Incidental Mutation 'IGL00164:Sf3b2'
ID 720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf3b2
Ensembl Gene ENSMUSG00000024853
Gene Name splicing factor 3b, subunit 2
Synonyms B230398H18Rik, SAP145, 2610311M13Rik, SF3b1, SF3b145, 2810441F20Rik, SF3b150, 145kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL00164
Quality Score
Status
Chromosome 19
Chromosomal Location 5323960-5345483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5329615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 687 (D687G)
Ref Sequence ENSEMBL: ENSMUSP00000025774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025774]
AlphaFold Q3UJB0
Predicted Effect probably benign
Transcript: ENSMUST00000025774
AA Change: D687G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: D687G

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
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,471,477 (GRCm39) probably benign Het
Abcg4 A G 9: 44,186,439 (GRCm39) probably benign Het
Actr2 A G 11: 20,030,015 (GRCm39) probably benign Het
Adgrb3 A G 1: 25,267,581 (GRCm39) L843P probably benign Het
Cdk19 G A 10: 40,312,161 (GRCm39) D137N probably benign Het
Cuedc2 T A 19: 46,320,359 (GRCm39) I71F probably damaging Het
Dag1 A G 9: 108,086,487 (GRCm39) V218A probably damaging Het
Dlg5 A C 14: 24,208,532 (GRCm39) S868R possibly damaging Het
Ecsit C T 9: 21,984,310 (GRCm39) G340D probably benign Het
Fkbp8 A G 8: 70,987,211 (GRCm39) M358V probably damaging Het
Gckr G A 5: 31,456,920 (GRCm39) V79M probably damaging Het
Gpd1 C A 15: 99,618,532 (GRCm39) D172E probably benign Het
Josd2 T C 7: 44,120,740 (GRCm39) probably benign Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Notch1 G A 2: 26,350,058 (GRCm39) R2361W probably damaging Het
Or5w1 T C 2: 87,486,582 (GRCm39) M228V probably benign Het
Palb2 A C 7: 121,720,271 (GRCm39) probably benign Het
Pan2 C T 10: 128,148,795 (GRCm39) Q452* probably null Het
Pcnx1 T C 12: 81,941,875 (GRCm39) V91A probably damaging Het
Rgs22 T A 15: 36,100,077 (GRCm39) I213F possibly damaging Het
Serpina3b G T 12: 104,105,046 (GRCm39) W407C probably benign Het
Slc8a3 T C 12: 81,361,343 (GRCm39) E492G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Surf1 C T 2: 26,803,584 (GRCm39) probably null Het
Tmem190 T C 7: 4,785,998 (GRCm39) probably benign Het
Zfhx2 A G 14: 55,302,483 (GRCm39) S1834P possibly damaging Het
Zfp607a G A 7: 27,577,214 (GRCm39) E95K possibly damaging Het
Other mutations in Sf3b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1609:Sf3b2 UTSW 19 5,345,061 (GRCm39) unclassified probably benign
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
Posted On 2011-07-12