Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Srsf4'

372974

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

042449-MU

Accession Numbers

Essential gene?

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

Stock #

R4833 (G1)

Quality Score

218

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,872 (GRCm39)	T153K	possibly damaging	Het
Abca5	A	C	11: 110,170,142 (GRCm39)	Y1318D	probably benign	Het
Adam18	A	G	8: 25,164,117 (GRCm39)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,708,963 (GRCm39)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,032,296 (GRCm39)		probably null	Het
Bdkrb2	T	C	12: 105,557,917 (GRCm39)	W53R	probably benign	Het
Blm	T	A	7: 80,116,574 (GRCm39)	I1111L	probably benign	Het
Bltp1	A	G	3: 37,019,117 (GRCm39)	I2007V	probably damaging	Het
Bmp3	T	G	5: 99,003,066 (GRCm39)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,220,817 (GRCm39)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,486,183 (GRCm39)	T560M	probably benign	Het
Cimap1a	T	C	7: 140,428,191 (GRCm39)	M1T	probably null	Het
Cmtm8	C	A	9: 114,625,233 (GRCm39)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm39)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,507,323 (GRCm39)	V252E	unknown	Het
Col6a4	A	T	9: 105,949,178 (GRCm39)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm39)	S372P	probably benign	Het
Daam2	A	T	17: 49,797,173 (GRCm39)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,755,576 (GRCm39)	D216G	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,364,636 (GRCm39)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 33,380,505 (GRCm39)		noncoding transcript	Het
Gnb1	A	G	4: 155,627,524 (GRCm39)	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,544,980 (GRCm39)	A204V	probably null	Het
Hnrnpu	T	C	1: 178,161,459 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,009,569 (GRCm39)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,775,889 (GRCm39)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,551,572 (GRCm39)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Lipt1	T	G	1: 37,914,610 (GRCm39)	L222R	probably damaging	Het
Lrrc41	A	G	4: 115,950,374 (GRCm39)		probably benign	Het
Lrrc59	T	C	11: 94,525,498 (GRCm39)	V98A	probably benign	Het
Mast4	A	G	13: 102,910,692 (GRCm39)		probably null	Het
Mdc1	C	T	17: 36,161,286 (GRCm39)	S733F	probably benign	Het
Mknk1	C	T	4: 115,735,383 (GRCm39)		probably benign	Het
Mtmr7	A	G	8: 41,043,505 (GRCm39)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,778,428 (GRCm39)	D1G	possibly damaging	Het
Or7c70	T	G	10: 78,683,409 (GRCm39)	L113F	probably damaging	Het
Phkb	T	A	8: 86,628,540 (GRCm39)	V183E	probably damaging	Het
Pola2	T	C	19: 6,003,892 (GRCm39)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,778,552 (GRCm39)	V412I	probably benign	Het
Psmc4	C	A	7: 27,746,937 (GRCm39)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,578,586 (GRCm39)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,355,311 (GRCm39)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,781,859 (GRCm39)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,253,399 (GRCm39)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,399,310 (GRCm39)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Slfn14	A	G	11: 83,169,982 (GRCm39)	L554P	probably damaging	Het
Spink2	G	T	5: 77,353,239 (GRCm39)	D83E	possibly damaging	Het
Taar8b	A	T	10: 23,968,030 (GRCm39)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,968,918 (GRCm39)	E35G	probably benign	Het
Tmc5	C	A	7: 118,228,052 (GRCm39)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem72	T	C	6: 116,675,319 (GRCm39)	T58A	probably benign	Het
Ttc7	C	T	17: 87,641,749 (GRCm39)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,868,722 (GRCm39)	E449G	probably benign	Het
Ubr4	C	A	4: 139,129,857 (GRCm39)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,704,372 (GRCm39)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,129,878 (GRCm39)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,007,811 (GRCm39)	H247L	probably damaging	Het
Zfp526	C	T	7: 24,925,295 (GRCm39)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,296,992 (GRCm39)	H47Q	probably benign	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
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

2016-03-01