Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Sf3b3'

204963

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

039860-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111537123-111573578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111544198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 814 (Q814L)

Ref Sequence

ENSEMBL: ENSMUSP00000045073 (fasta)

Gene Model

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

AlphaFold

Q921M3

Predicted Effect

probably benign
Transcript: ENSMUST00000042012
AA Change: Q814L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: Q814L

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

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,747,005 (GRCm39)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dhx16	A	G	17: 36,196,511 (GRCm39)	T560A	probably benign	Het
Dusp12	T	C	1: 170,702,022 (GRCm39)	M326V	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Qsox1	C	T	1: 155,666,791 (GRCm39)	G233S	probably benign	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	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
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
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'- TTTGTTTAAAGGTCCTAGAAAGGGG -3'
(R):5'- GTGAGCCAACACCTTTAACTC -3'

Sequencing Primer
(F):5'- TTAAGAGTTCCTGGCAAGCC -3'
(R):5'- GTGAGCCAACACCTTTAACTCTCTTG -3'

Posted On

2014-06-23