Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00754:Sf3b1'

13997

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 #

IGL00754

Quality Score

Status

Chromosome

Chromosomal Location

55024328-55066640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55026645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1255 (F1255L)

Ref Sequence

ENSEMBL: ENSMUSP00000027127 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027127
AA Change: F1255L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: F1255L

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
Ahi1	G	A	10: 20,848,040 (GRCm39)	G483R	probably damaging	Het
Ano1	T	C	7: 144,150,968 (GRCm39)	I816V	probably damaging	Het
Aprt	T	C	8: 123,302,232 (GRCm39)	Q77R	probably benign	Het
Bcas3	T	A	11: 85,386,649 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,641,036 (GRCm39)	M697V	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Chrnd	A	C	1: 87,123,506 (GRCm39)	E348A	probably benign	Het
Ctnnbl1	A	T	2: 157,661,461 (GRCm39)	S324C	possibly damaging	Het
Dgkb	C	A	12: 38,488,567 (GRCm39)	N644K	probably benign	Het
Dnajc13	A	T	9: 104,051,697 (GRCm39)	L1720*	probably null	Het
Ehbp1	A	G	11: 22,197,967 (GRCm39)		probably benign	Het
Eif1b	G	T	9: 120,323,686 (GRCm39)	C94F	probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Gm28042	G	A	2: 119,860,837 (GRCm39)	G96R	probably damaging	Het
Hcrtr1	A	G	4: 130,031,026 (GRCm39)	V86A	probably damaging	Het
Klrc3	A	T	6: 129,618,389 (GRCm39)	S131R	probably damaging	Het
Mboat4	A	G	8: 34,591,708 (GRCm39)	T382A	probably benign	Het
Oosp1	A	T	19: 11,645,069 (GRCm39)	H198Q	possibly damaging	Het
Parp14	T	C	16: 35,659,741 (GRCm39)	D1627G	probably benign	Het
Pdcd11	T	A	19: 47,092,221 (GRCm39)	F406I	possibly damaging	Het
Ppara	T	C	15: 85,661,843 (GRCm39)	L28S	probably damaging	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Stard6	T	A	18: 70,616,559 (GRCm39)	S73T	probably benign	Het
Tnip2	T	C	5: 34,656,643 (GRCm39)	I221V	probably benign	Het
Ttn	A	G	2: 76,612,429 (GRCm39)	I8859T	possibly damaging	Het
Ube3b	T	C	5: 114,553,348 (GRCm39)	S907P	possibly damaging	Het
Utp25	G	T	1: 192,797,309 (GRCm39)	N514K	probably damaging	Het
Utrn	A	G	10: 12,539,236 (GRCm39)	V1927A	probably benign	Het
Zfp945	T	C	17: 23,070,931 (GRCm39)		probably benign	Het

Other mutations in Sf3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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