Mutagenetix > Incidental Mutation

Incidental Mutation 'R5725:Srsf4'

452428

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

043343-MU

Accession Numbers

Essential gene?

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

Stock #

R5725 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131600928-131629017 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 131628262 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: P452Q

SMART Domains

Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: P452Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,240,093 (GRCm39)	R1301H	probably benign	Het
6030468B19Rik	G	T	11: 117,696,883 (GRCm39)	S201I	probably damaging	Het
Abca13	G	A	11: 9,527,181 (GRCm39)	M4531I	probably benign	Het
Abca2	A	G	2: 25,329,412 (GRCm39)	M1058V	probably damaging	Het
Agrn	T	A	4: 156,258,332 (GRCm39)	T938S	probably benign	Het
Aloxe3	A	T	11: 69,019,480 (GRCm39)	D131V	probably null	Het
Angptl7	C	A	4: 148,580,965 (GRCm39)	A277S	possibly damaging	Het
Ap5z1	T	C	5: 142,454,731 (GRCm39)	M244T	probably damaging	Het
Aplp2	T	C	9: 31,069,110 (GRCm39)	D573G	probably damaging	Het
Arid5a	G	T	1: 36,358,211 (GRCm39)	E176*	probably null	Het
Atp8b4	A	T	2: 126,275,856 (GRCm39)	N125K	probably benign	Het
Auts2	A	G	5: 131,468,584 (GRCm39)	V911A	probably benign	Het
Bahcc1	G	A	11: 120,165,714 (GRCm39)	R990H	probably benign	Het
Cd84	T	C	1: 171,700,928 (GRCm39)	F230L	probably benign	Het
Dtnb	T	A	12: 3,823,566 (GRCm39)	L584H	probably damaging	Het
Dync2h1	A	C	9: 7,169,528 (GRCm39)	S316R	probably benign	Het
Eif3m	A	G	2: 104,844,186 (GRCm39)	I73T	probably damaging	Het
Emilin3	A	T	2: 160,750,410 (GRCm39)	C399*	probably null	Het
Fam118a	A	G	15: 84,929,822 (GRCm39)	K17E	probably damaging	Het
Fat4	A	G	3: 38,943,774 (GRCm39)	N889S	probably damaging	Het
Hmcn2	G	A	2: 31,273,827 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Itgax	A	G	7: 127,747,033 (GRCm39)	T945A	possibly damaging	Het
Itsn2	T	A	12: 4,680,767 (GRCm39)		probably benign	Het
Kcna4	A	G	2: 107,127,221 (GRCm39)	T652A	possibly damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrp4	A	G	2: 91,325,240 (GRCm39)	Y1355C	probably damaging	Het
Mmp9	C	A	2: 164,791,256 (GRCm39)	A142E	possibly damaging	Het
Mpeg1	T	C	19: 12,440,000 (GRCm39)	V486A	probably benign	Het
Mrgprb3	A	T	7: 48,293,548 (GRCm39)	M1K	probably null	Het
Mrtfb	A	T	16: 13,202,174 (GRCm39)	K146*	probably null	Het
Nacad	T	C	11: 6,551,643 (GRCm39)	E516G	probably benign	Het
Or5k15	G	A	16: 58,710,250 (GRCm39)	T111I	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pappa	T	A	4: 65,107,647 (GRCm39)	V686E	probably damaging	Het
Polr3a	A	T	14: 24,515,455 (GRCm39)		probably null	Het
Ppp1r3a	A	G	6: 14,719,348 (GRCm39)	V522A	probably benign	Het
Rab6b	T	A	9: 103,041,061 (GRCm39)	F152I	probably damaging	Het
Sacs	G	A	14: 61,448,559 (GRCm39)	R3535Q	probably damaging	Het
Septin14	T	C	5: 129,766,630 (GRCm39)	D317G	probably damaging	Het
Sin3b	T	C	8: 73,452,320 (GRCm39)		probably null	Het
Sis	G	A	3: 72,872,931 (GRCm39)	P69L	probably damaging	Het
Slc12a3	G	T	8: 95,057,074 (GRCm39)	V116L	probably benign	Het
Slc16a12	A	T	19: 34,652,227 (GRCm39)	F306L	probably damaging	Het
Slc39a12	T	C	2: 14,394,075 (GRCm39)		probably benign	Het
Smg6	A	G	11: 74,821,439 (GRCm39)	Q570R	probably benign	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trav19	A	C	14: 54,082,999 (GRCm39)	T25P	possibly damaging	Het
Trim3	A	G	7: 105,266,947 (GRCm39)		probably null	Het
Ugt2a2	T	C	5: 87,622,755 (GRCm39)	N281S	probably damaging	Het
Vmn1r12	A	G	6: 57,136,694 (GRCm39)	I264V	probably benign	Het
Vmn2r94	T	A	17: 18,476,489 (GRCm39)	I403F	possibly damaging	Het
Zzef1	G	A	11: 72,746,308 (GRCm39)	R870Q	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
R4035: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
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'- GCAAAGTCAGTAGCAGCAGC -3'
(R):5'- GACGGGTGTTCTACTTCACTC -3'

Sequencing Primer
(F):5'- TCAGTAGCAGCAGCAGCAAG -3'
(R):5'- TGTGCTACGGCTACCAACATG -3'

Posted On

2017-01-03