Incidental Mutation 'R1736:Sf3b3'
ID 199721
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 039768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1736 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111537123-111573578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111540464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 986 (I986V)
Ref Sequence ENSEMBL: ENSMUSP00000045073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042012]
AlphaFold Q921M3
Predicted Effect probably benign
Transcript: ENSMUST00000042012
AA Change: I986V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: I986V

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 0.0693 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Atp8b2 G A 3: 89,860,001 (GRCm39) P339S probably damaging Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Fscn2 G A 11: 120,258,852 (GRCm39) G466S probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Gosr2 G A 11: 103,570,076 (GRCm39) Q162* probably null Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Uchl1 T C 5: 66,834,417 (GRCm39) probably null Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L probably benign 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
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
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'- AAATGTTGCCAAACTTGTCTGCCC -3'
(R):5'- TTGCTACCAACCTTGATGGCTCG -3'

Sequencing Primer
(F):5'- CCAGCCACAGTGTCATAGTCG -3'
(R):5'- ctgtccttaaaactccagaatcc -3'
Posted On 2014-05-23