Mutagenetix > Incidental Mutation

Incidental Mutation 'R7078:Sf3b3'

549356

Institutional Source

Beutler Lab

Gene Symbol

Sf3b3

Ensembl Gene

ENSMUSG00000033732

Gene Name

splicing factor 3b, subunit 3

Synonyms

SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111537123-111573578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111539639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1075 (A1075T)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042012
AA Change: A1075T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: A1075T

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: 99.6%
20x: 98.8%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,154,138 (GRCm39)	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,579,434 (GRCm39)	H20L	probably benign	Het
Ankrd52	T	A	10: 128,219,526 (GRCm39)	C487S	probably benign	Het
Ap1s3	T	C	1: 79,602,845 (GRCm39)	E54G	probably benign	Het
Arglu1	A	C	8: 8,717,361 (GRCm39)	M236R	probably benign	Het
Baz1b	T	A	5: 135,246,293 (GRCm39)	F581I	probably benign	Het
Bbox1	T	G	2: 110,122,884 (GRCm39)	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,400,786 (GRCm39)	V69E	probably damaging	Het
Brinp3	C	T	1: 146,390,627 (GRCm39)	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 51,029,724 (GRCm39)	K113*	probably null	Het
Cep128	T	C	12: 91,200,878 (GRCm39)	I830M	probably damaging	Het
Ces2f	C	T	8: 105,681,284 (GRCm39)	T541I	probably damaging	Het
Chsy3	C	A	18: 59,309,149 (GRCm39)	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,328,271 (GRCm39)	T112P	probably damaging	Het
Cplane2	A	T	4: 140,947,159 (GRCm39)	Y180F	probably benign	Het
Dcc	T	A	18: 71,680,469 (GRCm39)	K589I	probably benign	Het
Depdc1b	T	A	13: 108,523,505 (GRCm39)	I460K	possibly damaging	Het
Dlst	T	C	12: 85,157,705 (GRCm39)	F12S	probably benign	Het
Dnah1	G	C	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,798,480 (GRCm39)	Q438R	possibly damaging	Het
Dusp4	C	A	8: 35,275,065 (GRCm39)	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688 (GRCm39)	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,661,407 (GRCm39)	S512P	probably benign	Het
Elapor2	A	G	5: 9,460,709 (GRCm39)	N210S	probably benign	Het
Eya1	C	T	1: 14,301,636 (GRCm39)		probably null	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fzr1	T	A	10: 81,204,463 (GRCm39)	D379V	probably damaging	Het
Gk2	T	A	5: 97,604,195 (GRCm39)	E214D	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gmnc	A	T	16: 26,779,272 (GRCm39)	V251E	probably benign	Het
Golga3	A	G	5: 110,340,953 (GRCm39)	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,736,204 (GRCm39)	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,244,914 (GRCm39)	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,674,937 (GRCm39)	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,229,583 (GRCm39)	V29A	probably damaging	Het
Hecw1	A	T	13: 14,609,044 (GRCm39)	M1K	probably null	Het
Hmcn1	T	C	1: 150,736,118 (GRCm39)	D117G	probably damaging	Het
Ifnab	T	A	4: 88,609,350 (GRCm39)	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,904,566 (GRCm39)	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,288,437 (GRCm39)	P103L	probably damaging	Het
Macf1	T	G	4: 123,325,936 (GRCm39)	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,453,151 (GRCm39)	E348G	probably damaging	Het
Med25	G	T	7: 44,534,325 (GRCm39)	A280D	probably damaging	Het
Mep1b	C	A	18: 21,233,108 (GRCm39)	A703E	probably benign	Het
Morn5	T	A	2: 35,944,990 (GRCm39)	N71K	probably benign	Het
Mtmr10	T	A	7: 63,970,375 (GRCm39)	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756 (GRCm39)	V302L	probably benign	Het
Notch4	A	G	17: 34,801,520 (GRCm39)	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,816,452 (GRCm39)	M88K	possibly damaging	Het
Or12k8	A	G	2: 36,975,608 (GRCm39)	S51P	possibly damaging	Het
Or5b100-ps1	A	T	19: 12,994,097 (GRCm39)	D170V	possibly damaging	Het
Or6d12	T	A	6: 116,493,632 (GRCm39)	L298Q	probably damaging	Het
Or8g4	A	T	9: 39,661,787 (GRCm39)	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,953 (GRCm39)	N694S	probably benign	Het
Pecam1	T	A	11: 106,579,773 (GRCm39)	T430S	probably benign	Het
Plaa	T	G	4: 94,462,288 (GRCm39)	T530P	probably benign	Het
Ppfia3	G	T	7: 45,010,019 (GRCm39)	Q95K	probably damaging	Het
Ppp4r2	T	C	6: 100,843,274 (GRCm39)	S331P	probably benign	Het
Prg4	T	C	1: 150,334,014 (GRCm39)	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,103,531 (GRCm39)	D1003V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rasef	T	C	4: 73,698,626 (GRCm39)	I12V	probably benign	Het
Robo2	T	G	16: 74,149,504 (GRCm39)	Y108S	probably damaging	Het
Rp1	T	A	1: 4,277,014 (GRCm39)	E762V	unknown	Het
Rsrc1	T	C	3: 66,901,987 (GRCm39)	S46P	unknown	Het
Rttn	A	T	18: 89,027,546 (GRCm39)	T554S	probably benign	Het
Sall3	C	T	18: 81,017,314 (GRCm39)	V205M	probably damaging	Het
Scn3a	C	A	2: 65,327,944 (GRCm39)	V849L	probably damaging	Het
Sec23a	A	G	12: 59,039,069 (GRCm39)	C277R	probably benign	Het
Sfxn5	T	C	6: 85,309,366 (GRCm39)	D113G	unknown	Het
Slc22a22	C	T	15: 57,126,876 (GRCm39)	M64I	probably benign	Het
Slc5a11	C	T	7: 122,857,669 (GRCm39)	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,798,067 (GRCm39)	F449S	probably damaging	Het
Sspo	C	T	6: 48,437,313 (GRCm39)	T1357M	probably damaging	Het
Styx	C	T	14: 45,609,873 (GRCm39)	T179I	probably benign	Het
Syt7	A	T	19: 10,412,963 (GRCm39)	T297S	probably benign	Het
Tbx19	T	A	1: 164,988,135 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,545,392 (GRCm39)	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,299,238 (GRCm39)	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem219	T	A	7: 126,490,975 (GRCm39)	T161S	probably damaging	Het
Tox2	T	A	2: 163,162,501 (GRCm39)	L68H		Het
Trim5	T	A	7: 103,927,681 (GRCm39)	D153V	possibly damaging	Het
Ttn	T	C	2: 76,580,651 (GRCm39)	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,582,153 (GRCm39)	N22913K	probably damaging	Het
Ubr2	A	C	17: 47,266,779 (GRCm39)	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 85,815,568 (GRCm39)	S99P	probably damaging	Het
Wdr83	T	C	8: 85,802,680 (GRCm39)	D219G	probably damaging	Het
Wdr90	C	T	17: 26,068,623 (GRCm39)	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,351,581 (GRCm39)	L62F	probably damaging	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
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
R7544:Sf3b3	UTSW	8	111,564,915 (GRCm39)	missense	probably benign	0.01
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'- GTGATATAAGTAAGCACCGTGTG -3'
(R):5'- TAAACAGTGTTGAGCCCTTGTTTG -3'

Sequencing Primer
(F):5'- GTAAGCACCGTGTGAAAAATCTC -3'
(R):5'- GGCTTCTCACTTCCTAAACAGCAG -3'

Posted On

2019-05-15