Incidental Mutation 'R3236:Sf3b3'
ID 259030
Institutional Source Beutler Lab
Gene Symbol Sf3b3
Ensembl Gene ENSMUSG00000033732
Gene Name splicing factor 3b, subunit 3
Synonyms SAP130, 5730409A01Rik, 1810061H24Rik, D8Ertd633e, RSE1
MMRRC Submission 040618-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R3236 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111537123-111573578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111538652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1123 (S1123P)
Ref Sequence ENSEMBL: ENSMUSP00000045073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042012]
AlphaFold Q921M3
Predicted Effect probably damaging
Transcript: ENSMUST00000042012
AA Change: S1123P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: S1123P

DomainStartEndE-ValueType
Blast:SH3 17 70 5e-13 BLAST
Pfam:MMS1_N 76 592 3.2e-185 PFAM
low complexity region 716 728 N/A INTRINSIC
Pfam:CPSF_A 863 1184 4.3e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157018
Meta Mutation Damage Score 0.5351 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 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. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
5730455P16Rik G A 11: 80,258,996 (GRCm39) L255F probably damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Armh3 A T 19: 45,963,722 (GRCm39) probably benign Het
Atm T A 9: 53,391,048 (GRCm39) D1842V probably benign Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccdc88a A G 11: 29,397,995 (GRCm39) T243A possibly damaging Het
Col5a3 G T 9: 20,718,949 (GRCm39) N268K unknown Het
Col6a1 G A 10: 76,547,154 (GRCm39) T737M unknown Het
Cyp3a25 T C 5: 145,939,938 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Ecm1 G T 3: 95,642,158 (GRCm39) Q476K possibly damaging Het
Eml6 A G 11: 29,781,097 (GRCm39) probably null Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
Gm5478 A G 15: 101,552,738 (GRCm39) Y398H probably damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hk1 T C 10: 62,131,798 (GRCm39) probably null Het
Kdm6b A G 11: 69,297,192 (GRCm39) Y387H probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lrig3 G A 10: 125,833,056 (GRCm39) C310Y probably damaging Het
Map6 T A 7: 98,986,031 (GRCm39) V645E probably damaging Het
Memo1 A T 17: 74,509,347 (GRCm39) I224K probably damaging Het
Morc2a T C 11: 3,633,612 (GRCm39) I602T probably benign Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Ndrg3 T A 2: 156,785,957 (GRCm39) I161F probably damaging Het
Notch3 T C 17: 32,377,435 (GRCm39) R214G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or14j10 T C 17: 37,935,127 (GRCm39) E133G possibly damaging Het
Or4p7 T C 2: 88,221,750 (GRCm39) I53T probably benign Het
Pdgfra T C 5: 75,328,597 (GRCm39) V243A probably damaging Het
Piwil4 A G 9: 14,611,544 (GRCm39) probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pon2 A T 6: 5,266,986 (GRCm39) N252K possibly damaging Het
Ptf1a T C 2: 19,450,718 (GRCm39) F16S probably damaging Het
Rasgrp1 A G 2: 117,122,293 (GRCm39) Y366H probably benign Het
Rbfox1 G A 16: 7,225,892 (GRCm39) V353I possibly damaging Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf4 T A 16: 90,057,105 (GRCm39) D82V unknown Het
Serhl C A 15: 82,988,604 (GRCm39) P177Q probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Slc1a3 T C 15: 8,668,607 (GRCm39) I453V probably damaging Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Snrnp200 T A 2: 127,063,802 (GRCm39) D660E probably damaging Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
Speer4e1 T A 5: 14,984,939 (GRCm39) E206D possibly damaging Het
Stard6 T A 18: 70,633,557 (GRCm39) M188K probably damaging Het
Stat6 G A 10: 127,488,091 (GRCm39) V282I possibly damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Thsd4 C A 9: 60,301,670 (GRCm39) K208N probably benign Het
Thsd7b C T 1: 130,145,855 (GRCm39) Q1588* probably null Het
Tmem167 C T 13: 90,252,499 (GRCm39) R52C probably benign Het
Ttn T C 2: 76,729,753 (GRCm39) probably benign Het
Usp39 G A 6: 72,315,372 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r24 C T 6: 123,755,984 (GRCm39) Q19* probably null Het
Vps13b G A 15: 35,910,450 (GRCm39) E3405K probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging Het
Other mutations in Sf3b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Sf3b3 APN 8 111,540,383 (GRCm39) nonsense probably null
IGL00770:Sf3b3 APN 8 111,544,270 (GRCm39) missense probably damaging 0.96
IGL00774:Sf3b3 APN 8 111,544,270 (GRCm39) missense probably damaging 0.96
IGL01132:Sf3b3 APN 8 111,569,413 (GRCm39) missense probably benign
IGL01487:Sf3b3 APN 8 111,544,292 (GRCm39) missense probably benign 0.01
IGL02015:Sf3b3 APN 8 111,542,922 (GRCm39) missense possibly damaging 0.82
IGL02126:Sf3b3 APN 8 111,550,075 (GRCm39) missense probably benign
IGL02612:Sf3b3 APN 8 111,569,608 (GRCm39) missense probably benign
IGL02833:Sf3b3 APN 8 111,538,609 (GRCm39) critical splice donor site probably null
IGL03033:Sf3b3 APN 8 111,537,596 (GRCm39) missense possibly damaging 0.62
IGL03366:Sf3b3 APN 8 111,566,586 (GRCm39) missense probably damaging 1.00
R0458:Sf3b3 UTSW 8 111,538,768 (GRCm39) splice site probably benign
R0907:Sf3b3 UTSW 8 111,538,142 (GRCm39) splice site probably benign
R1344:Sf3b3 UTSW 8 111,564,935 (GRCm39) missense probably damaging 0.98
R1468:Sf3b3 UTSW 8 111,564,006 (GRCm39) missense probably damaging 1.00
R1468:Sf3b3 UTSW 8 111,564,006 (GRCm39) missense probably damaging 1.00
R1736:Sf3b3 UTSW 8 111,540,464 (GRCm39) missense probably benign
R1833:Sf3b3 UTSW 8 111,544,198 (GRCm39) missense probably benign
R2225:Sf3b3 UTSW 8 111,541,205 (GRCm39) missense probably damaging 1.00
R3615:Sf3b3 UTSW 8 111,571,155 (GRCm39) missense probably damaging 1.00
R3616:Sf3b3 UTSW 8 111,571,155 (GRCm39) missense probably damaging 1.00
R3683:Sf3b3 UTSW 8 111,540,253 (GRCm39) critical splice donor site probably null
R4197:Sf3b3 UTSW 8 111,548,197 (GRCm39) missense probably damaging 0.98
R4429:Sf3b3 UTSW 8 111,552,750 (GRCm39) missense probably benign 0.01
R4674:Sf3b3 UTSW 8 111,571,137 (GRCm39) missense probably damaging 0.99
R4895:Sf3b3 UTSW 8 111,542,656 (GRCm39) missense probably benign 0.00
R4931:Sf3b3 UTSW 8 111,542,961 (GRCm39) missense probably benign 0.00
R4948:Sf3b3 UTSW 8 111,540,301 (GRCm39) missense probably damaging 0.99
R4999:Sf3b3 UTSW 8 111,567,835 (GRCm39) missense probably benign 0.34
R5150:Sf3b3 UTSW 8 111,550,008 (GRCm39) missense possibly damaging 0.88
R5175:Sf3b3 UTSW 8 111,560,467 (GRCm39) missense probably benign
R5559:Sf3b3 UTSW 8 111,564,847 (GRCm39) missense probably benign 0.00
R5866:Sf3b3 UTSW 8 111,541,266 (GRCm39) missense probably benign
R5934:Sf3b3 UTSW 8 111,550,102 (GRCm39) missense probably damaging 0.99
R6270:Sf3b3 UTSW 8 111,568,452 (GRCm39) missense probably damaging 1.00
R6803:Sf3b3 UTSW 8 111,552,210 (GRCm39) missense probably benign 0.01
R7078:Sf3b3 UTSW 8 111,539,639 (GRCm39) missense possibly damaging 0.90
R7252:Sf3b3 UTSW 8 111,566,562 (GRCm39) missense probably damaging 0.99
R7467:Sf3b3 UTSW 8 111,538,088 (GRCm39) missense possibly damaging 0.89
R7523:Sf3b3 UTSW 8 111,540,352 (GRCm39) missense probably benign 0.35
R7544:Sf3b3 UTSW 8 111,564,915 (GRCm39) missense probably benign 0.01
R7638:Sf3b3 UTSW 8 111,547,445 (GRCm39) missense probably damaging 1.00
R7934:Sf3b3 UTSW 8 111,548,162 (GRCm39) missense probably benign 0.05
R7973:Sf3b3 UTSW 8 111,542,922 (GRCm39) missense possibly damaging 0.82
R8141:Sf3b3 UTSW 8 111,547,483 (GRCm39) missense possibly damaging 0.87
R8745:Sf3b3 UTSW 8 111,550,816 (GRCm39) missense possibly damaging 0.94
R8914:Sf3b3 UTSW 8 111,540,439 (GRCm39) missense probably benign
R8948:Sf3b3 UTSW 8 111,550,075 (GRCm39) missense probably benign
R9269:Sf3b3 UTSW 8 111,538,658 (GRCm39) missense probably damaging 0.99
R9339:Sf3b3 UTSW 8 111,542,854 (GRCm39) missense probably benign
R9445:Sf3b3 UTSW 8 111,552,774 (GRCm39) missense possibly damaging 0.54
X0024:Sf3b3 UTSW 8 111,569,564 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GCTTTGGGGTCATAATACAACC -3'
(R):5'- CCTGGGAGCTCTTAGGGAATAC -3'

Sequencing Primer
(F):5'- CTTCCTAAAAGAACGCAGGATTCTG -3'
(R):5'- CTCTTAGGGAATACAGAAGAGAACTG -3'
Posted On 2015-01-23