Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Srsf4'

244065

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

040265-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131600928-131629017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131624993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Ref Sequence

ENSEMBL: ENSMUSP00000061474 (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

probably damaging
Transcript: ENSMUST00000053819
AA Change: V130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061474
Gene: ENSMUSG00000028911
AA Change: V130A

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: ENSMUST00000124738

Predicted Effect

probably benign
Transcript: ENSMUST00000134943

Meta Mutation Damage Score

0.9362

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	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
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
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'- AGGTCGCCATCTTTATCCAG -3'
(R):5'- ACTCCGGCTTCTGGAGTAAGAC -3'

Sequencing Primer
(F):5'- AGCTGCACTTCCCACGTCTG -3'
(R):5'- TTCTGGAGTAAGACCGGCG -3'

Posted On

2014-10-16