Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Sf3b3'

383583

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

042545-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111537123-111573578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111540301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1040 (D1040G)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042012
AA Change: D1040G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: D1040G

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: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnm2	A	G	9: 21,415,829 (GRCm39)	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Lamc3	T	C	2: 31,830,748 (GRCm39)	I1495T	probably benign	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tfeb	C	T	17: 48,096,904 (GRCm39)	T33I	probably benign	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Tpcn1	T	A	5: 120,694,596 (GRCm39)	M158L	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	possibly 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
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
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'- CCTAAGGGGTTTCCAAGAGAGG -3'
(R):5'- ATTCAGGGATCACACAAATTGC -3'

Sequencing Primer
(F):5'- TTTCCAAGAGAGGTTAGATGCC -3'
(R):5'- GGGATCACACAAATTGCTATTTTTG -3'

Posted On

2016-04-27