Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Sf3b3'

578867

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

045541-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111537123-111573578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111538088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1150 (S1150P)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042012
AA Change: S1150P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: S1150P

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 56,098,952 (GRCm39)	V153I	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	A	G	7: 44,795,331 (GRCm39)	Y443H	probably benign	Het
Apbb1	A	G	7: 105,215,339 (GRCm39)	V434A	probably benign	Het
Atrip	A	G	9: 108,898,422 (GRCm39)	M199T	probably damaging	Het
Atxn2	T	C	5: 121,940,330 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,708,103 (GRCm39)	T240A	probably benign	Het
Btf3l4	A	T	4: 108,675,589 (GRCm39)		probably null	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Cdk15	G	T	1: 59,328,938 (GRCm39)	W282L	probably null	Het
Cflar	T	A	1: 58,765,597 (GRCm39)	M1K	probably null	Het
Champ1	C	A	8: 13,928,579 (GRCm39)	P246T	possibly damaging	Het
Crat	A	C	2: 30,299,994 (GRCm39)	F129V	probably damaging	Het
Csmd3	T	C	15: 47,492,640 (GRCm39)	N2256S		Het
Cwh43	C	A	5: 73,569,311 (GRCm39)	Q118K	probably damaging	Het
Daam1	A	T	12: 72,032,580 (GRCm39)	K949*	probably null	Het
Ddn	C	G	15: 98,703,247 (GRCm39)	E682Q	possibly damaging	Het
Des	T	A	1: 75,339,605 (GRCm39)	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,392,672 (GRCm39)	V460A	probably damaging	Het
Dst	G	A	1: 34,230,236 (GRCm39)	E2610K	probably benign	Het
Efr3a	C	T	15: 65,729,360 (GRCm39)	T660I	possibly damaging	Het
Eogt	T	C	6: 97,119,794 (GRCm39)	E138G	probably benign	Het
Epha8	G	A	4: 136,658,399 (GRCm39)	A992V	possibly damaging	Het
Exoc2	A	T	13: 31,109,716 (GRCm39)	D217E	probably damaging	Het
Fam222b	T	C	11: 78,045,173 (GRCm39)	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,057,339 (GRCm39)	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,755,993 (GRCm39)	T170A	probably benign	Het
Fbxw26	A	T	9: 109,561,765 (GRCm39)	V143E	probably benign	Het
Foxb2	T	C	19: 16,851,004 (GRCm39)	M1V	probably null	Het
Gm11596	C	A	11: 99,683,962 (GRCm39)	V53L	unknown	Het
Gm47791	A	G	1: 82,748,547 (GRCm39)	*140Q	probably null	Het
Gpr179	C	T	11: 97,226,115 (GRCm39)	M2013I	probably benign	Het
Hck	T	A	2: 152,971,850 (GRCm39)	L137*	probably null	Het
Hectd4	T	A	5: 121,462,024 (GRCm39)	C964S	possibly damaging	Het
Hexa	T	C	9: 59,464,683 (GRCm39)		probably null	Het
Ifna12	C	A	4: 88,521,502 (GRCm39)	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,807,234 (GRCm39)	V34L	probably damaging	Het
Kif18b	A	T	11: 102,803,174 (GRCm39)		probably null	Het
Kifap3	A	T	1: 163,643,402 (GRCm39)	H209L	probably benign	Het
Klhl1	A	T	14: 96,360,713 (GRCm39)	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,513,530 (GRCm39)	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,784,953 (GRCm39)	Y250H	probably damaging	Het
Manba	G	T	3: 135,250,562 (GRCm39)	E396D	probably damaging	Het
Mapkbp1	T	A	2: 119,852,669 (GRCm39)	V997E	probably damaging	Het
Mdc1	A	G	17: 36,155,448 (GRCm39)	H41R	probably benign	Het
Mis18a	T	G	16: 90,516,866 (GRCm39)	M179L	probably benign	Het
Mmp25	C	G	17: 23,863,756 (GRCm39)	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621 (GRCm39)	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125 (GRCm39)	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,114,277 (GRCm39)	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,955,895 (GRCm39)	M1L	probably benign	Het
Myo1d	G	A	11: 80,477,743 (GRCm39)	T880I	probably damaging	Het
Ncaph	T	A	2: 126,975,795 (GRCm39)		probably benign	Het
Nln	T	C	13: 104,161,530 (GRCm39)	D680G	possibly damaging	Het
Noct	C	T	3: 51,132,622 (GRCm39)	A33V	probably benign	Het
Nolc1	A	G	19: 46,070,773 (GRCm39)	T325A	unknown	Het
Nr2e3	A	G	9: 59,856,434 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,155,459 (GRCm39)	H450L	probably benign	Het
Or13a21	T	C	7: 139,999,287 (GRCm39)	N133S	probably benign	Het
Or2t43	A	C	11: 58,457,288 (GRCm39)	N294K	possibly damaging	Het
Or5ak24	T	G	2: 85,261,171 (GRCm39)	M1L	possibly damaging	Het
Or5an1	T	A	19: 12,260,839 (GRCm39)	C142*	probably null	Het
Or6b3	T	A	1: 92,439,570 (GRCm39)	Y60F	possibly damaging	Het
Pank2	T	A	2: 131,115,967 (GRCm39)	N128K	possibly damaging	Het
Pcdha3	T	C	18: 37,080,584 (GRCm39)	V442A	probably damaging	Het
Pds5b	T	A	5: 150,659,792 (GRCm39)	S252T	probably damaging	Het
Pfpl	T	C	19: 12,405,878 (GRCm39)	L43S	probably damaging	Het
Pigu	T	A	2: 155,141,009 (GRCm39)	I295F	probably damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Pls1	A	G	9: 95,651,166 (GRCm39)	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,105,305 (GRCm39)	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,519,317 (GRCm39)	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,504,932 (GRCm39)	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,538,473 (GRCm39)		probably null	Het
Psmd1	G	A	1: 86,044,355 (GRCm39)	V648M	probably damaging	Het
Rad50	T	C	11: 53,545,735 (GRCm39)	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,800,542 (GRCm39)	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rpl9	T	C	5: 65,548,310 (GRCm39)	T9A	probably benign	Het
Samd4	A	G	14: 47,325,313 (GRCm39)	N598D	probably benign	Het
Sema7a	T	C	9: 57,868,705 (GRCm39)	Y606H	probably damaging	Het
Sirt1	T	C	10: 63,157,929 (GRCm39)	N495S	probably benign	Het
Slc17a3	T	C	13: 24,030,950 (GRCm39)		probably null	Het
Slc25a22	T	C	7: 141,013,889 (GRCm39)	T24A	probably benign	Het
Slc30a9	T	C	5: 67,502,987 (GRCm39)	I363T	probably benign	Het
Srbd1	A	G	17: 86,406,702 (GRCm39)	V561A	probably damaging	Het
Srgap1	C	A	10: 121,691,344 (GRCm39)	E297*	probably null	Het
Srgap2	T	C	1: 131,220,405 (GRCm39)	S896G	probably damaging	Het
Sspo	T	C	6: 48,463,237 (GRCm39)	C3730R	probably damaging	Het
Stat2	T	A	10: 128,113,772 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,977 (GRCm39)	K581E	unknown	Het
Tdpoz6	T	A	3: 93,600,265 (GRCm39)	T35S	probably benign	Het
Thbs1	T	C	2: 117,948,681 (GRCm39)	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,584 (GRCm39)	Y1330C		Het
Tmem121	C	A	12: 113,152,690 (GRCm39)	P303T	probably benign	Het
Tmem87b	T	A	2: 128,691,071 (GRCm39)		probably null	Het
Tmem98	A	T	11: 80,711,011 (GRCm39)		probably null	Het
Trpm3	T	A	19: 22,955,698 (GRCm39)	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,755,250 (GRCm39)	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,306,320 (GRCm39)	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393 (GRCm39)	N7S	probably benign	Het
Wdr6	T	C	9: 108,450,201 (GRCm39)	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,454,156 (GRCm39)	V193A	probably benign	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,821,080 (GRCm39)	E89V	probably benign	Het
Zswim3	T	A	2: 164,661,795 (GRCm39)	F92I	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
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
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'- TCACAGATGAATCACCAGGTC -3'
(R):5'- CAGCAAGAATGGGTGGCTTG -3'

Sequencing Primer
(F):5'- GATGAATCACCAGGTCCCTTGAG -3'
(R):5'- CCAATACTAAGTGGGCTGTGTC -3'

Posted On

2019-10-07