Mutagenetix > Incidental Mutation

Incidental Mutation 'R4707:Sf3b1'

355272

Institutional Source

Beutler Lab

Gene Symbol

Sf3b1

Ensembl Gene

ENSMUSG00000025982

Gene Name

splicing factor 3b, subunit 1

Synonyms

Targ4, SAP155, Prp10, 2810001M05Rik, SF3b155

MMRRC Submission

041955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4707 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54985169-55027481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54990507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1112 (T1112M)

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: T1112M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: T1112M

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,005,712 (GRCm38)	K450R	probably damaging	Het
Abcd2	T	C	15: 91,159,182 (GRCm38)	D601G	probably benign	Het
Abcf3	A	G	16: 20,549,058 (GRCm38)	K56E	possibly damaging	Het
Acaca	T	C	11: 84,312,854 (GRCm38)	V1477A	probably damaging	Het
Adamts20	G	A	15: 94,333,647 (GRCm38)	P887L	possibly damaging	Het
Ahnak	T	G	19: 9,016,735 (GRCm38)	S5128A	probably benign	Het
Ahsa2	C	A	11: 23,493,162 (GRCm38)	V197F	probably benign	Het
Ak9	C	A	10: 41,345,460 (GRCm38)	H402N	probably benign	Het
Alpk1	G	T	3: 127,687,592 (GRCm38)	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313 (GRCm38)	V295A	probably benign	Het
Ankrd16	A	G	2: 11,778,797 (GRCm38)	D70G	probably damaging	Het
Apob	A	T	12: 8,006,205 (GRCm38)	K1562N	probably damaging	Het
Arfgap2	C	A	2: 91,269,971 (GRCm38)	S250R	probably damaging	Het
Arhgef10l	C	T	4: 140,536,883 (GRCm38)	M671I	possibly damaging	Het
Atrnl1	A	G	19: 57,629,158 (GRCm38)	I122V	probably damaging	Het
B4galnt2	C	T	11: 95,876,097 (GRCm38)		probably null	Het
C8a	A	G	4: 104,856,421 (GRCm38)	Y171H	probably damaging	Het
Cacnb4	A	G	2: 52,474,915 (GRCm38)	V112A	probably benign	Het
Capn9	G	T	8: 124,613,456 (GRCm38)	C566F	possibly damaging	Het
Ccdc88a	T	A	11: 29,447,956 (GRCm38)	S230T	probably benign	Het
Cd300c2	A	T	11: 114,996,985 (GRCm38)	F197Y	probably benign	Het
Chd5	A	G	4: 152,360,582 (GRCm38)	Y340C	probably damaging	Het
Chrd	A	T	16: 20,738,808 (GRCm38)	I726F	possibly damaging	Het
Chrna10	G	A	7: 102,113,219 (GRCm38)	P255S	possibly damaging	Het
Clasp1	T	A	1: 118,543,197 (GRCm38)	Y197*	probably null	Het
Cyp2c69	C	G	19: 39,849,408 (GRCm38)	G410A	probably benign	Het
Cyp2e1	G	A	7: 140,763,908 (GRCm38)	V20I	possibly damaging	Het
Dapp1	T	C	3: 137,933,167 (GRCm38)	D225G	probably benign	Het
Dnah5	A	T	15: 28,372,375 (GRCm38)	D2924V	probably damaging	Het
Efcab12	A	T	6: 115,814,549 (GRCm38)	L554Q	possibly damaging	Het
Emsy	T	C	7: 98,597,104 (GRCm38)	T228A	possibly damaging	Het
Evc2	G	A	5: 37,421,860 (GRCm38)	V1106I	probably benign	Het
Exoc8	G	T	8: 124,897,470 (GRCm38)	Q53K	possibly damaging	Het
Fam160a1	G	T	3: 85,688,570 (GRCm38)	T115K	probably damaging	Het
Fbn2	A	T	18: 58,056,272 (GRCm38)	V1594D	probably damaging	Het
Fer1l4	T	C	2: 156,045,623 (GRCm38)	Y551C	possibly damaging	Het
Fmnl3	A	G	15: 99,323,481 (GRCm38)	M481T	probably benign	Het
Fras1	A	G	5: 96,735,238 (GRCm38)	N2543S	probably damaging	Het
Fsd2	T	C	7: 81,559,680 (GRCm38)	D138G	probably damaging	Het
Gda	C	T	19: 21,428,628 (GRCm38)	V5I	probably benign	Het
Glt8d2	A	T	10: 82,660,749 (GRCm38)	D158E	probably damaging	Het
Gpx6	C	T	13: 21,312,264 (GRCm38)	Q3*	probably null	Het
Greb1l	A	G	18: 10,532,922 (GRCm38)	M830V	probably benign	Het
Hnrnpul1	A	C	7: 25,726,833 (GRCm38)	V531G	probably damaging	Het
Ifi206	A	T	1: 173,480,866 (GRCm38)	H521Q	probably benign	Het
Igsf3	G	C	3: 101,458,094 (GRCm38)	R1127P	probably benign	Het
Il1rl1	A	G	1: 40,450,188 (GRCm38)	R367G	probably damaging	Het
Islr	T	C	9: 58,157,687 (GRCm38)	D179G	possibly damaging	Het
Jcad	G	T	18: 4,649,338 (GRCm38)	E70*	probably null	Het
Kcnd2	T	C	6: 21,723,212 (GRCm38)	I467T	probably benign	Het
Lrrc27	A	G	7: 139,242,698 (GRCm38)	T502A	probably benign	Het
Lrrtm3	T	A	10: 64,088,002 (GRCm38)	H462L	probably benign	Het
Mbd5	T	C	2: 49,250,156 (GRCm38)	L44S	probably damaging	Het
Mccc1	C	A	3: 35,975,873 (GRCm38)	M429I	probably damaging	Het
Mgam	A	T	6: 40,714,632 (GRCm38)		probably null	Het
Mipep	T	A	14: 60,872,103 (GRCm38)	I643N	probably damaging	Het
Mmrn1	A	T	6: 60,988,473 (GRCm38)	I1162L	probably benign	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Mug1	G	A	6: 121,884,641 (GRCm38)	C1354Y	probably damaging	Het
Nbeal2	A	T	9: 110,632,055 (GRCm38)	S1647T	probably benign	Het
Ndufaf2	C	G	13: 108,052,780 (GRCm38)	A145P	probably damaging	Het
Nedd9	A	T	13: 41,338,575 (GRCm38)		probably null	Het
Nr4a2	T	A	2: 57,112,093 (GRCm38)	H116L	probably benign	Het
Nwd2	A	G	5: 63,794,322 (GRCm38)	Y232C	probably damaging	Het
Odf4	A	G	11: 68,926,688 (GRCm38)	L58P	probably damaging	Het
Olfr1197	T	A	2: 88,728,712 (GRCm38)	M296L	possibly damaging	Het
Olfr1221	A	T	2: 89,112,232 (GRCm38)	F93L	probably damaging	Het
Olfr1284	T	A	2: 111,379,645 (GRCm38)	L215H	probably damaging	Het
Olfr284	G	T	15: 98,340,778 (GRCm38)	H70Q	possibly damaging	Het
Olfr434	T	A	6: 43,216,949 (GRCm38)	V12D	probably benign	Het
Olfr58	C	T	9: 19,783,300 (GRCm38)	H18Y	probably damaging	Het
Olfr938	A	G	9: 39,078,262 (GRCm38)	V161A	probably benign	Het
Orc6	T	A	8: 85,302,950 (GRCm38)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,267,846 (GRCm38)	T1798A	probably benign	Het
Prdx6b	T	C	2: 80,293,060 (GRCm38)	L71P	probably damaging	Het
Prmt2	A	G	10: 76,226,221 (GRCm38)	I50T	probably damaging	Het
Ptdss1	T	C	13: 66,995,418 (GRCm38)		probably null	Het
Pygl	T	C	12: 70,207,758 (GRCm38)	T138A	possibly damaging	Het
Rab3c	T	C	13: 110,061,900 (GRCm38)	E198G	probably benign	Het
Rbl2	A	G	8: 91,085,568 (GRCm38)	Y255C	probably damaging	Het
Rev3l	T	A	10: 39,823,397 (GRCm38)	S1297T	probably damaging	Het
Rgma	C	A	7: 73,417,816 (GRCm38)	T367K	probably damaging	Het
Rps6ka5	C	T	12: 100,597,885 (GRCm38)		probably null	Het
Rslcan18	A	T	13: 67,098,526 (GRCm38)	C217S	probably damaging	Het
Rtp3	A	G	9: 110,986,211 (GRCm38)		probably benign	Het
Ryr1	A	T	7: 29,045,662 (GRCm38)	N3848K	probably damaging	Het
Sema6a	T	A	18: 47,248,712 (GRCm38)	T923S	probably benign	Het
Serpinb6d	A	T	13: 33,671,353 (GRCm38)	T337S	possibly damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sidt1	A	T	16: 44,269,858 (GRCm38)	Y369*	probably null	Het
Slc16a6	A	G	11: 109,463,367 (GRCm38)	S59P	probably benign	Het
Slc25a17	A	C	15: 81,327,326 (GRCm38)	L163W	probably damaging	Het
Slc44a3	T	C	3: 121,527,074 (GRCm38)	T93A	possibly damaging	Het
Sptbn1	T	C	11: 30,137,197 (GRCm38)	T1081A	possibly damaging	Het
Sptbn4	T	C	7: 27,417,006 (GRCm38)	D456G	probably benign	Het
Sycp1	C	A	3: 102,853,489 (GRCm38)	A703S	possibly damaging	Het
Tas2r118	T	A	6: 23,969,226 (GRCm38)	M279L	probably benign	Het
Tc2n	T	G	12: 101,694,573 (GRCm38)	Q133H	probably benign	Het
Tctn1	A	G	5: 122,261,405 (GRCm38)		probably null	Het
Tenm4	A	C	7: 96,774,046 (GRCm38)	K683Q	probably damaging	Het
Tex10	A	T	4: 48,468,984 (GRCm38)	S64T	probably benign	Het
Tex15	A	G	8: 33,582,497 (GRCm38)	T2691A	probably benign	Het
Tmem175	A	T	5: 108,642,150 (GRCm38)	T123S	probably damaging	Het
Tsc1	C	A	2: 28,672,407 (GRCm38)	S348R	probably damaging	Het
Ttll4	A	T	1: 74,679,007 (GRCm38)	T6S	possibly damaging	Het
Ttll8	A	T	15: 88,917,090 (GRCm38)	I465N	probably damaging	Het
Ubr3	A	G	2: 69,938,370 (GRCm38)		probably benign	Het
Ugdh	A	T	5: 65,423,352 (GRCm38)		probably null	Het
Usp34	T	C	11: 23,487,215 (GRCm38)	L3326S	probably damaging	Het
Vmn2r125	A	T	4: 156,349,981 (GRCm38)	I21F	probably damaging	Het
Vps9d1	G	A	8: 123,248,612 (GRCm38)		probably benign	Het
Xab2	G	A	8: 3,618,117 (GRCm38)	R154C	possibly damaging	Het
Zbtb12	T	C	17: 34,895,499 (GRCm38)	S87P	probably damaging	Het
Zc3h12a	A	G	4: 125,120,893 (GRCm38)	M266T	probably damaging	Het
Zfp108	G	A	7: 24,260,412 (GRCm38)	A143T	probably benign	Het

Other mutations in Sf3b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Sf3b1	APN	1	54,987,486 (GRCm38)	missense	probably damaging	1.00
IGL00815:Sf3b1	APN	1	54,996,931 (GRCm38)	splice site	probably benign
IGL01380:Sf3b1	APN	1	54,987,949 (GRCm38)	missense	probably damaging	1.00
IGL01390:Sf3b1	APN	1	54,987,429 (GRCm38)	missense	probably benign	0.17
IGL02974:Sf3b1	APN	1	55,007,707 (GRCm38)	missense	probably benign	0.00
IGL03159:Sf3b1	APN	1	55,012,213 (GRCm38)	missense	probably benign
Colt	UTSW	1	54,997,156 (GRCm38)	missense	probably benign	0.45
Glock	UTSW	1	55,001,046 (GRCm38)	missense	probably damaging	0.96
Handgun	UTSW	1	55,007,507 (GRCm38)	missense	probably damaging	1.00
Kalashnikov	UTSW	1	55,019,265 (GRCm38)	missense	probably damaging	0.99
Magazine	UTSW	1	55,012,182 (GRCm38)	nonsense	probably null
Revolver	UTSW	1	55,019,389 (GRCm38)	nonsense	probably null
R0053:Sf3b1	UTSW	1	55,000,373 (GRCm38)	nonsense	probably null
R0053:Sf3b1	UTSW	1	55,000,373 (GRCm38)	nonsense	probably null
R0190:Sf3b1	UTSW	1	54,990,306 (GRCm38)	missense	probably damaging	0.99
R0277:Sf3b1	UTSW	1	55,019,257 (GRCm38)	missense	probably damaging	0.99
R0323:Sf3b1	UTSW	1	55,019,257 (GRCm38)	missense	probably damaging	0.99
R0369:Sf3b1	UTSW	1	54,998,108 (GRCm38)	missense	probably benign	0.10
R0396:Sf3b1	UTSW	1	55,019,271 (GRCm38)	missense	probably damaging	1.00
R0718:Sf3b1	UTSW	1	55,019,385 (GRCm38)	missense	probably damaging	0.99
R0991:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1082:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1083:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1084:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1196:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1376:Sf3b1	UTSW	1	55,019,265 (GRCm38)	missense	probably damaging	0.99
R1376:Sf3b1	UTSW	1	55,019,265 (GRCm38)	missense	probably damaging	0.99
R1381:Sf3b1	UTSW	1	55,003,154 (GRCm38)	missense	probably damaging	0.99
R1436:Sf3b1	UTSW	1	55,001,421 (GRCm38)	missense	possibly damaging	0.72
R1559:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1560:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1561:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1567:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1568:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1588:Sf3b1	UTSW	1	54,997,177 (GRCm38)	missense	probably benign	0.05
R1625:Sf3b1	UTSW	1	55,019,377 (GRCm38)	missense	probably damaging	1.00
R1694:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	possibly damaging	0.89
R1735:Sf3b1	UTSW	1	55,000,652 (GRCm38)	missense	probably damaging	1.00
R1900:Sf3b1	UTSW	1	54,998,188 (GRCm38)	missense	possibly damaging	0.75
R2186:Sf3b1	UTSW	1	55,007,633 (GRCm38)	missense	probably benign
R2429:Sf3b1	UTSW	1	55,016,801 (GRCm38)	missense	possibly damaging	0.71
R2473:Sf3b1	UTSW	1	54,999,626 (GRCm38)	critical splice donor site	probably null
R3772:Sf3b1	UTSW	1	54,999,991 (GRCm38)	intron	probably benign
R3911:Sf3b1	UTSW	1	55,019,389 (GRCm38)	nonsense	probably null
R3970:Sf3b1	UTSW	1	55,012,182 (GRCm38)	nonsense	probably null
R4706:Sf3b1	UTSW	1	54,990,507 (GRCm38)	missense	probably damaging	1.00
R4964:Sf3b1	UTSW	1	54,999,712 (GRCm38)	missense	probably benign
R5053:Sf3b1	UTSW	1	54,997,177 (GRCm38)	missense	probably benign	0.05
R5358:Sf3b1	UTSW	1	55,003,310 (GRCm38)	missense	probably benign	0.09
R5379:Sf3b1	UTSW	1	55,003,150 (GRCm38)	missense	possibly damaging	0.94
R5628:Sf3b1	UTSW	1	54,998,175 (GRCm38)	missense	probably benign	0.27
R5636:Sf3b1	UTSW	1	54,997,193 (GRCm38)	missense	probably damaging	1.00
R6013:Sf3b1	UTSW	1	55,000,298 (GRCm38)	missense	probably damaging	0.98
R6149:Sf3b1	UTSW	1	55,007,507 (GRCm38)	missense	probably damaging	1.00
R6217:Sf3b1	UTSW	1	55,007,518 (GRCm38)	missense	probably damaging	1.00
R6426:Sf3b1	UTSW	1	54,999,655 (GRCm38)	missense	probably benign	0.01
R6531:Sf3b1	UTSW	1	55,019,395 (GRCm38)	missense	probably damaging	0.99
R6945:Sf3b1	UTSW	1	54,997,156 (GRCm38)	missense	probably benign	0.45
R7001:Sf3b1	UTSW	1	55,014,481 (GRCm38)	critical splice donor site	probably null
R7001:Sf3b1	UTSW	1	55,001,046 (GRCm38)	missense	probably damaging	0.96
R7302:Sf3b1	UTSW	1	55,016,790 (GRCm38)	missense	probably benign	0.00
R7644:Sf3b1	UTSW	1	54,997,143 (GRCm38)	nonsense	probably null
R7664:Sf3b1	UTSW	1	54,987,467 (GRCm38)	missense	probably damaging	1.00
R7735:Sf3b1	UTSW	1	55,003,349 (GRCm38)	missense	probably benign	0.29
R7809:Sf3b1	UTSW	1	54,995,455 (GRCm38)	missense	possibly damaging	0.60
R8516:Sf3b1	UTSW	1	55,012,103 (GRCm38)	missense	probably null	0.01
R8871:Sf3b1	UTSW	1	54,990,349 (GRCm38)	missense	probably damaging	1.00
R8947:Sf3b1	UTSW	1	55,000,285 (GRCm38)	missense	probably damaging	1.00
R9216:Sf3b1	UTSW	1	55,012,217 (GRCm38)	missense	probably benign	0.00
Z1177:Sf3b1	UTSW	1	55,003,402 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTAACGCATCCTCAAGTAAAGGC -3'
(R):5'- GGAAGTTGTAATGACATCCTTTAGTG -3'

Sequencing Primer
(F):5'- GCGTCACAGCATAGATGTAGTCTTTC -3'
(R):5'- CCATTCGCTTGCAGGTT -3'

Posted On

2015-10-21