Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Srsf11'

487381

Institutional Source

Beutler Lab

Gene Symbol

Srsf11

Ensembl Gene

ENSMUSG00000055436

Gene Name

serine/arginine-rich splicing factor 11

Synonyms

0610009J05Rik, Sfrs11, 2610019N13Rik

MMRRC Submission

044273-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158010473-158036639 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 158023344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142759 (fasta)

Gene Model

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

AlphaFold

E9Q6E5

Predicted Effect

probably benign
Transcript: ENSMUST00000069025

SMART Domains

Protein: ENSMUSP00000063916
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	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

SMART Domains

Protein: ENSMUSP00000072651
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
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

SMART Domains

Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436

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

noncoding transcript
Transcript: ENSMUST00000127778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133090

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

SMART Domains

Protein: ENSMUSP00000115487
Gene: ENSMUSG00000055436
AA Change: R90Q

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

noncoding transcript
Transcript: ENSMUST00000199520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196034

Predicted Effect

probably benign
Transcript: ENSMUST00000198705

SMART Domains

Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dst	T	A	1: 34,228,183	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570	K638*	probably null	Het
Fblim1	G	A	4: 141,584,722	R231C	probably damaging	Het
Fig4	A	G	10: 41,265,447	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313	R72H	unknown	Het
Gm906	G	T	13: 50,246,290	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011		probably null	Het
Mnx1	G	T	5: 29,478,112	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887		probably null	Het
Olfr530	T	G	7: 140,373,253	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457		probably benign	Het
Panx1	T	A	9: 15,007,790	I258F	probably benign	Het
Pask	T	C	1: 93,314,359	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr1	A	C	7: 29,076,239	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285	V1503D	probably damaging	Het
Tex15	A	G	8: 33,573,563	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348		probably benign	Het
Zfp292	T	C	4: 34,808,497	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	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
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'- ACCACCTGAGTTTGTTGAAAGTAC -3'
(R):5'- AGCCCTACTCTTGATTCCAACAG -3'

Sequencing Primer
(F):5'- GTCAGAATGAAACTTCAATGTGTG -3'
(R):5'- ACTCTTGATTCCAACAGAATATTTCC -3'

Posted On

2017-10-10