Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Sf3b3'

473030

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

040673-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110810239-110846787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110844523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 4 (Y4H)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034203] [ENSMUST00000042012] [ENSMUST00000165867] [ENSMUST00000172668] [ENSMUST00000172897] [ENSMUST00000174165] [ENSMUST00000174398] [ENSMUST00000174723]

AlphaFold

Q921M3

Predicted Effect

probably benign
Transcript: ENSMUST00000034203

SMART Domains

Protein: ENSMUSP00000034203
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
coiled coil region	34	77	N/A	INTRINSIC
Blast:Cog4	81	178	1e-53	BLAST
Cog4	188	498	1.81e-140	SMART
Pfam:RINT1_TIP1	536	773	3.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042012
AA Change: Y4H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: Y4H

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: ENSMUST00000116868

Predicted Effect

probably benign
Transcript: ENSMUST00000165867

SMART Domains

Protein: ENSMUSP00000128518
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
Blast:Cog4	8	105	6e-54	BLAST
Cog4	115	425	1.81e-140	SMART
PDB:3HR0\|B	452	712	1e-174	PDB
Blast:DIL	621	702	6e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172668

SMART Domains

Protein: ENSMUSP00000134252
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
coiled coil region	34	77	N/A	INTRINSIC
Blast:Cog4	81	117	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172897

SMART Domains

Protein: ENSMUSP00000133583
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174165

SMART Domains

Protein: ENSMUSP00000134306
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
coiled coil region	34	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174398

SMART Domains

Protein: ENSMUSP00000133297
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
coiled coil region	33	76	N/A	INTRINSIC
Blast:Cog4	80	177	9e-54	BLAST
Cog4	187	497	1.81e-140	SMART
PDB:3HR0\|B	524	763	1e-153	PDB
Blast:DIL	672	753	7e-38	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174702

Predicted Effect

probably benign
Transcript: ENSMUST00000174723

SMART Domains

Protein: ENSMUSP00000133471
Gene: ENSMUSG00000031753

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
coiled coil region	34	77	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212843

Meta Mutation Damage Score

0.9295

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	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
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

Predicted Primers

Posted On

2017-04-14