Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00815:Sf3b1'

13998

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 #

IGL00815

Quality Score

Status

Chromosome

Chromosomal Location

55024328-55066640 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 55036090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 120,981,699 (GRCm39)		probably benign	Het
Arhgap20	A	G	9: 51,760,713 (GRCm39)	N819D	probably benign	Het
Cenpe	A	G	3: 134,965,112 (GRCm39)	I2061V	probably benign	Het
Chrna4	T	C	2: 180,671,184 (GRCm39)	I191V	probably benign	Het
Crim1	A	G	17: 78,677,520 (GRCm39)	E907G	probably damaging	Het
Cyp2d9	T	A	15: 82,340,576 (GRCm39)	D175E	possibly damaging	Het
Eml4	A	G	17: 83,758,219 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fam3c	A	T	6: 22,318,947 (GRCm39)	D151E	probably damaging	Het
Far1	G	A	7: 113,139,896 (GRCm39)	V115I	probably benign	Het
Gfap	T	C	11: 102,779,516 (GRCm39)	D427G	possibly damaging	Het
Hdac5	A	G	11: 102,088,168 (GRCm39)	F934S	probably damaging	Het
Hyou1	A	G	9: 44,296,443 (GRCm39)	E456G	probably benign	Het
Kl	G	A	5: 150,904,315 (GRCm39)	E356K	possibly damaging	Het
Morc1	T	C	16: 48,281,055 (GRCm39)	I198T	possibly damaging	Het
Mroh9	C	T	1: 162,866,700 (GRCm39)	V679M	probably damaging	Het
Pigr	T	A	1: 130,762,167 (GRCm39)	M1K	probably null	Het
Pkn3	C	A	2: 29,971,212 (GRCm39)	P260T	possibly damaging	Het
Pld5	T	G	1: 175,967,585 (GRCm39)	D28A	probably damaging	Het
Plekhg2	G	A	7: 28,060,294 (GRCm39)	Q1012*	probably null	Het
Ppp1ca	A	G	19: 4,243,143 (GRCm39)	I104V	probably benign	Het
Rad21l	A	G	2: 151,509,909 (GRCm39)	V64A	probably damaging	Het
Rbm20	A	G	19: 53,803,948 (GRCm39)	D427G	probably damaging	Het
Rev3l	A	G	10: 39,735,149 (GRCm39)	I2792V	possibly damaging	Het
Sec23a	C	T	12: 59,039,068 (GRCm39)	C248Y	possibly damaging	Het
Slc30a1	A	G	1: 191,641,191 (GRCm39)	N279S	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spic	T	C	10: 88,511,729 (GRCm39)	N176D	probably damaging	Het
Tlk2	C	T	11: 105,137,621 (GRCm39)	Q184*	probably null	Het
Tpm4	T	C	8: 72,897,347 (GRCm39)	I107T	probably benign	Het
Ttll11	A	T	2: 35,792,732 (GRCm39)	C186*	probably null	Het
Txlnb	A	T	10: 17,718,711 (GRCm39)	H514L	probably damaging	Het
Zfpm2	T	A	15: 40,962,887 (GRCm39)	M183K	probably benign	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
IGL01380:Sf3b1	APN	1	55,027,108 (GRCm39)	missense	probably damaging	1.00
IGL01390:Sf3b1	APN	1	55,026,588 (GRCm39)	missense	probably benign	0.17
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

2012-12-06