Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Srsf11'

352337

Institutional Source

Beutler Lab

Gene Symbol

Srsf11

Ensembl Gene

ENSMUSG00000055436

Gene Name

serine and arginine-rich splicing factor 11

Synonyms

Sfrs11, 2610019N13Rik, 0610009J05Rik

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157716552-157742311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157728972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 93 (V93A)

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: ENSMUST00000147304
AA Change: V93A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115487
Gene: ENSMUSG00000055436
AA Change: V93A

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: 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: ENSMUST00000198705

SMART Domains

Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	81	175	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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	probably damaging	Het

Other mutations in Srsf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Srsf11	APN	3	157,717,672 (GRCm39)	unclassified	probably benign
IGL01600:Srsf11	APN	3	157,725,079 (GRCm39)	splice site	probably benign
IGL02724:Srsf11	APN	3	157,722,068 (GRCm39)	unclassified	probably benign
IGL03147:Srsf11	UTSW	3	157,732,377 (GRCm39)	missense	probably damaging	1.00
R0195:Srsf11	UTSW	3	157,742,172 (GRCm39)	unclassified	probably benign
R0578:Srsf11	UTSW	3	157,717,704 (GRCm39)	unclassified	probably benign
R0580:Srsf11	UTSW	3	157,717,704 (GRCm39)	unclassified	probably benign
R1075:Srsf11	UTSW	3	157,718,427 (GRCm39)	intron	probably benign
R1604:Srsf11	UTSW	3	157,724,948 (GRCm39)	critical splice donor site	probably null
R1797:Srsf11	UTSW	3	157,725,065 (GRCm39)	missense	possibly damaging	0.92
R1815:Srsf11	UTSW	3	157,722,064 (GRCm39)	unclassified	probably benign
R1899:Srsf11	UTSW	3	157,737,217 (GRCm39)	unclassified	probably benign
R2105:Srsf11	UTSW	3	157,724,982 (GRCm39)	missense	probably damaging	0.99
R4605:Srsf11	UTSW	3	157,728,560 (GRCm39)	nonsense	probably null
R4737:Srsf11	UTSW	3	157,732,369 (GRCm39)	nonsense	probably null
R5244:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5245:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5379:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5401:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5625:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5763:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5814:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5938:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5944:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R5945:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6126:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6175:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6427:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6435:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6436:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6614:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R6616:Srsf11	UTSW	3	157,728,981 (GRCm39)	unclassified	probably benign
R7615:Srsf11	UTSW	3	157,722,062 (GRCm39)	missense	unknown
R8787:Srsf11	UTSW	3	157,718,037 (GRCm39)	missense	unknown
R9352:Srsf11	UTSW	3	157,717,836 (GRCm39)	missense	unknown
R9547:Srsf11	UTSW	3	157,717,735 (GRCm39)	missense	unknown
X0017:Srsf11	UTSW	3	157,721,986 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTGATACACCACCTGAGTTTG -3'
(R):5'- GCCCTACTCTTGATTCCAACAG -3'

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

Posted On

2015-10-08