Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Srsf5'

170032

Institutional Source

Beutler Lab

Gene Symbol

Srsf5

Ensembl Gene

ENSMUSG00000021134

Gene Name

serine and arginine-rich splicing factor 5

Synonyms

Sfrs5

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80992308-80997277 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 80996519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094693] [ENSMUST00000095572] [ENSMUST00000110351] [ENSMUST00000110352] [ENSMUST00000110354] [ENSMUST00000110356] [ENSMUST00000218162] [ENSMUST00000138434]

AlphaFold

O35326

Predicted Effect

unknown
Transcript: ENSMUST00000094693
AA Change: T193A

SMART Domains

Protein: ENSMUSP00000131323
Gene: ENSMUSG00000021134
AA Change: T193A

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: ENSMUST00000095572

SMART Domains

Protein: ENSMUSP00000093229
Gene: ENSMUSG00000021135

Domain	Start	End	E-Value	Type
Pfam:SBF	32	217	3.3e-47	PFAM
transmembrane domain	222	244	N/A	INTRINSIC
transmembrane domain	282	304	N/A	INTRINSIC
low complexity region	323	333	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000110351
AA Change: T194A

SMART Domains

Protein: ENSMUSP00000105980
Gene: ENSMUSG00000021134
AA Change: T194A

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

unknown
Transcript: ENSMUST00000110352
AA Change: T193A

SMART Domains

Protein: ENSMUSP00000105981
Gene: ENSMUSG00000021134
AA Change: T193A

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

unknown
Transcript: ENSMUST00000110354
AA Change: T194A

SMART Domains

Protein: ENSMUSP00000105983
Gene: ENSMUSG00000021134
AA Change: T194A

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

unknown
Transcript: ENSMUST00000110356
AA Change: T193A

SMART Domains

Protein: ENSMUSP00000105985
Gene: ENSMUSG00000021134
AA Change: T193A

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: ENSMUST00000151968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219062

Predicted Effect

probably benign
Transcript: ENSMUST00000218162

Predicted Effect

probably benign
Transcript: ENSMUST00000138434

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	A	16: 20,217,617 (GRCm39)	I365F	probably damaging	Het
Abhd15	T	C	11: 77,406,233 (GRCm39)	L70P	probably damaging	Het
Adam18	A	C	8: 25,136,377 (GRCm39)	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,645,321 (GRCm39)		probably null	Het
Arcn1	C	T	9: 44,670,291 (GRCm39)	A112T	probably damaging	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
Calhm1	C	T	19: 47,129,640 (GRCm39)	R294H	probably benign	Het
Ccdc121rt1	A	G	1: 181,338,556 (GRCm39)	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,615 (GRCm39)	E81G	probably benign	Het
Cep170	T	C	1: 176,610,060 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,786,484 (GRCm39)	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 54,923,192 (GRCm39)	E205D	probably benign	Het
Chst5	T	C	8: 112,616,912 (GRCm39)	D236G	probably damaging	Het
Coro1a	T	C	7: 126,299,124 (GRCm39)	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,373,346 (GRCm39)	I474V	probably benign	Het
Cyth3	G	A	5: 143,683,505 (GRCm39)	V87I	probably benign	Het
Dclk3	C	A	9: 111,317,647 (GRCm39)	T761K	probably damaging	Het
Dvl2	T	A	11: 69,897,198 (GRCm39)	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Exog	T	C	9: 119,274,176 (GRCm39)	S54P	unknown	Het
Fasn	A	G	11: 120,709,384 (GRCm39)	S519P	probably damaging	Het
Gas8	G	A	8: 124,247,385 (GRCm39)	A16T	probably benign	Het
Got2	A	G	8: 96,596,122 (GRCm39)	S333P	probably benign	Het
Hadhb	T	A	5: 30,381,931 (GRCm39)	L287Q	probably null	Het
Ift57	A	G	16: 49,579,716 (GRCm39)	T211A	probably benign	Het
Il1rap	A	G	16: 26,541,184 (GRCm39)	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,312,316 (GRCm39)	D11E	probably damaging	Het
Impact	T	C	18: 13,117,337 (GRCm39)	S137P	probably benign	Het
Jarid2	T	C	13: 45,064,675 (GRCm39)	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,223,890 (GRCm39)	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,375,325 (GRCm39)	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,618,767 (GRCm39)	Y48C	probably damaging	Het
Klra5	G	T	6: 129,886,848 (GRCm39)	T60K	probably damaging	Het
Kng2	A	T	16: 22,806,270 (GRCm39)	L643H	probably damaging	Het
Lamb3	A	G	1: 193,013,067 (GRCm39)		probably null	Het
Lingo2	A	G	4: 35,708,315 (GRCm39)	V555A	probably damaging	Het
Mbd5	T	C	2: 49,162,946 (GRCm39)	S251P	probably damaging	Het
Mc4r	T	C	18: 66,992,766 (GRCm39)	S116G	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Myo15b	A	C	11: 115,757,461 (GRCm39)	S1104R	probably benign	Het
Nek1	T	A	8: 61,459,771 (GRCm39)	D26E	probably damaging	Het
Neu1	C	T	17: 35,151,089 (GRCm39)		probably benign	Het
Npffr2	T	C	5: 89,730,975 (GRCm39)	S302P	possibly damaging	Het
Or8b48	T	C	9: 38,492,675 (GRCm39)	M34T	probably benign	Het
Palmd	T	A	3: 116,741,689 (GRCm39)		probably benign	Het
Pcdh8	A	T	14: 80,008,047 (GRCm39)	V172E	probably benign	Het
Pnpla6	C	A	8: 3,572,403 (GRCm39)	Q291K	probably damaging	Het
Pou2af2	T	A	9: 51,202,870 (GRCm39)	S95C	probably damaging	Het
Prkch	T	C	12: 73,749,320 (GRCm39)	F357L	probably benign	Het
Ptprj	A	T	2: 90,301,497 (GRCm39)	Y212N	probably damaging	Het
Reln	G	T	5: 22,165,376 (GRCm39)	H2061N	probably benign	Het
Rint1	T	A	5: 24,005,656 (GRCm39)	S113T	probably benign	Het
Rnf38	G	C	4: 44,142,468 (GRCm39)		probably null	Het
Slc30a4	T	A	2: 122,527,936 (GRCm39)	I374L	probably benign	Het
Slfn10-ps	T	C	11: 82,920,676 (GRCm39)		noncoding transcript	Het
Smcp	A	T	3: 92,491,710 (GRCm39)	C46S	unknown	Het
Smu1	A	C	4: 40,748,570 (GRCm39)	V240G	probably damaging	Het
Stn1	T	C	19: 47,524,812 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,262,335 (GRCm39)	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,607,130 (GRCm39)	Y222H	probably benign	Het
Tescl	G	T	7: 24,032,758 (GRCm39)	P189Q	probably benign	Het
Tlr1	A	G	5: 65,084,203 (GRCm39)	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,609,880 (GRCm39)	D566E	possibly damaging	Het
Unc13b	A	T	4: 43,237,144 (GRCm39)	T3405S	probably damaging	Het
Upf1	G	A	8: 70,785,709 (GRCm39)	Q1046*	probably null	Het
Wwox	T	A	8: 115,172,090 (GRCm39)	Y61*	probably null	Het
Zfhx4	C	T	3: 5,468,170 (GRCm39)	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,888,488 (GRCm39)		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
R0344:Srsf5	UTSW	12	80,994,298 (GRCm39)	missense	probably benign	0.00
R0827:Srsf5	UTSW	12	80,996,314 (GRCm39)	missense	probably damaging	1.00
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'- ACCTTTGCGGATGCACATCGAC -3'
(R):5'- AAGAACCACGTTTCTGGCTCTTCTC -3'

Sequencing Primer
(F):5'- GACTGTTGATAATAGGCACCTGC -3'
(R):5'- TCTTCTCAGGCACAGGAGAC -3'

Posted On

2014-04-13