Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02833:Sf3b3'

361552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sf3b3

Ensembl Gene

ENSMUSG00000033732

Gene Name

splicing factor 3b, subunit 3

Synonyms

5730409A01Rik, 1810061H24Rik, D8Ertd633e, SAP130, RSE1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL02833

Quality Score

Status

Chromosome

Chromosomal Location

110810239-110846787 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 110811977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042012]

AlphaFold

Q921M3

Predicted Effect

probably null
Transcript: ENSMUST00000042012

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732

Domain	Start	End	E-Value	Type
Blast:SH3	17	70	5e-13	BLAST
Pfam:MMS1_N	76	592	3.2e-185	PFAM
low complexity region	716	728	N/A	INTRINSIC
Pfam:CPSF_A	863	1184	4.3e-104	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157018

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	G	T	2: 85,502,207	R158S	possibly damaging	Het
Ache	A	G	5: 137,291,109		probably benign	Het
Atr	A	T	9: 95,862,852	H74L	probably damaging	Het
Brca2	A	T	5: 150,541,790	H1673L	possibly damaging	Het
Brwd1	A	T	16: 96,052,571	I495K	probably damaging	Het
Cacna1s	A	T	1: 136,071,005	I213F	probably benign	Het
Cds1	T	C	5: 101,814,466	S316P	possibly damaging	Het
Ces1b	G	A	8: 93,079,410	P68S	probably damaging	Het
Cilp	A	G	9: 65,277,924	I434V	probably benign	Het
Csgalnact2	A	G	6: 118,129,268	Y30H	probably damaging	Het
D430042O09Rik	A	T	7: 125,850,412	R883*	probably null	Het
Defb7	T	C	8: 19,495,124	V6A	probably benign	Het
Dlg2	A	T	7: 92,431,127	L841F	probably damaging	Het
Dnajc14	A	G	10: 128,806,599	N130S	possibly damaging	Het
Dock7	T	A	4: 98,945,495	D1863V	probably damaging	Het
Dsp	A	G	13: 38,192,921	R1561G	possibly damaging	Het
Gstt4	G	T	10: 75,822,340	F28L	probably damaging	Het
Hectd1	G	T	12: 51,764,081	D1690E	probably damaging	Het
Hspb11	T	C	4: 107,275,295		probably benign	Het
Hspg2	T	C	4: 137,555,130	S3394P	probably benign	Het
Igf2r	A	T	17: 12,692,723	C1910S	probably damaging	Het
Jakmip2	T	C	18: 43,575,451		probably benign	Het
Kif1b	C	T	4: 149,246,364	V612M	probably damaging	Het
Lrrd1	A	G	5: 3,850,709	E338G	probably damaging	Het
Mmp9	C	A	2: 164,949,803	D205E	probably damaging	Het
Mylk	A	T	16: 34,914,900	H750L	probably benign	Het
Naip6	A	G	13: 100,299,613	S801P	probably damaging	Het
Nlrp1b	A	T	11: 71,161,172	M980K	probably benign	Het
Olfr1173	C	A	2: 88,274,432	V206F	probably benign	Het
Olfr125	G	A	17: 37,835,940	V314I	probably benign	Het
Olfr131	T	C	17: 38,082,352	K209E	possibly damaging	Het
Olfr794	A	G	10: 129,570,750	T32A	probably benign	Het
Pdk1	A	G	2: 71,897,645		probably null	Het
Pex7	A	G	10: 19,894,754	S125P	probably damaging	Het
Pigu	T	C	2: 155,345,645		probably benign	Het
Prr16	T	A	18: 51,303,092	H214Q	probably damaging	Het
Psme4	C	T	11: 30,850,715		probably benign	Het
Sp4	T	C	12: 118,261,881	I583V	probably benign	Het
Spata22	A	G	11: 73,343,743	T224A	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tmem119	T	A	5: 113,795,371	Y123F	probably damaging	Het
Umps	A	T	16: 33,962,153	L133*	probably null	Het
Usp46	T	A	5: 74,016,682	T179S	probably benign	Het
Vtcn1	T	A	3: 100,888,385	Y223N	probably damaging	Het
Wiz	A	G	17: 32,357,879	M567T	probably damaging	Het

Other mutations in Sf3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Sf3b3	APN	8	110813751	nonsense	probably null
IGL00770:Sf3b3	APN	8	110817638	missense	probably damaging	0.96
IGL00774:Sf3b3	APN	8	110817638	missense	probably damaging	0.96
IGL01132:Sf3b3	APN	8	110842781	missense	probably benign
IGL01487:Sf3b3	APN	8	110817660	missense	probably benign	0.01
IGL02015:Sf3b3	APN	8	110816290	missense	possibly damaging	0.82
IGL02126:Sf3b3	APN	8	110823443	missense	probably benign
IGL02612:Sf3b3	APN	8	110842976	missense	probably benign
IGL03033:Sf3b3	APN	8	110810964	missense	possibly damaging	0.62
IGL03366:Sf3b3	APN	8	110839954	missense	probably damaging	1.00
R0458:Sf3b3	UTSW	8	110812136	splice site	probably benign
R0907:Sf3b3	UTSW	8	110811510	splice site	probably benign
R1344:Sf3b3	UTSW	8	110838303	missense	probably damaging	0.98
R1468:Sf3b3	UTSW	8	110837374	missense	probably damaging	1.00
R1468:Sf3b3	UTSW	8	110837374	missense	probably damaging	1.00
R1736:Sf3b3	UTSW	8	110813832	missense	probably benign
R1833:Sf3b3	UTSW	8	110817566	missense	probably benign
R2225:Sf3b3	UTSW	8	110814573	missense	probably damaging	1.00
R3236:Sf3b3	UTSW	8	110812020	missense	probably damaging	0.99
R3615:Sf3b3	UTSW	8	110844523	missense	probably damaging	1.00
R3616:Sf3b3	UTSW	8	110844523	missense	probably damaging	1.00
R3683:Sf3b3	UTSW	8	110813621	critical splice donor site	probably null
R4197:Sf3b3	UTSW	8	110821565	missense	probably damaging	0.98
R4429:Sf3b3	UTSW	8	110826118	missense	probably benign	0.01
R4674:Sf3b3	UTSW	8	110844505	missense	probably damaging	0.99
R4895:Sf3b3	UTSW	8	110816024	missense	probably benign	0.00
R4931:Sf3b3	UTSW	8	110816329	missense	probably benign	0.00
R4948:Sf3b3	UTSW	8	110813669	missense	probably damaging	0.99
R4999:Sf3b3	UTSW	8	110841203	missense	probably benign	0.34
R5150:Sf3b3	UTSW	8	110823376	missense	possibly damaging	0.88
R5175:Sf3b3	UTSW	8	110833835	missense	probably benign
R5559:Sf3b3	UTSW	8	110838215	missense	probably benign	0.00
R5866:Sf3b3	UTSW	8	110814634	missense	probably benign
R5934:Sf3b3	UTSW	8	110823470	missense	probably damaging	0.99
R6270:Sf3b3	UTSW	8	110841820	missense	probably damaging	1.00
R6803:Sf3b3	UTSW	8	110825578	missense	probably benign	0.01
R7078:Sf3b3	UTSW	8	110813007	missense	possibly damaging	0.90
R7252:Sf3b3	UTSW	8	110839930	missense	probably damaging	0.99
R7467:Sf3b3	UTSW	8	110811456	missense	possibly damaging	0.89
R7523:Sf3b3	UTSW	8	110813720	missense	probably benign	0.35
R7544:Sf3b3	UTSW	8	110838283	missense	probably benign	0.01
R7638:Sf3b3	UTSW	8	110820813	missense	probably damaging	1.00
R7934:Sf3b3	UTSW	8	110821530	missense	probably benign	0.05
R7973:Sf3b3	UTSW	8	110816290	missense	possibly damaging	0.82
R8141:Sf3b3	UTSW	8	110820851	missense	possibly damaging	0.87
R8745:Sf3b3	UTSW	8	110824184	missense	possibly damaging	0.94
R8914:Sf3b3	UTSW	8	110813807	missense	probably benign
R8948:Sf3b3	UTSW	8	110823443	missense	probably benign
R9269:Sf3b3	UTSW	8	110812026	missense	probably damaging	0.99
R9339:Sf3b3	UTSW	8	110816222	missense	probably benign
R9445:Sf3b3	UTSW	8	110826142	missense	possibly damaging	0.54
X0024:Sf3b3	UTSW	8	110842932	missense	probably benign	0.08

Posted On

2015-12-18