Incidental Mutation 'R6208:Sf3b2'
ID 503296
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 044342-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5323960-5345483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5325126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 782 (M782K)
Ref Sequence ENSEMBL: ENSMUSP00000025774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025774] [ENSMUST00000025786]
AlphaFold Q3UJB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025774
AA Change: M782K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853
AA Change: M782K

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: ENSMUST00000025786
SMART Domains Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
low complexity region 27 46 N/A INTRINSIC
low complexity region 51 97 N/A INTRINSIC
low complexity region 276 290 N/A INTRINSIC
low complexity region 306 320 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
Pfam:Pacs-1 546 958 2e-193 PFAM
Meta Mutation Damage Score 0.6875 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign 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
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
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'- TACTTCTGCGTCATGGCCATG -3'
(R):5'- CCTTCAGCCGTAGTTATCTTGGG -3'

Sequencing Primer
(F):5'- GGGTCCAACTCCAATTCCTCAGG -3'
(R):5'- CAGCCGTAGTTATCTTGGGATTCTC -3'
Posted On 2018-02-27