Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Srsf4'

314024

Institutional Source

Beutler Lab

Gene Symbol

Srsf4

Ensembl Gene

ENSMUSG00000028911

Gene Name

serine and arginine-rich splicing factor 4

Synonyms

5730499P16Rik, SRp75, MNCb-2616, Sfrs4

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R4049 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

131600928-131629017 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 131627854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053819] [ENSMUST00000134943]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030743

SMART Domains

Protein: ENSMUSP00000030743
Gene: ENSMUSG00000028911

Domain	Start	End	E-Value	Type
RRM	14	73	1.09e0	SMART
low complexity region	76	102	N/A	INTRINSIC
RRM	110	178	2e-14	SMART
low complexity region	184	277	N/A	INTRINSIC
low complexity region	304	328	N/A	INTRINSIC
low complexity region	329	408	N/A	INTRINSIC
low complexity region	460	496	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000053819
AA Change: V316A

SMART Domains

Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: V316A

Domain	Start	End	E-Value	Type
RRM	3	68	4.3e-21	SMART
low complexity region	71	97	N/A	INTRINSIC
RRM	105	173	8.4e-17	SMART
low complexity region	179	272	N/A	INTRINSIC
low complexity region	299	323	N/A	INTRINSIC
low complexity region	324	403	N/A	INTRINSIC
low complexity region	455	490	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124738

Predicted Effect

probably benign
Transcript: ENSMUST00000134943

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

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. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably damaging	Het

Other mutations in Srsf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0087:Srsf4	UTSW	4	131,627,641 (GRCm39)	unclassified	probably benign
R1135:Srsf4	UTSW	4	131,627,380 (GRCm39)	unclassified	probably benign
R1209:Srsf4	UTSW	4	131,628,370 (GRCm39)	unclassified	probably benign
R1276:Srsf4	UTSW	4	131,624,996 (GRCm39)	missense	probably damaging	1.00
R1561:Srsf4	UTSW	4	131,625,006 (GRCm39)	missense	probably damaging	1.00
R1574:Srsf4	UTSW	4	131,625,006 (GRCm39)	missense	probably damaging	1.00
R1700:Srsf4	UTSW	4	131,627,871 (GRCm39)	unclassified	probably benign
R2265:Srsf4	UTSW	4	131,624,993 (GRCm39)	missense	probably damaging	1.00
R2269:Srsf4	UTSW	4	131,624,993 (GRCm39)	missense	probably damaging	1.00
R3723:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R3724:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R3737:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R3738:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R3739:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R4034:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R4035:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R4535:Srsf4	UTSW	4	131,601,175 (GRCm39)	missense	probably damaging	1.00
R4810:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R4833:Srsf4	UTSW	4	131,627,413 (GRCm39)	unclassified	probably benign
R4932:Srsf4	UTSW	4	131,618,556 (GRCm39)	missense	probably damaging	0.99
R5291:Srsf4	UTSW	4	131,613,617 (GRCm39)	critical splice donor site	probably benign
R5725:Srsf4	UTSW	4	131,628,262 (GRCm39)	unclassified	probably benign
R6145:Srsf4	UTSW	4	131,627,605 (GRCm39)	unclassified	probably benign
R7056:Srsf4	UTSW	4	131,628,004 (GRCm39)	unclassified	probably benign
R7294:Srsf4	UTSW	4	131,627,772 (GRCm39)	missense	unknown
R7964:Srsf4	UTSW	4	131,618,544 (GRCm39)	missense	probably benign	0.09
R8697:Srsf4	UTSW	4	131,628,042 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTCTTCCAGGTCAGGTTCC -3'
(R):5'- TGCTGCTGCTACTGACTTTG -3'

Sequencing Primer
(F):5'- AGGTCAGGTTCCCACTCC -3'
(R):5'- GCTGCTACTGACTTTGCTGTC -3'

Posted On

2015-04-30