Incidental Mutation 'R4706:Sf3b1'
ID 355185
Institutional Source Beutler Lab
Gene Symbol Sf3b1
Ensembl Gene ENSMUSG00000025982
Gene Name splicing factor 3b, subunit 1
Synonyms Prp10, SAP155, SF3b155, 2810001M05Rik, Targ4
MMRRC Submission 041954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4706 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 55024328-55066640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55029666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1112 (T1112M)
Ref Sequence ENSEMBL: ENSMUSP00000027127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027127]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027127
AA Change: T1112M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027127
Gene: ENSMUSG00000025982
AA Change: T1112M

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 65 75 N/A INTRINSIC
internal_repeat_1 185 276 1.77e-12 PROSPERO
Pfam:SF3b1 329 452 1.2e-51 PFAM
SCOP:d1qbkb_ 489 1289 5e-62 SMART
Blast:ARM 593 637 6e-13 BLAST
Blast:ARM 1005 1044 7e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190175
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 1 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. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,064,988 (GRCm39) N548K probably damaging Het
Abcd2 T C 15: 91,043,385 (GRCm39) D601G probably benign Het
Afap1l2 A T 19: 56,925,672 (GRCm39) I152N possibly damaging Het
Ankrd52 T G 10: 128,214,030 (GRCm39) M62R probably benign Het
Aox4 A T 1: 58,305,946 (GRCm39) T1317S probably damaging Het
Apol7c T A 15: 77,409,923 (GRCm39) Q341L probably benign Het
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt2 C T 11: 95,766,923 (GRCm39) probably null Het
Cecr2 A T 6: 120,732,539 (GRCm39) E477V possibly damaging Het
Chmp7 A T 14: 69,956,010 (GRCm39) D419E probably benign Het
Cmip A C 8: 118,103,893 (GRCm39) K127T probably damaging Het
Csmd2 T C 4: 128,438,544 (GRCm39) V3041A probably benign Het
Cyp1b1 T A 17: 80,020,771 (GRCm39) I324F possibly damaging Het
Dapp1 T C 3: 137,638,928 (GRCm39) D225G probably benign Het
Ddx10 T C 9: 53,145,231 (GRCm39) T249A probably damaging Het
Dscaml1 T C 9: 45,361,878 (GRCm39) Y213H probably damaging Het
Eef1a2 T C 2: 180,797,150 (GRCm39) D17G probably damaging Het
Fbn1 T C 2: 125,212,069 (GRCm39) I848V probably benign Het
Fbxw18 A G 9: 109,519,585 (GRCm39) I307T probably benign Het
Fxr1 T A 3: 34,118,278 (GRCm39) D500E probably damaging Het
Gars1 G A 6: 55,046,363 (GRCm39) G492D probably damaging Het
Gria2 A T 3: 80,648,297 (GRCm39) D146E probably benign Het
Gstz1 A G 12: 87,205,894 (GRCm39) N37S probably benign Het
Hnrnph3 C A 10: 62,853,059 (GRCm39) G194V probably damaging Het
Il2rb T C 15: 78,370,600 (GRCm39) R172G possibly damaging Het
Itga11 T A 9: 62,662,578 (GRCm39) V517D possibly damaging Het
Kcnq4 A G 4: 120,561,683 (GRCm39) I462T probably benign Het
Klf6 T A 13: 5,911,639 (GRCm39) M1K probably null Het
Lrp8 G A 4: 107,718,470 (GRCm39) A817T probably benign Het
Map3k5 T A 10: 19,934,684 (GRCm39) Y509N probably damaging Het
Mdc1 C T 17: 36,163,671 (GRCm39) S1073F probably damaging Het
Mme A G 3: 63,256,133 (GRCm39) D531G possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 A T 4: 106,548,821 (GRCm39) V1014E possibly damaging Het
Msantd5l A T 11: 51,144,668 (GRCm39) F204L possibly damaging Het
Myo1d C T 11: 80,557,467 (GRCm39) C491Y probably damaging Het
Ncoa3 C A 2: 165,889,799 (GRCm39) D61E probably damaging Het
Nmrk1 A G 19: 18,622,491 (GRCm39) E190G probably benign Het
Nr4a2 G T 2: 57,002,225 (GRCm39) P13H probably damaging Het
Nup205 T C 6: 35,178,943 (GRCm39) L671P probably damaging Het
Omt2a T C 9: 78,220,352 (GRCm39) I16V probably benign Het
Or4c116 A T 2: 88,942,576 (GRCm39) F93L probably damaging Het
Or51f2 T A 7: 102,526,640 (GRCm39) H104Q probably damaging Het
Or6n1 A G 1: 173,917,268 (GRCm39) I221V probably damaging Het
Or8k24 G A 2: 86,216,732 (GRCm39) T10I probably benign Het
Or8s5 G T 15: 98,238,659 (GRCm39) H70Q possibly damaging Het
Osbpl9 A T 4: 109,013,884 (GRCm39) I70N probably damaging Het
Pclo A T 5: 14,764,221 (GRCm39) L4231F unknown Het
Per1 C T 11: 68,991,444 (GRCm39) probably benign Het
Perm1 G T 4: 156,301,531 (GRCm39) C25F probably damaging Het
Phf3 A G 1: 30,844,687 (GRCm39) V1424A probably damaging Het
Plxnb1 T G 9: 108,941,096 (GRCm39) L1625R probably damaging Het
Ppid G A 3: 79,506,359 (GRCm39) V216I probably benign Het
Ppp4r3a C T 12: 101,008,175 (GRCm39) G754D probably damaging Het
Prex2 G T 1: 11,270,212 (GRCm39) W1299L probably damaging Het
Ptprn2 C A 12: 116,835,714 (GRCm39) Q350K probably benign Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rbm8a G A 3: 96,537,368 (GRCm39) probably benign Het
Relch T A 1: 105,620,004 (GRCm39) M353K probably benign Het
Ros1 A G 10: 51,977,990 (GRCm39) S1419P possibly damaging Het
Rps6ka5 C T 12: 100,564,144 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Rtel1 T C 2: 180,965,539 (GRCm39) probably null Het
Sacs A G 14: 61,441,722 (GRCm39) E1256G probably damaging Het
Sec23a A G 12: 59,029,372 (GRCm39) V467A probably damaging Het
Sec24d T A 3: 123,149,427 (GRCm39) N811K possibly damaging Het
Shisa5 T A 9: 108,885,128 (GRCm39) C133S probably null Het
Slc16a6 A G 11: 109,354,193 (GRCm39) S59P probably benign Het
Slc25a31 G A 3: 40,670,975 (GRCm39) A89T probably damaging Het
Slc6a1 G T 6: 114,284,713 (GRCm39) R257L possibly damaging Het
Sntb1 C T 15: 55,612,670 (GRCm39) V303M probably benign Het
Snx20 A G 8: 89,354,439 (GRCm39) V97A probably damaging Het
Vmn1r29 T A 6: 58,285,136 (GRCm39) N285K probably benign Het
Vmn2r98 T G 17: 19,290,007 (GRCm39) S514R probably damaging Het
Zfp28 A T 7: 6,392,793 (GRCm39) E156D probably damaging Het
Zfp39 A G 11: 58,793,633 (GRCm39) V35A probably benign Het
Zfp536 A C 7: 37,268,891 (GRCm39) I175S probably damaging Het
Zic5 A T 14: 122,696,969 (GRCm39) S549T unknown Het
Other mutations in Sf3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Sf3b1 APN 1 55,026,645 (GRCm39) missense probably damaging 1.00
IGL00815:Sf3b1 APN 1 55,036,090 (GRCm39) splice site probably benign
IGL01380:Sf3b1 APN 1 55,027,108 (GRCm39) missense probably damaging 1.00
IGL01390:Sf3b1 APN 1 55,026,588 (GRCm39) missense probably benign 0.17
IGL02974:Sf3b1 APN 1 55,046,866 (GRCm39) missense probably benign 0.00
IGL03159:Sf3b1 APN 1 55,051,372 (GRCm39) missense probably benign
Colt UTSW 1 55,036,315 (GRCm39) missense probably benign 0.45
Glock UTSW 1 55,040,205 (GRCm39) missense probably damaging 0.96
Handgun UTSW 1 55,046,666 (GRCm39) missense probably damaging 1.00
Kalashnikov UTSW 1 55,058,424 (GRCm39) missense probably damaging 0.99
Magazine UTSW 1 55,051,341 (GRCm39) nonsense probably null
Revolver UTSW 1 55,058,548 (GRCm39) nonsense probably null
R0053:Sf3b1 UTSW 1 55,039,532 (GRCm39) nonsense probably null
R0053:Sf3b1 UTSW 1 55,039,532 (GRCm39) nonsense probably null
R0190:Sf3b1 UTSW 1 55,029,465 (GRCm39) missense probably damaging 0.99
R0277:Sf3b1 UTSW 1 55,058,416 (GRCm39) missense probably damaging 0.99
R0323:Sf3b1 UTSW 1 55,058,416 (GRCm39) missense probably damaging 0.99
R0369:Sf3b1 UTSW 1 55,037,267 (GRCm39) missense probably benign 0.10
R0396:Sf3b1 UTSW 1 55,058,430 (GRCm39) missense probably damaging 1.00
R0718:Sf3b1 UTSW 1 55,058,544 (GRCm39) missense probably damaging 0.99
R0991:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1082:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1083:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1084:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1196:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1376:Sf3b1 UTSW 1 55,058,424 (GRCm39) missense probably damaging 0.99
R1376:Sf3b1 UTSW 1 55,058,424 (GRCm39) missense probably damaging 0.99
R1381:Sf3b1 UTSW 1 55,042,313 (GRCm39) missense probably damaging 0.99
R1436:Sf3b1 UTSW 1 55,040,580 (GRCm39) missense possibly damaging 0.72
R1559:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1560:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1561:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1567:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1568:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1588:Sf3b1 UTSW 1 55,036,336 (GRCm39) missense probably benign 0.05
R1625:Sf3b1 UTSW 1 55,058,536 (GRCm39) missense probably damaging 1.00
R1694:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense possibly damaging 0.89
R1735:Sf3b1 UTSW 1 55,039,811 (GRCm39) missense probably damaging 1.00
R1900:Sf3b1 UTSW 1 55,037,347 (GRCm39) missense possibly damaging 0.75
R2186:Sf3b1 UTSW 1 55,046,792 (GRCm39) missense probably benign
R2429:Sf3b1 UTSW 1 55,055,960 (GRCm39) missense possibly damaging 0.71
R2473:Sf3b1 UTSW 1 55,038,785 (GRCm39) critical splice donor site probably null
R3772:Sf3b1 UTSW 1 55,039,150 (GRCm39) intron probably benign
R3911:Sf3b1 UTSW 1 55,058,548 (GRCm39) nonsense probably null
R3970:Sf3b1 UTSW 1 55,051,341 (GRCm39) nonsense probably null
R4707:Sf3b1 UTSW 1 55,029,666 (GRCm39) missense probably damaging 1.00
R4964:Sf3b1 UTSW 1 55,038,871 (GRCm39) missense probably benign
R5053:Sf3b1 UTSW 1 55,036,336 (GRCm39) missense probably benign 0.05
R5358:Sf3b1 UTSW 1 55,042,469 (GRCm39) missense probably benign 0.09
R5379:Sf3b1 UTSW 1 55,042,309 (GRCm39) missense possibly damaging 0.94
R5628:Sf3b1 UTSW 1 55,037,334 (GRCm39) missense probably benign 0.27
R5636:Sf3b1 UTSW 1 55,036,352 (GRCm39) missense probably damaging 1.00
R6013:Sf3b1 UTSW 1 55,039,457 (GRCm39) missense probably damaging 0.98
R6149:Sf3b1 UTSW 1 55,046,666 (GRCm39) missense probably damaging 1.00
R6217:Sf3b1 UTSW 1 55,046,677 (GRCm39) missense probably damaging 1.00
R6426:Sf3b1 UTSW 1 55,038,814 (GRCm39) missense probably benign 0.01
R6531:Sf3b1 UTSW 1 55,058,554 (GRCm39) missense probably damaging 0.99
R6945:Sf3b1 UTSW 1 55,036,315 (GRCm39) missense probably benign 0.45
R7001:Sf3b1 UTSW 1 55,053,640 (GRCm39) critical splice donor site probably null
R7001:Sf3b1 UTSW 1 55,040,205 (GRCm39) missense probably damaging 0.96
R7302:Sf3b1 UTSW 1 55,055,949 (GRCm39) missense probably benign 0.00
R7644:Sf3b1 UTSW 1 55,036,302 (GRCm39) nonsense probably null
R7664:Sf3b1 UTSW 1 55,026,626 (GRCm39) missense probably damaging 1.00
R7735:Sf3b1 UTSW 1 55,042,508 (GRCm39) missense probably benign 0.29
R7809:Sf3b1 UTSW 1 55,034,614 (GRCm39) missense possibly damaging 0.60
R8516:Sf3b1 UTSW 1 55,051,262 (GRCm39) missense probably null 0.01
R8871:Sf3b1 UTSW 1 55,029,508 (GRCm39) missense probably damaging 1.00
R8947:Sf3b1 UTSW 1 55,039,444 (GRCm39) missense probably damaging 1.00
R9216:Sf3b1 UTSW 1 55,051,376 (GRCm39) missense probably benign 0.00
Z1177:Sf3b1 UTSW 1 55,042,561 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTAACGCATCCTCAAGTAAAGGCG -3'
(R):5'- TGGAAGTTGTAATGACATCCTTTAGTG -3'

Sequencing Primer
(F):5'- GCGTCACAGCATAGATGTAGTCTTTC -3'
(R):5'- CCATTCGCTTGCAGGTT -3'
Posted On 2015-10-21