Incidental Mutation 'R7001:Sf3b1'
ID 544514
Institutional Source Beutler Lab
Gene Symbol Sf3b1
Ensembl Gene ENSMUSG00000025982
Gene Name splicing factor 3b, subunit 1
Synonyms Prp10, SAP155, SF3b155, 2810001M05Rik, Targ4
MMRRC Submission 045106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7001 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55024328-55066640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55040205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 591 (V591A)
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: V591A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: V591A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.8568 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,771,272 (GRCm39) Q154K probably benign Het
Aldh6a1 T G 12: 84,488,662 (GRCm39) T75P probably damaging Het
Ank2 T A 3: 126,871,230 (GRCm39) H98L probably damaging Het
Ankib1 A G 5: 3,744,781 (GRCm39) F800S probably benign Het
Arhgap10 A T 8: 78,091,717 (GRCm39) M434K possibly damaging Het
Cap1 A T 4: 122,758,408 (GRCm39) F257L probably benign Het
Cdt1 T A 8: 123,299,249 (GRCm39) H510Q probably damaging Het
Clca3b A C 3: 144,533,733 (GRCm39) D547E possibly damaging Het
Col24a1 T C 3: 145,004,627 (GRCm39) V35A probably benign Het
Cyp2j13 A T 4: 95,945,112 (GRCm39) N305K probably damaging Het
D3Ertd751e T A 3: 41,712,844 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Ddc T C 11: 11,774,870 (GRCm39) probably null Het
Dnah12 A T 14: 26,601,681 (GRCm39) Y3713F probably damaging Het
Dock8 T A 19: 25,077,041 (GRCm39) S504T probably benign Het
Farp2 T C 1: 93,547,906 (GRCm39) F941L possibly damaging Het
Farp2 A G 1: 93,547,952 (GRCm39) N956S possibly damaging Het
Fbxo3 T A 2: 103,881,569 (GRCm39) H300Q probably damaging Het
Fcgrt T C 7: 44,751,466 (GRCm39) T131A probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Frem1 T C 4: 82,904,798 (GRCm39) E890G probably benign Het
Fsip2 C A 2: 82,817,269 (GRCm39) P4334H probably damaging Het
Gcdh C A 8: 85,617,540 (GRCm39) V227L probably benign Het
Gm8267 A C 14: 44,960,385 (GRCm39) M120R possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Lasp1 T G 11: 97,697,659 (GRCm39) H26Q probably damaging Het
Lrrcc1 T A 3: 14,605,155 (GRCm39) I297N probably damaging Het
Map1b A T 13: 99,567,101 (GRCm39) N1873K unknown Het
Map2 A G 1: 66,454,646 (GRCm39) I1179V probably benign Het
Mtss1 A C 15: 58,820,183 (GRCm39) probably benign Het
Mtus2 A G 5: 148,214,438 (GRCm39) E28G probably damaging Het
Muc6 G A 7: 141,217,320 (GRCm39) T2386I probably damaging Het
Myo3a G T 2: 22,337,188 (GRCm39) V362L probably benign Het
N6amt1 G A 16: 87,151,180 (GRCm39) V14M probably benign Het
Nav1 A T 1: 135,382,349 (GRCm39) probably null Het
Nol6 A G 4: 41,121,279 (GRCm39) S326P probably benign Het
Olr1 T A 6: 129,465,074 (GRCm39) E100V probably damaging Het
Or52ab4 A G 7: 102,987,428 (GRCm39) S56G possibly damaging Het
Or8k37 A T 2: 86,469,495 (GRCm39) S186T probably benign Het
Otop3 T C 11: 115,230,479 (GRCm39) Y119H probably damaging Het
Prb1b C T 6: 132,289,527 (GRCm39) G99E unknown Het
Ryr2 A T 13: 11,809,491 (GRCm39) M778K probably damaging Het
Serpina3n G T 12: 104,375,184 (GRCm39) M85I probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Slc26a5 C T 5: 22,016,334 (GRCm39) V646I probably damaging Het
Slitrk3 T A 3: 72,957,942 (GRCm39) K277* probably null Het
Sv2c A G 13: 96,118,461 (GRCm39) S463P probably benign Het
Tbc1d4 G A 14: 101,696,185 (GRCm39) T858M probably benign Het
Tbx18 T A 9: 87,609,457 (GRCm39) I193F probably damaging Het
Tm6sf2 A C 8: 70,530,982 (GRCm39) D245A probably damaging Het
Unc119 T C 11: 78,239,380 (GRCm39) Y234H probably damaging Het
Wrn A T 8: 33,842,157 (GRCm39) S46T probably benign Het
Zfp729a A T 13: 67,768,468 (GRCm39) I587K probably benign Het
Zfp872 C A 9: 22,111,912 (GRCm39) H464N probably damaging Het
Other mutations in Sf3b1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTTTCGGACATATTCATCCATG -3'
(R):5'- TGGAATCTGGAAGTTGTTACTTTCC -3'

Sequencing Primer
(F):5'- TTCGGACATATTCATCCATGTTATC -3'
(R):5'- TGACCTGGAACTTAGTCCAGG -3'
Posted On 2019-05-13