Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Srsf5'

26457

Institutional Source

Beutler Lab

Gene Symbol

Srsf5

Ensembl Gene

ENSMUSG00000021134

Gene Name

serine and arginine-rich splicing factor 5

Synonyms

Sfrs5

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80992308-80997277 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80994298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 76 (S76P)

Ref Sequence

ENSEMBL: ENSMUSP00000105985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094693] [ENSMUST00000110351] [ENSMUST00000110352] [ENSMUST00000110354] [ENSMUST00000110356] [ENSMUST00000138434]

AlphaFold

O35326

Predicted Effect

probably benign
Transcript: ENSMUST00000094693
AA Change: S76P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134
AA Change: S76P

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110351
AA Change: S76P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134
AA Change: S76P

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110352
AA Change: S76P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134
AA Change: S76P

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110354
AA Change: S76P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134
AA Change: S76P

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	231	N/A	INTRINSIC
low complexity region	236	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110356
AA Change: S76P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134
AA Change: S76P

Domain	Start	End	E-Value	Type
RRM	5	70	4.56e-18	SMART
low complexity region	73	105	N/A	INTRINSIC
RRM	109	177	5.58e-13	SMART
low complexity region	180	230	N/A	INTRINSIC
low complexity region	235	267	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219062

Predicted Effect

probably benign
Transcript: ENSMUST00000138434

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het

Other mutations in Srsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Srsf5	APN	12	80,994,608 (GRCm39)	missense	probably damaging	1.00
R0827:Srsf5	UTSW	12	80,996,314 (GRCm39)	missense	probably damaging	1.00
R1552:Srsf5	UTSW	12	80,996,519 (GRCm39)	unclassified	probably benign
R2519:Srsf5	UTSW	12	80,995,870 (GRCm39)	missense	probably damaging	0.99
R4926:Srsf5	UTSW	12	80,994,075 (GRCm39)	utr 3 prime	probably benign
R5505:Srsf5	UTSW	12	80,995,857 (GRCm39)	unclassified	probably benign
R5786:Srsf5	UTSW	12	80,996,311 (GRCm39)	missense	possibly damaging	0.48
R7810:Srsf5	UTSW	12	80,996,720 (GRCm39)	missense	unknown
R8265:Srsf5	UTSW	12	80,994,110 (GRCm39)	missense	possibly damaging	0.95
R8711:Srsf5	UTSW	12	80,994,328 (GRCm39)	missense	possibly damaging	0.81
R8832:Srsf5	UTSW	12	80,996,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGTCCAAAAGCTCTACTCTTACTGC -3'
(R):5'- CTGGGTTCTCAGCATGTGGACTAAC -3'

Sequencing Primer
(F):5'- GCTACATTTTAGGAATTTGAGGACCC -3'
(R):5'- TCTCAGCATGTGGACTAACTAGAC -3'

Posted On

2013-04-16