Incidental Mutation 'R4931:Sf3b3'
ID 380568
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 042532-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111537123-111573578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111542961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 832 (R832Q)
Ref Sequence ENSEMBL: ENSMUSP00000045073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042012]
AlphaFold Q921M3
Predicted Effect probably benign
Transcript: ENSMUST00000042012
AA Change: R832Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: R832Q

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
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R 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
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
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'- CTAAAGGCTGCCTCGTTTTG -3'
(R):5'- CTAAGTGTTTTAGTGCAGACCTGC -3'

Sequencing Primer
(F):5'- TTTGCTCCAACTGGACAAGG -3'
(R):5'- GCTGCACCATTTGTTGAAGC -3'
Posted On 2016-04-15