Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Sf3b3'

702767

Institutional Source

Beutler Lab

Gene Symbol

Sf3b3

Ensembl Gene

ENSMUSG00000033732

Gene Name

splicing factor 3b, subunit 3

Synonyms

5730409A01Rik, 1810061H24Rik, D8Ertd633e, SAP130, RSE1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110810239-110846787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110812026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1121 (T1121A)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042012
AA Change: T1121A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: T1121A

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: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016	Q1683P	probably damaging	Het
A2m	T	C	6: 121,660,906	S845P	probably benign	Het
Actn1	T	A	12: 80,172,971	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329	A354V	probably benign	Het
Atg2b	A	G	12: 105,652,100	S898P	probably damaging	Het
Atxn1	T	A	13: 45,557,204	T751S	probably benign	Het
Begain	T	A	12: 109,033,193	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,141,871	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cop1	C	T	1: 159,288,983	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945		probably null	Het
Klf10	A	G	15: 38,297,758	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640	N226I	unknown	Het
Olfr472	T	A	7: 107,903,320	I201N	possibly damaging	Het
Olfr715	T	C	7: 107,128,626	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxna1	T	C	6: 89,329,559	R1430G	probably null	Het
Plxna4	T	C	6: 32,178,380	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286	Y619C	probably damaging	Het
Sgk3	T	C	1: 9,872,309	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074	S13*	probably null	Het
Srek1	T	C	13: 103,753,146		probably null	Het
Sugp1	G	T	8: 70,056,570	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342	C325S	probably benign	Het
Themis	T	C	10: 28,863,394	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320	E233G	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
IGL02833:Sf3b3	APN	8	110811977	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AACGCAGGATTCTGTTTTCTAGG -3'
(R):5'- AACGCAAAGCTTTAAGTGATGG -3'

Sequencing Primer
(F):5'- GGATTCTGTTTTCTAGGCACCTTAAC -3'
(R):5'- CAGGGTTCCATCTCTGACAGTG -3'

Posted On

2022-03-25