Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Rbfox1'

259060

Institutional Source

Beutler Lab

Gene Symbol

Rbfox1

Ensembl Gene

ENSMUSG00000008658

Gene Name

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

Synonyms

A2bp1, A2bp, FOX1, HRNBP1

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5703219-7229390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7225892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 353 (V353I)

Ref Sequence

ENSEMBL: ENSMUSP00000155321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000231031] [ENSMUST00000231088] [ENSMUST00000231194]

AlphaFold

Q9JJ43

Predicted Effect

probably benign
Transcript: ENSMUST00000056416
AA Change: V353I

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: V353I

Domain	Start	End	E-Value	Type
low complexity region	107	118	N/A	INTRINSIC
RRM	137	208	1.77e-24	SMART
Pfam:Fox-1_C	272	362	1.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115841
AA Change: V353I

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: V353I

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
RRM	117	188	1.77e-24	SMART
Pfam:Fox-1_C	252	341	2.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229741
AA Change: V374I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000231031
AA Change: V90I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231088
AA Change: V315I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231194
AA Change: V353I

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

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	Het

Other mutations in Rbfox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Rbfox1	APN	16	7,187,698 (GRCm39)	missense	probably benign	0.02
IGL01070:Rbfox1	APN	16	7,124,307 (GRCm39)	missense	possibly damaging	0.78
IGL02633:Rbfox1	APN	16	7,110,078 (GRCm39)	missense	probably damaging	0.99
IGL03037:Rbfox1	APN	16	7,110,147 (GRCm39)	splice site	probably benign
R0006:Rbfox1	UTSW	16	7,148,284 (GRCm39)	missense	probably benign	0.21
R0647:Rbfox1	UTSW	16	7,042,248 (GRCm39)	missense	probably damaging	1.00
R1439:Rbfox1	UTSW	16	7,148,297 (GRCm39)	missense	possibly damaging	0.51
R1656:Rbfox1	UTSW	16	7,124,333 (GRCm39)	splice site	probably benign
R1677:Rbfox1	UTSW	16	7,110,091 (GRCm39)	missense	possibly damaging	0.92
R2155:Rbfox1	UTSW	16	7,111,946 (GRCm39)	missense	possibly damaging	0.91
R4952:Rbfox1	UTSW	16	7,094,952 (GRCm39)	missense	probably benign	0.00
R4971:Rbfox1	UTSW	16	7,111,952 (GRCm39)	missense	probably damaging	1.00
R5115:Rbfox1	UTSW	16	7,227,636 (GRCm39)	missense	probably damaging	1.00
R5784:Rbfox1	UTSW	16	7,042,203 (GRCm39)	missense	probably damaging	0.96
R6380:Rbfox1	UTSW	16	7,042,214 (GRCm39)	nonsense	probably null
R7102:Rbfox1	UTSW	16	7,187,698 (GRCm39)	missense	probably benign	0.02
R7104:Rbfox1	UTSW	16	7,170,867 (GRCm39)	missense	possibly damaging	0.90
R7218:Rbfox1	UTSW	16	7,111,947 (GRCm39)	missense	probably damaging	1.00
R7348:Rbfox1	UTSW	16	7,225,888 (GRCm39)	nonsense	probably null
R7383:Rbfox1	UTSW	16	6,887,899 (GRCm39)	missense	probably benign	0.17
R7903:Rbfox1	UTSW	16	7,042,375 (GRCm39)	missense	probably benign	0.20
R8161:Rbfox1	UTSW	16	7,094,892 (GRCm39)	missense
R8350:Rbfox1	UTSW	16	7,094,954 (GRCm39)	missense	probably benign	0.17
R8487:Rbfox1	UTSW	16	7,042,319 (GRCm39)	missense	probably damaging	1.00
R8836:Rbfox1	UTSW	16	7,227,605 (GRCm39)	missense	probably benign	0.00
R9253:Rbfox1	UTSW	16	7,111,973 (GRCm39)	missense	probably benign	0.00
R9516:Rbfox1	UTSW	16	7,227,573 (GRCm39)	missense	probably benign	0.01
R9674:Rbfox1	UTSW	16	7,170,885 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TATCCTGCAGTGGAGAGGAG -3'
(R):5'- AGGATTAATGTGGCATTTTAGCTGC -3'

Sequencing Primer
(F):5'- CACGTTTTAGGATGAGGACAACTCC -3'
(R):5'- GCTGTTAGCACAAGAGACAAATTC -3'

Posted On

2015-01-23