Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01390:Sf3b1'

79183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sf3b1

Ensembl Gene

ENSMUSG00000025982

Gene Name

splicing factor 3b, subunit 1

Synonyms

Prp10, SAP155, SF3b155, 2810001M05Rik, Targ4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01390

Quality Score

Status

Chromosome

Chromosomal Location

55024328-55066640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55026588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1274 (I1274V)

Ref Sequence

ENSEMBL: ENSMUSP00000027127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027127]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027127
AA Change: I1274V

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: I1274V

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	65	75	N/A	INTRINSIC
internal_repeat_1	185	276	1.77e-12	PROSPERO
Pfam:SF3b1	329	452	1.2e-51	PFAM
SCOP:d1qbkb_	489	1289	5e-62	SMART
Blast:ARM	593	637	6e-13	BLAST
Blast:ARM	1005	1044	7e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190175

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 1 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. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0a1	A	G	11: 100,934,628 (GRCm39)	K565R	probably benign	Het
Cacna2d3	T	C	14: 28,665,548 (GRCm39)	T158A	possibly damaging	Het
Dnah5	A	G	15: 28,411,686 (GRCm39)	D3685G	probably benign	Het
Dock1	T	C	7: 134,346,776 (GRCm39)	I236T	possibly damaging	Het
Dock6	A	G	9: 21,714,341 (GRCm39)	V1803A	probably damaging	Het
Epb41	T	C	4: 131,731,048 (GRCm39)	I178V	probably benign	Het
Gm10110	C	A	14: 90,135,677 (GRCm39)		noncoding transcript	Het
H2ac6	T	C	13: 23,867,499 (GRCm39)		probably benign	Het
Hoxb7	A	C	11: 96,177,837 (GRCm39)	N95T	probably benign	Het
Ikzf2	C	A	1: 69,609,801 (GRCm39)	C116F	probably damaging	Het
Ints8	A	T	4: 11,218,679 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,983 (GRCm39)	P311L	probably benign	Het
Man2a1	T	C	17: 65,017,700 (GRCm39)	Y649H	probably benign	Het
Mcm8	T	C	2: 132,679,998 (GRCm39)		probably benign	Het
Msi1	T	A	5: 115,576,780 (GRCm39)	D137E	possibly damaging	Het
Or8u10	T	C	2: 85,915,984 (GRCm39)	I46V	probably benign	Het
Pde6c	A	G	19: 38,150,376 (GRCm39)	Y507C	probably benign	Het
Prl7d1	A	G	13: 27,894,149 (GRCm39)	V140A	possibly damaging	Het
Rb1	T	A	14: 73,532,439 (GRCm39)	I132F	probably benign	Het
Rgl1	A	G	1: 152,447,339 (GRCm39)		probably benign	Het
Rpl18a	G	T	8: 71,348,154 (GRCm39)		probably benign	Het
Slc9a3	A	C	13: 74,298,880 (GRCm39)	I100L	probably benign	Het
Sorcs3	T	A	19: 48,778,570 (GRCm39)	Y996N	probably damaging	Het
Sra1	A	G	18: 36,803,134 (GRCm39)	L37P	probably damaging	Het
Stim1	A	G	7: 102,076,369 (GRCm39)	Q440R	possibly damaging	Het
Tacc3	C	T	5: 33,825,405 (GRCm39)		probably benign	Het
Tas2r104	T	A	6: 131,662,448 (GRCm39)	Y87F	probably benign	Het
Tbl2	T	C	5: 135,185,217 (GRCm39)		probably benign	Het
Vsig10l	C	T	7: 43,115,889 (GRCm39)	S410F	probably damaging	Het

Other mutations in Sf3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Sf3b1	APN	1	55,026,645 (GRCm39)	missense	probably damaging	1.00
IGL00815:Sf3b1	APN	1	55,036,090 (GRCm39)	splice site	probably benign
IGL01380:Sf3b1	APN	1	55,027,108 (GRCm39)	missense	probably damaging	1.00
IGL02974:Sf3b1	APN	1	55,046,866 (GRCm39)	missense	probably benign	0.00
IGL03159:Sf3b1	APN	1	55,051,372 (GRCm39)	missense	probably benign
Colt	UTSW	1	55,036,315 (GRCm39)	missense	probably benign	0.45
Glock	UTSW	1	55,040,205 (GRCm39)	missense	probably damaging	0.96
Handgun	UTSW	1	55,046,666 (GRCm39)	missense	probably damaging	1.00
Kalashnikov	UTSW	1	55,058,424 (GRCm39)	missense	probably damaging	0.99
Magazine	UTSW	1	55,051,341 (GRCm39)	nonsense	probably null
Revolver	UTSW	1	55,058,548 (GRCm39)	nonsense	probably null
R0053:Sf3b1	UTSW	1	55,039,532 (GRCm39)	nonsense	probably null
R0053:Sf3b1	UTSW	1	55,039,532 (GRCm39)	nonsense	probably null
R0190:Sf3b1	UTSW	1	55,029,465 (GRCm39)	missense	probably damaging	0.99
R0277:Sf3b1	UTSW	1	55,058,416 (GRCm39)	missense	probably damaging	0.99
R0323:Sf3b1	UTSW	1	55,058,416 (GRCm39)	missense	probably damaging	0.99
R0369:Sf3b1	UTSW	1	55,037,267 (GRCm39)	missense	probably benign	0.10
R0396:Sf3b1	UTSW	1	55,058,430 (GRCm39)	missense	probably damaging	1.00
R0718:Sf3b1	UTSW	1	55,058,544 (GRCm39)	missense	probably damaging	0.99
R0991:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1082:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1083:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1084:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1196:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1376:Sf3b1	UTSW	1	55,058,424 (GRCm39)	missense	probably damaging	0.99
R1376:Sf3b1	UTSW	1	55,058,424 (GRCm39)	missense	probably damaging	0.99
R1381:Sf3b1	UTSW	1	55,042,313 (GRCm39)	missense	probably damaging	0.99
R1436:Sf3b1	UTSW	1	55,040,580 (GRCm39)	missense	possibly damaging	0.72
R1559:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1560:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1561:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1567:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1568:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1588:Sf3b1	UTSW	1	55,036,336 (GRCm39)	missense	probably benign	0.05
R1625:Sf3b1	UTSW	1	55,058,536 (GRCm39)	missense	probably damaging	1.00
R1694:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	possibly damaging	0.89
R1735:Sf3b1	UTSW	1	55,039,811 (GRCm39)	missense	probably damaging	1.00
R1900:Sf3b1	UTSW	1	55,037,347 (GRCm39)	missense	possibly damaging	0.75
R2186:Sf3b1	UTSW	1	55,046,792 (GRCm39)	missense	probably benign
R2429:Sf3b1	UTSW	1	55,055,960 (GRCm39)	missense	possibly damaging	0.71
R2473:Sf3b1	UTSW	1	55,038,785 (GRCm39)	critical splice donor site	probably null
R3772:Sf3b1	UTSW	1	55,039,150 (GRCm39)	intron	probably benign
R3911:Sf3b1	UTSW	1	55,058,548 (GRCm39)	nonsense	probably null
R3970:Sf3b1	UTSW	1	55,051,341 (GRCm39)	nonsense	probably null
R4706:Sf3b1	UTSW	1	55,029,666 (GRCm39)	missense	probably damaging	1.00
R4707:Sf3b1	UTSW	1	55,029,666 (GRCm39)	missense	probably damaging	1.00
R4964:Sf3b1	UTSW	1	55,038,871 (GRCm39)	missense	probably benign
R5053:Sf3b1	UTSW	1	55,036,336 (GRCm39)	missense	probably benign	0.05
R5358:Sf3b1	UTSW	1	55,042,469 (GRCm39)	missense	probably benign	0.09
R5379:Sf3b1	UTSW	1	55,042,309 (GRCm39)	missense	possibly damaging	0.94
R5628:Sf3b1	UTSW	1	55,037,334 (GRCm39)	missense	probably benign	0.27
R5636:Sf3b1	UTSW	1	55,036,352 (GRCm39)	missense	probably damaging	1.00
R6013:Sf3b1	UTSW	1	55,039,457 (GRCm39)	missense	probably damaging	0.98
R6149:Sf3b1	UTSW	1	55,046,666 (GRCm39)	missense	probably damaging	1.00
R6217:Sf3b1	UTSW	1	55,046,677 (GRCm39)	missense	probably damaging	1.00
R6426:Sf3b1	UTSW	1	55,038,814 (GRCm39)	missense	probably benign	0.01
R6531:Sf3b1	UTSW	1	55,058,554 (GRCm39)	missense	probably damaging	0.99
R6945:Sf3b1	UTSW	1	55,036,315 (GRCm39)	missense	probably benign	0.45
R7001:Sf3b1	UTSW	1	55,053,640 (GRCm39)	critical splice donor site	probably null
R7001:Sf3b1	UTSW	1	55,040,205 (GRCm39)	missense	probably damaging	0.96
R7302:Sf3b1	UTSW	1	55,055,949 (GRCm39)	missense	probably benign	0.00
R7644:Sf3b1	UTSW	1	55,036,302 (GRCm39)	nonsense	probably null
R7664:Sf3b1	UTSW	1	55,026,626 (GRCm39)	missense	probably damaging	1.00
R7735:Sf3b1	UTSW	1	55,042,508 (GRCm39)	missense	probably benign	0.29
R7809:Sf3b1	UTSW	1	55,034,614 (GRCm39)	missense	possibly damaging	0.60
R8516:Sf3b1	UTSW	1	55,051,262 (GRCm39)	missense	probably null	0.01
R8871:Sf3b1	UTSW	1	55,029,508 (GRCm39)	missense	probably damaging	1.00
R8947:Sf3b1	UTSW	1	55,039,444 (GRCm39)	missense	probably damaging	1.00
R9216:Sf3b1	UTSW	1	55,051,376 (GRCm39)	missense	probably benign	0.00
Z1177:Sf3b1	UTSW	1	55,042,561 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-05