Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Rbfox1'

657814

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

067930-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5703219-7229390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7042319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 58 (V58I)

Ref Sequence

ENSEMBL: ENSMUSP00000155069 (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: V58I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658
AA Change: V58I

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: V58I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658
AA Change: V58I

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: V78I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230658
AA Change: V58I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231088
AA Change: V38I

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231194
AA Change: V58I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,565,122 (GRCm39)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,886,116 (GRCm39)	S354A	probably benign	Het
Bcan	T	C	3: 87,896,516 (GRCm39)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,747,692 (GRCm39)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,970,419 (GRCm39)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,886,808 (GRCm39)	K267*	probably null	Het
Ccdc47	C	A	11: 106,092,971 (GRCm39)	V92L	possibly damaging	Het
Cyp2c54	A	T	19: 40,059,990 (GRCm39)	I181N	probably damaging	Het
Ddx60	A	T	8: 62,427,184 (GRCm39)	D753V	probably damaging	Het
Dlg2	A	T	7: 91,935,796 (GRCm39)	K641N	probably damaging	Het
Eloa	G	A	4: 135,736,668 (GRCm39)	R527C	probably benign	Het
Fancd2	C	T	6: 113,545,187 (GRCm39)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,227,846 (GRCm39)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,153,462 (GRCm39)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,233,876 (GRCm39)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,268,508 (GRCm39)		probably null	Het
Hspa1a	T	A	17: 35,191,033 (GRCm39)		probably benign	Het
Ifi204	G	A	1: 173,587,839 (GRCm39)	P107S	probably damaging	Het
Kif6	A	G	17: 49,978,164 (GRCm39)	I119V	probably damaging	Het
Lmntd2	G	A	7: 140,790,427 (GRCm39)	H554Y	probably benign	Het
Lrrc8e	C	A	8: 4,284,218 (GRCm39)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,050,914 (GRCm39)	N613D	probably damaging	Het
Map4k4	C	T	1: 40,028,136 (GRCm39)	T319M	probably damaging	Het
Mbtps1	C	T	8: 120,268,413 (GRCm39)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,450,042 (GRCm39)	C330F	probably damaging	Het
Mok	A	G	12: 110,776,341 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,577,321 (GRCm39)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,020,983 (GRCm39)	V490A	probably benign	Het
Nsf	A	T	11: 103,819,584 (GRCm39)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,586,696 (GRCm39)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,061,647 (GRCm39)	S26G	probably benign	Het
Or4a47	T	C	2: 89,665,609 (GRCm39)	N227D	probably benign	Het
Or5p73	G	T	7: 108,064,784 (GRCm39)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,461,114 (GRCm39)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,206,968 (GRCm39)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,900,631 (GRCm39)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,864,909 (GRCm39)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,800,824 (GRCm39)	T173A	probably benign	Het
Pramel6	C	T	2: 87,339,045 (GRCm39)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,230,463 (GRCm39)	I1034N	probably damaging	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rev3l	T	A	10: 39,682,844 (GRCm39)	S321T	probably damaging	Het
Ryr1	T	C	7: 28,740,292 (GRCm39)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,617,502 (GRCm39)	Y58*	probably null	Het
Sgms1	C	A	19: 32,102,697 (GRCm39)	V337L	probably benign	Het
Slc38a2	G	A	15: 96,593,172 (GRCm39)	Q136*	probably null	Het
Smarcd1	T	A	15: 99,605,657 (GRCm39)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,674,822 (GRCm39)	H866P	probably damaging	Het
Spcs1	T	A	14: 30,722,721 (GRCm39)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,688,033 (GRCm39)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,576,790 (GRCm39)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,376,869 (GRCm39)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,453,655 (GRCm39)	N134K	probably benign	Het
Topaz1	A	G	9: 122,579,001 (GRCm39)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,316,192 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,166 (GRCm39)	M240L	probably benign	Het
Vmn1r77	T	A	7: 11,775,514 (GRCm39)	S29T	probably damaging	Het
Vps13d	A	G	4: 144,881,817 (GRCm39)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,580,895 (GRCm39)	R73*	probably null	Het
Zfp446	T	A	7: 12,716,555 (GRCm39)	F334I	possibly damaging	Het
Zfp654	A	T	16: 64,606,011 (GRCm39)	Y730*	probably null	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
R8350:Rbfox1	UTSW	16	7,094,954 (GRCm39)	missense	probably benign	0.17
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'- GGGGCTCAGTTCCTGTAATG -3'
(R):5'- TAAGTTCCAGGCTTAAGGGC -3'

Sequencing Primer
(F):5'- GGAGCTCTAATGGTGTTCTCTTCC -3'
(R):5'- CTTAAGGGCCAGGGCAC -3'

Posted On

2021-01-18