Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Srsf4'

368285

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

041613-MU

Accession Numbers

Essential gene?

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

Stock #

R4035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131600928-131629017 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 131627413 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: R207W

SMART Domains

Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: R207W

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

0.1502

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,879 (GRCm39)	F34L	probably benign	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ano5	A	G	7: 51,216,233 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,808,754 (GRCm39)	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,835,541 (GRCm39)	T52A	probably benign	Het
Coro2b	A	G	9: 62,333,071 (GRCm39)		probably benign	Het
Ctcf	A	T	8: 106,390,789 (GRCm39)	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Cxcl2	A	T	5: 91,052,272 (GRCm39)	Q87L	possibly damaging	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Etfdh	C	T	3: 79,521,018 (GRCm39)	V294I	probably benign	Het
Fnip2	C	T	3: 79,386,808 (GRCm39)	V973I	probably benign	Het
Fyco1	T	C	9: 123,630,348 (GRCm39)	T1286A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gsdme	A	T	6: 50,206,428 (GRCm39)	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Henmt1	T	C	3: 108,866,001 (GRCm39)	V199A	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Krba1	A	G	6: 48,388,614 (GRCm39)	N538D	probably damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ndst4	C	T	3: 125,232,385 (GRCm39)	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,069,797 (GRCm39)		probably benign	Het
Or6d12	A	G	6: 116,493,590 (GRCm39)	N284S	possibly damaging	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,898,334 (GRCm39)	K97E	probably damaging	Het
Pramel26	T	A	4: 143,537,026 (GRCm39)	D435V	probably benign	Het
Prpsap1	A	T	11: 116,363,834 (GRCm39)	M263K	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rttn	T	C	18: 89,013,777 (GRCm39)	V482A	probably benign	Het
Samsn1	A	G	16: 75,706,073 (GRCm39)	M1T	probably null	Het
Scel	A	G	14: 103,767,440 (GRCm39)	N33S	probably damaging	Het
Sema4g	A	T	19: 44,989,853 (GRCm39)	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,851,234 (GRCm39)	T752M	probably damaging	Het
Snx27	T	C	3: 94,431,551 (GRCm39)	D281G	probably damaging	Het
Spesp1	T	A	9: 62,180,318 (GRCm39)	I197L	probably benign	Het
Tpgs1	A	G	10: 79,505,199 (GRCm39)		probably null	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ttn	T	G	2: 76,740,165 (GRCm39)	Q3458P	probably benign	Het
Ube2z	A	G	11: 95,951,893 (GRCm39)	F152L	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp267	T	G	3: 36,218,989 (GRCm39)	H337Q	possibly 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
R4049:Srsf4	UTSW	4	131,627,854 (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'- CAAACCCCTTACAGGCAATTTAAATTG -3'
(R):5'- GTCCTCGGCGTGGTCTTTAC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGGGCTCAAGAAGTCG -3'
(R):5'- ACTGCGGCTCTTGTCAGG -3'

Posted On

2016-01-19