Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Rbfox1'

660247

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

067868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8350 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5703219-7229390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7094954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 111 (S111R)

Ref Sequence

ENSEMBL: ENSMUSP00000155321 (fasta)

Gene Model

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

AlphaFold

Q9JJ43

Predicted Effect

probably benign
Transcript: ENSMUST00000056416
AA Change: S111R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: S111R

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: S111R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: S111R

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: S131R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000230658
AA Change: S111R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000231088
AA Change: S91R

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000231194
AA Change: S111R

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	T	5: 8,978,578 (GRCm39)		probably null	Het
Adam29	A	G	8: 56,325,224 (GRCm39)	V410A	possibly damaging	Het
Adamts3	T	C	5: 89,850,815 (GRCm39)	T575A	probably damaging	Het
Ankmy1	T	C	1: 92,804,353 (GRCm39)	K877E	possibly damaging	Het
Arpin	A	T	7: 79,581,615 (GRCm39)	I35N	possibly damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcas1	T	C	2: 170,248,220 (GRCm39)	N234D	possibly damaging	Het
Clca3a2	C	T	3: 144,783,668 (GRCm39)	G649E	probably benign	Het
Cnot2	A	T	10: 116,322,181 (GRCm39)	L516Q	probably damaging	Het
Ctdp1	C	A	18: 80,512,494 (GRCm39)	V90L	probably benign	Het
Cyb5b	A	G	8: 107,896,552 (GRCm39)	Y91C	possibly damaging	Het
Cystm1	T	C	18: 36,526,303 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,327,231 (GRCm39)	Q727K	probably damaging	Het
Dpf3	G	A	12: 83,397,625 (GRCm39)	R80C	probably damaging	Het
Ehmt2	C	T	17: 35,127,667 (GRCm39)	T882M	probably damaging	Het
Fam136a	A	G	6: 86,345,795 (GRCm39)	K104R	probably benign	Het
Fcgbp	T	C	7: 27,793,614 (GRCm39)	V1172A	probably benign	Het
Foxc1	C	T	13: 31,991,548 (GRCm39)	Q120*	probably null	Het
Grin1	G	A	2: 25,188,323 (GRCm39)	R448C	probably damaging	Het
Igsf10	G	A	3: 59,238,949 (GRCm39)	P411S	probably damaging	Het
Irgq	T	A	7: 24,233,165 (GRCm39)	D335E	probably benign	Het
Kndc1	A	G	7: 139,503,960 (GRCm39)	Y1088C	probably damaging	Het
Llgl1	A	G	11: 60,602,947 (GRCm39)	E874G	probably damaging	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Lyst	T	A	13: 13,824,973 (GRCm39)	C1529*	probably null	Het
Mau2	A	T	8: 70,495,242 (GRCm39)	Y32N	probably damaging	Het
Mios	T	A	6: 8,227,998 (GRCm39)	N638K	probably benign	Het
Mki67	A	T	7: 135,300,200 (GRCm39)	D1611E	possibly damaging	Het
Mroh2a	G	A	1: 88,171,805 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,603,688 (GRCm39)	V138A	probably damaging	Het
Opcml	A	T	9: 28,813,463 (GRCm39)	E251D	probably benign	Het
Or13c7e-ps1	T	A	4: 43,782,175 (GRCm39)	I52F	probably benign	Het
Or1j14	T	A	2: 36,418,176 (GRCm39)	Y251N	probably damaging	Het
Or1o1	A	T	17: 37,717,260 (GRCm39)	M274L	probably benign	Het
Pde1b	A	T	15: 103,411,901 (GRCm39)	M1L	probably benign	Het
Pias1	G	A	9: 62,859,266 (GRCm39)	H72Y	probably damaging	Het
Postn	G	A	3: 54,277,679 (GRCm39)	V225I	probably damaging	Het
Prickle2	A	G	6: 92,353,483 (GRCm39)	V661A	probably benign	Het
Ptpn1	T	A	2: 167,816,161 (GRCm39)	F225Y	probably damaging	Het
Ptprd	C	T	4: 75,868,898 (GRCm39)	V1425M	probably damaging	Het
Rbm24	T	C	13: 46,572,676 (GRCm39)		probably null	Het
Rlf	T	G	4: 121,027,954 (GRCm39)	K224T	probably damaging	Het
Scgb2b3	G	A	7: 31,061,485 (GRCm39)	L5F	probably damaging	Het
Sdr42e2	T	C	7: 120,419,873 (GRCm39)	L206P	probably damaging	Het
Serpinb9g	A	G	13: 33,676,854 (GRCm39)	E212G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,146 (GRCm39)	Y524C	probably damaging	Het
Sh3pxd2a	C	A	19: 47,258,277 (GRCm39)	E475D	probably null	Het
Skil	A	G	3: 31,151,603 (GRCm39)	T42A	probably benign	Het
Sorcs2	A	G	5: 36,311,207 (GRCm39)	V203A	probably damaging	Het
Sugp2	C	T	8: 70,695,641 (GRCm39)	R205*	probably null	Het
Tle1	C	A	4: 72,057,203 (GRCm39)		probably benign	Het
Tmem63c	T	A	12: 87,119,660 (GRCm39)	L318Q	probably damaging	Het
Txnrd1	A	G	10: 82,717,759 (GRCm39)	I248V	probably benign	Het
Vmn2r79	T	A	7: 86,686,741 (GRCm39)	C707*	probably null	Het
Xdh	C	T	17: 74,241,837 (GRCm39)	G154D	probably damaging	Het
Xirp2	T	A	2: 67,355,713 (GRCm39)	D3491E	probably benign	Het
Yjefn3	A	G	8: 70,341,869 (GRCm39)	L77P	probably damaging	Het
Zer1	C	T	2: 29,991,862 (GRCm39)	E653K	probably damaging	Het
Zfyve27	T	C	19: 42,167,911 (GRCm39)	V151A	probably benign	Het
Zim1	T	A	7: 6,685,064 (GRCm39)	S129C	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
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
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
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'- ATAGCATCCTGCCATGTGGAG -3'
(R):5'- CCCATAGACCCAGGTATTAGATG -3'

Sequencing Primer
(F):5'- CATCCTGCCATGTGGAGGAAGG -3'
(R):5'- CCCAGGTATTAGATGCTAAAATGCC -3'

Posted On

2021-01-18