Incidental Mutation 'R1609:Sf3b2'
ID 176699
Institutional Source Beutler Lab
Gene Symbol Sf3b2
Ensembl Gene ENSMUSG00000024853
Gene Name splicing factor 3b, subunit 2
Synonyms B230398H18Rik, SAP145, 2610311M13Rik, SF3b1, SF3b145, 2810441F20Rik, SF3b150, 145kDa
MMRRC Submission 039646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1609 (G1)
Quality Score 182
Status Validated
Chromosome 19
Chromosomal Location 5323960-5345483 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 5345061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000061517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025774] [ENSMUST00000061169]
AlphaFold Q3UJB0
Predicted Effect probably benign
Transcript: ENSMUST00000025774
SMART Domains Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
SAP 24 58 1.84e-4 SMART
low complexity region 91 132 N/A INTRINSIC
coiled coil region 140 178 N/A INTRINSIC
low complexity region 201 221 N/A INTRINSIC
low complexity region 225 237 N/A INTRINSIC
low complexity region 264 280 N/A INTRINSIC
low complexity region 303 318 N/A INTRINSIC
low complexity region 383 397 N/A INTRINSIC
low complexity region 408 437 N/A INTRINSIC
Pfam:DUF382 453 579 2.9e-63 PFAM
PSP 584 642 9.41e-33 SMART
low complexity region 693 717 N/A INTRINSIC
low complexity region 745 756 N/A INTRINSIC
low complexity region 807 818 N/A INTRINSIC
low complexity region 851 862 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061169
SMART Domains Protein: ENSMUSP00000061517
Gene: ENSMUSG00000047658

DomainStartEndE-ValueType
Pfam:Gal-3-0_sulfotr 1 399 3.4e-205 PFAM
Pfam:Sulfotransfer_2 60 298 1.9e-7 PFAM
low complexity region 416 428 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 2 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 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,039,630 (GRCm39) R380C possibly damaging Het
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Ccdc6 C A 10: 70,002,877 (GRCm39) Q203K probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gnaq G A 19: 16,360,618 (GRCm39) V314M possibly damaging Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Prkra A T 2: 76,463,936 (GRCm39) I242N probably benign Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Setmar A G 6: 108,053,076 (GRCm39) D190G probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K probably damaging Het
Other mutations in Sf3b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Sf3b2 APN 19 5,329,615 (GRCm39) missense probably benign 0.00
IGL01737:Sf3b2 APN 19 5,329,866 (GRCm39) splice site probably benign
IGL02205:Sf3b2 APN 19 5,333,765 (GRCm39) missense probably benign 0.01
R0184:Sf3b2 UTSW 19 5,333,700 (GRCm39) missense probably damaging 1.00
R0370:Sf3b2 UTSW 19 5,324,852 (GRCm39) missense probably damaging 1.00
R0371:Sf3b2 UTSW 19 5,324,852 (GRCm39) missense probably damaging 1.00
R0372:Sf3b2 UTSW 19 5,324,852 (GRCm39) missense probably damaging 1.00
R0373:Sf3b2 UTSW 19 5,324,852 (GRCm39) missense probably damaging 1.00
R0375:Sf3b2 UTSW 19 5,324,852 (GRCm39) missense probably damaging 1.00
R1606:Sf3b2 UTSW 19 5,338,026 (GRCm39) missense probably benign 0.00
R2566:Sf3b2 UTSW 19 5,325,118 (GRCm39) missense possibly damaging 0.92
R5163:Sf3b2 UTSW 19 5,325,165 (GRCm39) missense probably damaging 1.00
R6208:Sf3b2 UTSW 19 5,325,126 (GRCm39) missense possibly damaging 0.82
R6275:Sf3b2 UTSW 19 5,333,678 (GRCm39) missense probably damaging 1.00
R6644:Sf3b2 UTSW 19 5,329,992 (GRCm39) splice site probably null
R6986:Sf3b2 UTSW 19 5,329,923 (GRCm39) missense probably benign
R7007:Sf3b2 UTSW 19 5,324,545 (GRCm39) missense probably benign 0.13
R8428:Sf3b2 UTSW 19 5,337,242 (GRCm39) missense possibly damaging 0.52
R8677:Sf3b2 UTSW 19 5,336,257 (GRCm39) missense probably damaging 0.99
R9041:Sf3b2 UTSW 19 5,324,872 (GRCm39) missense possibly damaging 0.47
Z1177:Sf3b2 UTSW 19 5,324,978 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGCTTGCTGCGTTGAAGTACAC -3'
(R):5'- AAGTGGAGCTTGGTTACCCAGGAG -3'

Sequencing Primer
(F):5'- ggaaggcaaacgcattagg -3'
(R):5'- TGGTTACCCAGGAGACCCAC -3'
Posted On 2014-04-24