Mutagenetix > Incidental Mutation

Incidental Mutation 'R6298:Srsf7'

508940

Institutional Source

Beutler Lab

Gene Symbol

Srsf7

Ensembl Gene

ENSMUSG00000024097

Gene Name

serine and arginine-rich splicing factor 7

Synonyms

9G8, NX-96, Sfrs7, 9430065L19Rik

MMRRC Submission

044408-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6298 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

80507509-80514734 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 80514682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063417] [ENSMUST00000134652]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000063417

SMART Domains

Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097

Domain	Start	End	E-Value	Type
RRM	12	80	1.66e-20	SMART
ZnF_C2HC	105	121	1.77e-2	SMART
low complexity region	192	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134652

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196

Domain	Start	End	E-Value	Type
Pfam:DUF3808	69	522	7.2e-150	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Five transcript variants, four of them protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,833 (GRCm39)	M733L	probably benign	Het
Acss3	G	A	10: 106,920,717 (GRCm39)	P131L	probably damaging	Het
Adgrv1	T	A	13: 81,539,886 (GRCm39)	I5678F	probably benign	Het
Aff1	C	T	5: 103,902,586 (GRCm39)	L6F	possibly damaging	Het
Ank3	G	T	10: 69,686,006 (GRCm39)	R273L	probably damaging	Het
Anks1b	G	A	10: 90,516,699 (GRCm39)	G898D	probably damaging	Het
Anxa11	C	T	14: 25,873,158 (GRCm39)	P131S	unknown	Het
Ap4e1	T	A	2: 126,889,035 (GRCm39)	M500K	probably benign	Het
Bag3	T	C	7: 128,141,922 (GRCm39)	S138P	probably damaging	Het
Capn9	T	C	8: 125,344,193 (GRCm39)	V670A	probably benign	Het
Ccne2	T	A	4: 11,199,306 (GRCm39)	W236R	probably damaging	Het
Cdh23	A	T	10: 60,262,451 (GRCm39)	Y702*	probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cit	A	T	5: 116,086,124 (GRCm39)	E896V	probably damaging	Het
Cntln	T	A	4: 85,014,998 (GRCm39)	N1096K	probably damaging	Het
Cntnap5c	T	C	17: 58,411,747 (GRCm39)	C544R	probably damaging	Het
Csf1	A	T	3: 107,655,675 (GRCm39)	L452Q	possibly damaging	Het
Cts8	T	A	13: 61,397,037 (GRCm39)	K294N	possibly damaging	Het
Dcakd	T	G	11: 102,890,618 (GRCm39)	E56D	possibly damaging	Het
Dnah17	T	C	11: 117,998,987 (GRCm39)	I929V	probably benign	Het
Dnah2	G	T	11: 69,382,467 (GRCm39)	H1214Q	probably benign	Het
Dock9	T	C	14: 121,872,006 (GRCm39)	D536G	probably damaging	Het
Drc3	A	G	11: 60,284,596 (GRCm39)	N467S	possibly damaging	Het
Dysf	A	G	6: 84,084,118 (GRCm39)		probably null	Het
Ecpas	T	G	4: 58,877,157 (GRCm39)	T93P	probably damaging	Het
Evpl	A	T	11: 116,121,748 (GRCm39)	L378Q	probably damaging	Het
Fer1l4	A	T	2: 155,866,660 (GRCm39)	H1520Q	probably damaging	Het
Fhod1	A	T	8: 106,063,780 (GRCm39)		probably benign	Het
Gabra1	T	A	11: 42,073,205 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm14137	A	G	2: 119,005,572 (GRCm39)	T44A	possibly damaging	Het
H2bl1	T	A	13: 99,120,974 (GRCm39)	R17S	probably benign	Het
Herc2	T	C	7: 55,841,013 (GRCm39)	M3444T	probably benign	Het
Igsf5	T	C	16: 96,197,648 (GRCm39)	S208P	possibly damaging	Het
Ino80b	A	G	6: 83,102,066 (GRCm39)	L12P	possibly damaging	Het
Insrr	A	G	3: 87,720,272 (GRCm39)	D970G	probably damaging	Het
Iqcf4	G	A	9: 106,445,874 (GRCm39)	A91V	probably benign	Het
Itga10	A	G	3: 96,564,078 (GRCm39)	T911A	probably benign	Het
Katnip	T	C	7: 125,469,869 (GRCm39)	V1446A	probably benign	Het
Klhl30	A	T	1: 91,285,086 (GRCm39)	D314V	probably benign	Het
Lpcat1	T	C	13: 73,659,074 (GRCm39)	V330A	possibly damaging	Het
Myef2l	T	C	3: 10,154,239 (GRCm39)	I336T	probably damaging	Het
Nhlrc3	A	T	3: 53,359,944 (GRCm39)	D306E	possibly damaging	Het
Notum	T	A	11: 120,548,766 (GRCm39)	I187F	probably damaging	Het
Nphp3	T	C	9: 103,892,640 (GRCm39)	L288P	probably damaging	Het
Ntrk2	G	T	13: 59,019,570 (GRCm39)	E394*	probably null	Het
Or6k2	T	A	1: 173,979,748 (GRCm39)	V222D	probably benign	Het
Pbld2	A	G	10: 62,874,931 (GRCm39)	K63E	probably benign	Het
Phc2	T	C	4: 128,641,982 (GRCm39)	M768T	possibly damaging	Het
Pik3c2g	G	A	6: 139,603,561 (GRCm39)	C249Y	probably damaging	Het
Plod1	G	A	4: 148,000,772 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,172,772 (GRCm39)	T9S	probably benign	Het
Pnrc1	T	A	4: 33,246,315 (GRCm39)	M215L	probably benign	Het
Prcp	G	T	7: 92,577,841 (GRCm39)	C370F	probably damaging	Het
Pter	A	G	2: 12,983,205 (GRCm39)	N70S	probably damaging	Het
Ptprt	G	T	2: 161,395,779 (GRCm39)	H1131Q	probably damaging	Het
Rasal2	T	C	1: 157,239,432 (GRCm39)	D8G	possibly damaging	Het
Rcn2	A	C	9: 55,960,209 (GRCm39)	K159Q	probably benign	Het
Rex2	T	A	4: 147,141,972 (GRCm39)	C153*	probably null	Het
Rps6ka2	T	C	17: 7,437,766 (GRCm39)	F8S	possibly damaging	Het
Samd9l	A	G	6: 3,375,383 (GRCm39)	L626S	probably damaging	Het
Sptb	A	G	12: 76,667,428 (GRCm39)		probably null	Het
Srgap3	A	T	6: 112,793,571 (GRCm39)	V135D	probably damaging	Het
Tacc2	A	G	7: 130,228,255 (GRCm39)	T1647A	probably benign	Het
Thap12	G	T	7: 98,352,612 (GRCm39)	A6S	probably damaging	Het
Tmem33	T	A	5: 67,425,894 (GRCm39)	L146*	probably null	Het
Trip13	C	A	13: 74,084,378 (GRCm39)	E36*	probably null	Het
Vkorc1l1	T	A	5: 129,971,079 (GRCm39)	C23S	probably damaging	Het
Vmn1r20	G	A	6: 57,409,112 (GRCm39)	R146H	probably benign	Het
Vmn1r222	T	A	13: 23,416,965 (GRCm39)	I83F	probably benign	Het
Vmn2r107	A	T	17: 20,576,044 (GRCm39)	I125F	probably benign	Het
Vmn2r116	A	G	17: 23,605,736 (GRCm39)	D216G	probably damaging	Het
Vwa3a	C	T	7: 120,394,874 (GRCm39)	T898I	probably benign	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Wdhd1	T	C	14: 47,510,579 (GRCm39)	D148G	possibly damaging	Het
Xylt1	T	C	7: 117,255,960 (GRCm39)	I844T	probably damaging	Het
Zfp106	A	T	2: 120,353,185 (GRCm39)	V1535D	probably damaging	Het
Zfp385b	A	T	2: 77,244,323 (GRCm39)	L315Q	possibly damaging	Het
Zfp458	T	A	13: 67,404,870 (GRCm39)	H523L	probably damaging	Het
Zfp712	T	C	13: 67,189,393 (GRCm39)	H378R	probably damaging	Het
Zic1	T	C	9: 91,246,556 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Srsf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Srsf7	APN	17	80,510,121 (GRCm39)	missense	probably null
IGL02544:Srsf7	APN	17	80,511,620 (GRCm39)	unclassified	probably benign
R1036:Srsf7	UTSW	17	80,513,266 (GRCm39)	unclassified	probably benign
R3014:Srsf7	UTSW	17	80,508,990 (GRCm39)	missense	unknown
R6004:Srsf7	UTSW	17	80,513,282 (GRCm39)	missense	probably damaging	1.00
R6551:Srsf7	UTSW	17	80,511,648 (GRCm39)	unclassified	probably benign
R7683:Srsf7	UTSW	17	80,514,703 (GRCm39)	unclassified	probably benign
R8373:Srsf7	UTSW	17	80,512,815 (GRCm39)	missense	probably benign	0.05

Predicted Primers

Posted On

2018-04-02