13: 62,517,970 (GRCm39)	D109G	probably benign	Het
Gtf2ird1	A	G	5: 134,392,754 (GRCm39)		probably null	Het
H2-K2	C	T	17: 34,218,532 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,104,770 (GRCm39)		probably benign	Het
Il6st	G	A	13: 112,617,993 (GRCm39)	V136M	probably damaging	Het
Immt	T	C	6: 71,828,762 (GRCm39)	S106P	probably damaging	Het
Kat2b	T	C	17: 53,960,168 (GRCm39)	I492T	probably benign	Het
Kcnn2	T	C	18: 45,692,715 (GRCm39)	F97S	probably benign	Het
Kdm4c	A	G	4: 74,248,997 (GRCm39)	I84V	probably benign	Het
Kif7	G	A	7: 79,357,296 (GRCm39)	P637S	probably benign	Het
Lrrcc1	T	A	3: 14,604,851 (GRCm39)	I109K	probably damaging	Het
Med12l	T	A	3: 58,998,929 (GRCm39)	C619S	probably damaging	Het
Mgat4f	T	A	1: 134,317,531 (GRCm39)	M101K	probably benign	Het
Or8g51	A	G	9: 38,608,841 (GRCm39)	S274P	possibly damaging	Het
Polq	T	C	16: 36,881,147 (GRCm39)	C1104R	probably benign	Het
Rft1	T	C	14: 30,383,290 (GRCm39)	V110A	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Slc2a12	T	A	10: 22,540,685 (GRCm39)	V180D	probably damaging	Het
Sox21	CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC	CCAGCGGCGGCGGCGGCAGCGGC	14: 118,472,548 (GRCm39)		probably benign	Het
Stap2	C	T	17: 56,304,604 (GRCm39)		probably null	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tmem132c	A	G	5: 127,582,041 (GRCm39)	T419A	probably benign	Het
Tmprss11a	G	A	5: 86,559,668 (GRCm39)	Q375*	probably null	Het
Trav12-3	CTCTG	CTCTGTCTG	14: 53,859,693 (GRCm39)		probably null	Het
Vmn1r88	T	A	7: 12,911,907 (GRCm39)	S88T	possibly damaging	Het
Zfp622	T	A	15: 25,991,623 (GRCm39)	D143E	possibly damaging	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
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
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'- CCCGATCCTGTTCAATCCCAA -3'
(R):5'- CGACCAGTCAGCTCGCTG -3'

Sequencing Primer
(F):5'- TGTTCAATCCCAACTCCAAAAGG -3'
(R):5'- AGCCATAACCTGAGTCGGAGC -3'

Posted On

2016-06-09