Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Rbfox1'

384473

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

042566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5703219-7229390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7111952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 173 (R173C)

Ref Sequence

ENSEMBL: ENSMUSP00000155799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]

AlphaFold

Q9JJ43

Predicted Effect

probably damaging
Transcript: ENSMUST00000056416
AA Change: R193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: R193C

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 damaging
Transcript: ENSMUST00000115841
AA Change: R193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: R193C

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 damaging
Transcript: ENSMUST00000229741
AA Change: R213C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230658
AA Change: R193C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231088
AA Change: R173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231194
AA Change: R193C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Gzmc	G	T	14: 56,469,826 (GRCm39)	P158Q	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Or4c107	A	T	2: 88,788,863 (GRCm39)	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Prdx1	T	C	4: 116,549,128 (GRCm39)		probably null	Het
Rbp3	T	A	14: 33,676,427 (GRCm39)	V125D	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zfp456	T	C	13: 67,514,995 (GRCm39)	E237G	probably benign	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	possibly 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
R3236:Rbfox1	UTSW	16	7,225,892 (GRCm39)	missense	possibly damaging	0.94
R4952:Rbfox1	UTSW	16	7,094,952 (GRCm39)	missense	probably benign	0.00
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'- GCATCTATTGCCATTTGTAAATTGAA -3'
(R):5'- TCAGCAATGAGACAGTAGGTATGGA -3'

Sequencing Primer
(F):5'- CAACAGTCATAATGCATGCA -3'
(R):5'- TGGGTTCTTCAAGACCACAG -3'

Posted On

2016-04-27