Incidental Mutation 'R4999:Sf3b3'
ID 389742
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 042593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4999 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 111537123-111573578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111567835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
Ref Sequence ENSEMBL: ENSMUSP00000045073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042012]
AlphaFold Q921M3
Predicted Effect probably benign
Transcript: ENSMUST00000042012
AA Change: T207A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: T207A

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: ENSMUST00000116746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212843
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A G 1: 16,139,022 (GRCm39) probably null Het
Abca4 T A 3: 121,899,019 (GRCm39) V667D probably damaging Het
Aco1 A G 4: 40,176,507 (GRCm39) I224V probably damaging Het
Arel1 C T 12: 84,978,541 (GRCm39) V364M probably damaging Het
Arhgap42 A G 9: 9,009,435 (GRCm39) V484A probably damaging Het
Asap2 T C 12: 21,302,766 (GRCm39) F681L probably benign Het
Atrn C A 2: 130,817,874 (GRCm39) D809E probably damaging Het
Ccdc70 G A 8: 22,463,266 (GRCm39) V19M possibly damaging Het
Ccp110 G T 7: 118,329,235 (GRCm39) E73* probably null Het
Cfap57 A C 4: 118,453,045 (GRCm39) S553A probably benign Het
Cftr A G 6: 18,221,613 (GRCm39) K212E probably benign Het
Chkb A T 15: 89,312,368 (GRCm39) Y216N probably damaging Het
Cntnap2 G T 6: 45,897,768 (GRCm39) D149Y probably damaging Het
Cpd A G 11: 76,737,048 (GRCm39) probably null Het
Creb3l1 C T 2: 91,813,571 (GRCm39) D489N probably benign Het
Crhbp A G 13: 95,578,753 (GRCm39) F123L probably damaging Het
Cryab T C 9: 50,665,909 (GRCm39) V100A possibly damaging Het
Csmd2 T C 4: 128,415,723 (GRCm39) I2684T probably benign Het
Ctbp2 G T 7: 132,616,378 (GRCm39) P186T possibly damaging Het
Ctnna2 T C 6: 76,892,745 (GRCm39) N814S possibly damaging Het
Dntt T C 19: 41,028,295 (GRCm39) V197A probably damaging Het
Fam135a G A 1: 24,059,758 (GRCm39) A1187V possibly damaging Het
Filip1l A T 16: 57,390,778 (GRCm39) Q455H probably benign Het
Grm2 T C 9: 106,531,189 (GRCm39) E100G probably damaging Het
Gtf2ird2 G A 5: 134,246,306 (GRCm39) V855M probably damaging Het
Heatr9 A T 11: 83,409,618 (GRCm39) I118N possibly damaging Het
Htra3 T C 5: 35,828,469 (GRCm39) H137R probably benign Het
Iars1 A G 13: 49,863,137 (GRCm39) S530G probably damaging Het
Klhdc4 T A 8: 122,523,342 (GRCm39) M510L probably benign Het
Lipc T C 9: 70,724,013 (GRCm39) T204A probably benign Het
Lrp1 A G 10: 127,389,648 (GRCm39) V3129A probably damaging Het
Macf1 G A 4: 123,388,702 (GRCm39) T1120I probably benign Het
Maco1 A G 4: 134,555,444 (GRCm39) I343T probably benign Het
Map4 T C 9: 109,867,445 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,260,087 (GRCm39) V420D probably damaging Het
Mta2 G T 19: 8,927,747 (GRCm39) D523Y probably benign Het
Mtcl2 C T 2: 156,864,776 (GRCm39) G1144D probably benign Het
Muc4 A G 16: 32,576,670 (GRCm39) probably benign Het
Mug1 C T 6: 121,855,902 (GRCm39) Q965* probably null Het
Myo1e T A 9: 70,260,594 (GRCm39) I584N probably damaging Het
Nolc1 T C 19: 46,067,359 (GRCm39) V80A probably damaging Het
Nop56 G T 2: 130,117,645 (GRCm39) V91L probably benign Het
Or5b99 A T 19: 12,976,583 (GRCm39) M78L probably benign Het
Or5h23 A T 16: 58,906,765 (GRCm39) L27Q probably damaging Het
Or6f2 T C 7: 139,756,933 (GRCm39) V300A probably damaging Het
Osbpl3 T C 6: 50,313,277 (GRCm39) E107G probably damaging Het
Pde3a T A 6: 141,195,751 (GRCm39) C146S probably benign Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Pkd1l2 C T 8: 117,774,113 (GRCm39) probably null Het
Plekhg3 T C 12: 76,612,021 (GRCm39) I374T possibly damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Prom1 T G 5: 44,194,876 (GRCm39) I290L probably benign Het
Rufy3 T A 5: 88,785,085 (GRCm39) M387K probably damaging Het
Selenoo G A 15: 88,978,387 (GRCm39) R270H probably damaging Het
Sema3d T A 5: 12,558,054 (GRCm39) probably null Het
Sema6c C T 3: 95,075,674 (GRCm39) T175I probably damaging Het
Serpina3k T C 12: 104,307,305 (GRCm39) I179T probably damaging Het
Slc22a26 C A 19: 7,779,546 (GRCm39) R90L probably damaging Het
Slitrk5 T C 14: 111,917,648 (GRCm39) V424A probably damaging Het
Smarca2 G T 19: 26,698,255 (GRCm39) E89* probably null Het
Stab2 T A 10: 86,773,773 (GRCm39) S853C probably damaging Het
Stk17b A T 1: 53,800,306 (GRCm39) probably null Het
Taar5 T A 10: 23,847,445 (GRCm39) I281N possibly damaging Het
Tars3 A T 7: 65,308,683 (GRCm39) E284D probably damaging Het
Tbx15 C A 3: 99,223,649 (GRCm39) T279K probably damaging Het
Tfr2 G A 5: 137,585,187 (GRCm39) V740I probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tmem145 A G 7: 25,008,459 (GRCm39) T302A probably benign Het
Trappc14 T A 5: 138,259,884 (GRCm39) T391S probably damaging Het
Trpa1 G T 1: 14,946,085 (GRCm39) H1015Q probably benign Het
Tspan8 A G 10: 115,653,534 (GRCm39) Y10C possibly damaging Het
Ttll7 A G 3: 146,600,224 (GRCm39) N44S probably damaging Het
Uba7 T C 9: 107,857,038 (GRCm39) probably null Het
Ube2j2 G A 4: 156,030,841 (GRCm39) M1I probably null Het
Ubr5 C A 15: 38,009,912 (GRCm39) A1022S probably benign Het
Usf1 T G 1: 171,243,331 (GRCm39) I36S probably damaging Het
Vmn1r181 A T 7: 23,683,790 (GRCm39) D85V probably damaging Het
Vmn1r3 A T 4: 3,185,009 (GRCm39) Y99* probably null Het
Vmn1r72 T C 7: 11,404,300 (GRCm39) I49M possibly damaging Het
Vmn2r99 A G 17: 19,582,397 (GRCm39) M1V probably null Het
Vsig10 T A 5: 117,482,040 (GRCm39) V410E probably damaging Het
Zc3h7b A G 15: 81,663,334 (GRCm39) Y442C probably damaging Het
Zfyve26 G T 12: 79,327,159 (GRCm39) Y730* probably null 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
R3236:Sf3b3 UTSW 8 111,538,652 (GRCm39) missense probably damaging 0.99
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
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'- GCTGGAATTAAAGAGTGTAGCTC -3'
(R):5'- GCAGAGATTTGATCCTCGTGG -3'

Sequencing Primer
(F):5'- CTATGTGGTAAGCACCCACATGG -3'
(R):5'- AGAGATTTGATCCTCGTGGTTCTTTC -3'
Posted On 2016-06-06