Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Srsf11'

230851

Institutional Source

Beutler Lab

Gene Symbol

Srsf11

Ensembl Gene

ENSMUSG00000055436

Gene Name

serine/arginine-rich splicing factor 11

Synonyms

0610009J05Rik, Sfrs11, 2610019N13Rik

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158010473-158036639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 158019345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 64 (A64T)

Ref Sequence

ENSEMBL: ENSMUSP00000142759 (fasta)

Gene Model

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

AlphaFold

E9Q6E5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069025
AA Change: A239T

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
AA Change: A239T

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

probably benign
Transcript: ENSMUST00000072875
AA Change: A222T

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436
AA Change: A222T

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

noncoding transcript
Transcript: ENSMUST00000089922

Predicted Effect

probably benign
Transcript: ENSMUST00000121326
AA Change: A257T

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436
AA Change: A257T

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

noncoding transcript
Transcript: ENSMUST00000126377

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

noncoding transcript
Transcript: ENSMUST00000127778

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

probably benign
Transcript: ENSMUST00000140491

SMART Domains

Protein: ENSMUSP00000118767
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
Blast:RRM	2	42	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000147304

SMART Domains

Protein: ENSMUSP00000115487
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
RRM	7	81	3.13e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152274

SMART Domains

Protein: ENSMUSP00000127239
Gene: ENSMUSG00000055436

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	274	356	N/A	INTRINSIC
low complexity region	375	382	N/A	INTRINSIC
low complexity region	412	421	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000198705
AA Change: A64T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436
AA Change: A64T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199520

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	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
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
R7615:Srsf11	UTSW	3	158016425	missense	unknown
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'- CCCAAAAGAATCTGATTGGCAC -3'
(R):5'- AGTGGCACTTCACTGCATGC -3'

Sequencing Primer
(F):5'- TCTGATTGGCACTGTACTACATG -3'
(R):5'- CTGCTTATTAAAATGGTGGTTCCC -3'

Posted On

2014-09-18