Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Sf3b3'

584096

Institutional Source

Beutler Lab

Gene Symbol

Sf3b3

Ensembl Gene

ENSMUSG00000033732

Gene Name

splicing factor 3b, subunit 3

Synonyms

SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111537123-111573578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111564915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 298 (M298V)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

probably benign
Transcript: ENSMUST00000042012
AA Change: M298V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: M298V

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

Coding Region Coverage

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	probably benign	Het

Other mutations in Sf3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Sf3b3	APN	8	111,540,383 (GRCm39)	nonsense	probably null
IGL00770:Sf3b3	APN	8	111,544,270 (GRCm39)	missense	probably damaging	0.96
IGL00774:Sf3b3	APN	8	111,544,270 (GRCm39)	missense	probably damaging	0.96
IGL01132:Sf3b3	APN	8	111,569,413 (GRCm39)	missense	probably benign
IGL01487:Sf3b3	APN	8	111,544,292 (GRCm39)	missense	probably benign	0.01
IGL02015:Sf3b3	APN	8	111,542,922 (GRCm39)	missense	possibly damaging	0.82
IGL02126:Sf3b3	APN	8	111,550,075 (GRCm39)	missense	probably benign
IGL02612:Sf3b3	APN	8	111,569,608 (GRCm39)	missense	probably benign
IGL02833:Sf3b3	APN	8	111,538,609 (GRCm39)	critical splice donor site	probably null
IGL03033:Sf3b3	APN	8	111,537,596 (GRCm39)	missense	possibly damaging	0.62
IGL03366:Sf3b3	APN	8	111,566,586 (GRCm39)	missense	probably damaging	1.00
R0458:Sf3b3	UTSW	8	111,538,768 (GRCm39)	splice site	probably benign
R0907:Sf3b3	UTSW	8	111,538,142 (GRCm39)	splice site	probably benign
R1344:Sf3b3	UTSW	8	111,564,935 (GRCm39)	missense	probably damaging	0.98
R1468:Sf3b3	UTSW	8	111,564,006 (GRCm39)	missense	probably damaging	1.00
R1468:Sf3b3	UTSW	8	111,564,006 (GRCm39)	missense	probably damaging	1.00
R1736:Sf3b3	UTSW	8	111,540,464 (GRCm39)	missense	probably benign
R1833:Sf3b3	UTSW	8	111,544,198 (GRCm39)	missense	probably benign
R2225:Sf3b3	UTSW	8	111,541,205 (GRCm39)	missense	probably damaging	1.00
R3236:Sf3b3	UTSW	8	111,538,652 (GRCm39)	missense	probably damaging	0.99
R3615:Sf3b3	UTSW	8	111,571,155 (GRCm39)	missense	probably damaging	1.00
R3616:Sf3b3	UTSW	8	111,571,155 (GRCm39)	missense	probably damaging	1.00
R3683:Sf3b3	UTSW	8	111,540,253 (GRCm39)	critical splice donor site	probably null
R4197:Sf3b3	UTSW	8	111,548,197 (GRCm39)	missense	probably damaging	0.98
R4429:Sf3b3	UTSW	8	111,552,750 (GRCm39)	missense	probably benign	0.01
R4674:Sf3b3	UTSW	8	111,571,137 (GRCm39)	missense	probably damaging	0.99
R4895:Sf3b3	UTSW	8	111,542,656 (GRCm39)	missense	probably benign	0.00
R4931:Sf3b3	UTSW	8	111,542,961 (GRCm39)	missense	probably benign	0.00
R4948:Sf3b3	UTSW	8	111,540,301 (GRCm39)	missense	probably damaging	0.99
R4999:Sf3b3	UTSW	8	111,567,835 (GRCm39)	missense	probably benign	0.34
R5150:Sf3b3	UTSW	8	111,550,008 (GRCm39)	missense	possibly damaging	0.88
R5175:Sf3b3	UTSW	8	111,560,467 (GRCm39)	missense	probably benign
R5559:Sf3b3	UTSW	8	111,564,847 (GRCm39)	missense	probably benign	0.00
R5866:Sf3b3	UTSW	8	111,541,266 (GRCm39)	missense	probably benign
R5934:Sf3b3	UTSW	8	111,550,102 (GRCm39)	missense	probably damaging	0.99
R6270:Sf3b3	UTSW	8	111,568,452 (GRCm39)	missense	probably damaging	1.00
R6803:Sf3b3	UTSW	8	111,552,210 (GRCm39)	missense	probably benign	0.01
R7078:Sf3b3	UTSW	8	111,539,639 (GRCm39)	missense	possibly damaging	0.90
R7252:Sf3b3	UTSW	8	111,566,562 (GRCm39)	missense	probably damaging	0.99
R7467:Sf3b3	UTSW	8	111,538,088 (GRCm39)	missense	possibly damaging	0.89
R7523:Sf3b3	UTSW	8	111,540,352 (GRCm39)	missense	probably benign	0.35
R7638:Sf3b3	UTSW	8	111,547,445 (GRCm39)	missense	probably damaging	1.00
R7934:Sf3b3	UTSW	8	111,548,162 (GRCm39)	missense	probably benign	0.05
R7973:Sf3b3	UTSW	8	111,542,922 (GRCm39)	missense	possibly damaging	0.82
R8141:Sf3b3	UTSW	8	111,547,483 (GRCm39)	missense	possibly damaging	0.87
R8745:Sf3b3	UTSW	8	111,550,816 (GRCm39)	missense	possibly damaging	0.94
R8914:Sf3b3	UTSW	8	111,540,439 (GRCm39)	missense	probably benign
R8948:Sf3b3	UTSW	8	111,550,075 (GRCm39)	missense	probably benign
R9269:Sf3b3	UTSW	8	111,538,658 (GRCm39)	missense	probably damaging	0.99
R9339:Sf3b3	UTSW	8	111,542,854 (GRCm39)	missense	probably benign
R9445:Sf3b3	UTSW	8	111,552,774 (GRCm39)	missense	possibly damaging	0.54
X0024:Sf3b3	UTSW	8	111,569,564 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCATGCATAAACAGCGAGTAC -3'
(R):5'- GGCTGCAGAGTGGAATATTAGC -3'

Sequencing Primer
(F):5'- GCATGCATAAACAGCGAGTACTTTAG -3'
(R):5'- AGCAGCTATTGTGGGCAG -3'

Posted On

2019-10-17