Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Srsf11'

588816

Institutional Source

Beutler Lab

Gene Symbol

Srsf11

Ensembl Gene

ENSMUSG00000055436

Gene Name

serine/arginine-rich splicing factor 11

Synonyms

0610009J05Rik, Sfrs11, 2610019N13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158010473-158036639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158016425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 270 (S270P)

Ref Sequence

ENSEMBL: ENSMUSP00000072651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069025] [ENSMUST00000072875] [ENSMUST00000121326] [ENSMUST00000126716] [ENSMUST00000137444] [ENSMUST00000198705]

AlphaFold

E9Q6E5

Predicted Effect

unknown
Transcript: ENSMUST00000069025
AA Change: S287P

SMART Domains

Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
AA Change: S287P

Domain	Start	End	E-Value	Type
low complexity region	64	88	N/A	INTRINSIC
low complexity region	91	114	N/A	INTRINSIC
low complexity region	186	264	N/A	INTRINSIC
low complexity region	271	310	N/A	INTRINSIC
low complexity region	328	335	N/A	INTRINSIC
low complexity region	365	374	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000072875
AA Change: S270P

SMART Domains

Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436
AA Change: S270P

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART
low complexity region	117	141	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	239	317	N/A	INTRINSIC
low complexity region	327	409	N/A	INTRINSIC
low complexity region	428	435	N/A	INTRINSIC
low complexity region	465	474	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121326
AA Change: S305P

SMART Domains

Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436
AA Change: S305P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	40	59	N/A	INTRINSIC
RRM	62	136	3.13e-7	SMART
low complexity region	152	176	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	274	352	N/A	INTRINSIC
low complexity region	362	444	N/A	INTRINSIC
low complexity region	463	470	N/A	INTRINSIC
low complexity region	500	509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126716

SMART Domains

Protein: ENSMUSP00000114370
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137444

SMART Domains

Protein: ENSMUSP00000122686
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART
low complexity region	117	141	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000198705
AA Change: S112P

SMART Domains

Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436
AA Change: S112P

Domain	Start	End	E-Value	Type
low complexity region	81	175	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (101/101)

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773	Q466L		Het
Auh	T	C	13: 52,919,013	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558		probably null	Het
Gabrb2	A	C	11: 42,626,742	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459	I159V	probably benign	Het
Iqgap1	A	T	7: 80,730,100	F1175Y	probably damaging	Het
Iqgap1	A	G	7: 80,751,346	V531A	probably benign	Het
Itga1	T	A	13: 114,996,922	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,033,534	K64E	possibly damaging	Het
Larp1b	A	G	3: 41,035,816	N133S	probably benign	Het
Lctl	T	A	9: 64,122,110	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450	K307Q	probably benign	Het
Osbpl9	G	A	4: 109,086,339	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466	K200*	probably null	Het
Plce1	A	T	19: 38,524,665	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418	S31P	unknown	Het
Prlr	T	A	15: 10,325,924	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297	T4291M		Het
Rtn1	A	G	12: 72,304,143	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604		probably benign	Het
Scyl3	A	T	1: 163,950,338		probably null	Het
Sh2b2	G	T	5: 136,219,657	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286	N857K	probably benign	Het
Speg	T	C	1: 75,429,242	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900	D70E	probably benign	Het
Ssr3	A	C	3: 65,387,792	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388		probably null	Het
Tmem51	G	A	4: 142,037,564	T61M	probably damaging	Het
Tonsl	A	T	15: 76,630,607	D1132E	probably benign	Het
Tor1aip1	C	T	1: 156,007,584	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560		probably benign	Het
Uggt2	G	T	14: 119,089,269	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203	K556N	probably damaging	Het

Other mutations in Srsf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Srsf11	APN	3	158012035	unclassified	probably benign
IGL01600:Srsf11	APN	3	158019442	splice site	probably benign
IGL02724:Srsf11	APN	3	158016431	unclassified	probably benign
IGL03147:Srsf11	UTSW	3	158026740	missense	probably damaging	1.00
R0195:Srsf11	UTSW	3	158036535	unclassified	probably benign
R0578:Srsf11	UTSW	3	158012067	unclassified	probably benign
R0580:Srsf11	UTSW	3	158012067	unclassified	probably benign
R1075:Srsf11	UTSW	3	158012790	intron	probably benign
R1604:Srsf11	UTSW	3	158019311	critical splice donor site	probably null
R1797:Srsf11	UTSW	3	158019428	missense	possibly damaging	0.92
R1815:Srsf11	UTSW	3	158016427	unclassified	probably benign
R1899:Srsf11	UTSW	3	158031580	unclassified	probably benign
R2105:Srsf11	UTSW	3	158019345	missense	probably damaging	0.99
R4605:Srsf11	UTSW	3	158022923	nonsense	probably null
R4655:Srsf11	UTSW	3	158023335	missense	probably benign	0.15
R4737:Srsf11	UTSW	3	158026732	nonsense	probably null
R5244:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5245:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5379:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5401:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5625:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5763:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5814:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5938:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5944:Srsf11	UTSW	3	158023344	unclassified	probably benign
R5945:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6126:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6175:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6427:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6435:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6436:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6614:Srsf11	UTSW	3	158023344	unclassified	probably benign
R6616:Srsf11	UTSW	3	158023344	unclassified	probably benign
R8787:Srsf11	UTSW	3	158012400	missense	unknown
R9352:Srsf11	UTSW	3	158012199	missense	unknown
R9547:Srsf11	UTSW	3	158012098	missense	unknown
X0017:Srsf11	UTSW	3	158016349	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCATCCTCAAGCCATGTTTC -3'
(R):5'- TTGTGAGGTCTAGAAGATAACTGGG -3'

Sequencing Primer
(F):5'- CCTCAATTCTGTAACAAAGAAGCCTG -3'
(R):5'- GCTAAATGATGATCGCAGCTGAC -3'

Posted On

2019-10-24