Incidental Mutation 'IGL02612:Sf3b3'
ID300525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf3b3
Ensembl Gene ENSMUSG00000033732
Gene Namesplicing factor 3b, subunit 3
Synonyms5730409A01Rik, 1810061H24Rik, D8Ertd633e, SAP130, RSE1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02612
Quality Score
Status
Chromosome8
Chromosomal Location110810239-110846787 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110842976 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 37 (I37V)
Ref Sequence ENSEMBL: ENSMUSP00000045073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034203] [ENSMUST00000042012] [ENSMUST00000165867] [ENSMUST00000172668] [ENSMUST00000172897] [ENSMUST00000174165] [ENSMUST00000174398] [ENSMUST00000174723]
Predicted Effect probably benign
Transcript: ENSMUST00000034203
SMART Domains Protein: ENSMUSP00000034203
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
coiled coil region 34 77 N/A INTRINSIC
Blast:Cog4 81 178 1e-53 BLAST
Cog4 188 498 1.81e-140 SMART
Pfam:RINT1_TIP1 536 773 3.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042012
AA Change: I37V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045073
Gene: ENSMUSG00000033732
AA Change: I37V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116868
Predicted Effect probably benign
Transcript: ENSMUST00000165867
SMART Domains Protein: ENSMUSP00000128518
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
Blast:Cog4 8 105 6e-54 BLAST
Cog4 115 425 1.81e-140 SMART
PDB:3HR0|B 452 712 1e-174 PDB
Blast:DIL 621 702 6e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172668
SMART Domains Protein: ENSMUSP00000134252
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
coiled coil region 34 77 N/A INTRINSIC
Blast:Cog4 81 117 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172897
SMART Domains Protein: ENSMUSP00000133583
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174165
SMART Domains Protein: ENSMUSP00000134306
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
coiled coil region 34 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174398
SMART Domains Protein: ENSMUSP00000133297
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
coiled coil region 33 76 N/A INTRINSIC
Blast:Cog4 80 177 9e-54 BLAST
Cog4 187 497 1.81e-140 SMART
PDB:3HR0|B 524 763 1e-153 PDB
Blast:DIL 672 753 7e-38 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174702
Predicted Effect probably benign
Transcript: ENSMUST00000174723
SMART Domains Protein: ENSMUSP00000133471
Gene: ENSMUSG00000031753

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
coiled coil region 34 77 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212843
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,678,012 M1432L probably benign Het
Alg11 A G 8: 22,061,983 R48G probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Bmp4 T A 14: 46,384,481 D202V probably damaging Het
Car12 T G 9: 66,762,424 L300R probably damaging Het
Cdc37l1 T A 19: 29,016,102 *336R probably null Het
Cep89 A G 7: 35,424,655 probably null Het
Ces3b T A 8: 105,085,269 D103E possibly damaging Het
Chd5 A G 4: 152,360,576 D338G probably damaging Het
Crot A G 5: 8,969,945 C466R probably damaging Het
Dach2 T C X: 113,750,404 M194T probably benign Het
Dmrtc1b A G X: 102,713,267 D100G probably benign Het
Epm2a G A 10: 11,457,236 R271H probably damaging Het
Fem1c G T 18: 46,505,714 T407K probably benign Het
Fer1l4 T C 2: 156,047,928 Y273C probably damaging Het
Foxc2 C A 8: 121,117,837 A408E probably benign Het
Gbp10 A T 5: 105,218,502 M512K possibly damaging Het
Gm17677 T C 9: 35,742,164 I88T possibly damaging Het
Gm21671 A C 5: 25,951,616 Y122D probably benign Het
Gm5134 T C 10: 75,992,489 L301P probably damaging Het
Grk3 A T 5: 112,969,234 D100E probably benign Het
Gsdma3 T A 11: 98,635,881 D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 L680I possibly damaging Het
Ighv7-2 T C 12: 113,912,146 Y79C probably damaging Het
Igkv4-50 T C 6: 69,701,040 T27A probably benign Het
Ints2 T C 11: 86,215,578 D1002G probably damaging Het
Map4k5 T A 12: 69,849,584 I169F possibly damaging Het
Mink1 T C 11: 70,597,226 V39A probably damaging Het
Mms22l T A 4: 24,508,482 H301Q probably benign Het
Myh4 C T 11: 67,256,479 T1650I probably benign Het
Olfr658 A T 7: 104,644,663 D234E probably benign Het
Olfr884 T A 9: 38,047,366 L48Q probably damaging Het
Olfr907 T C 9: 38,499,473 M268T probably benign Het
Pbxip1 C T 3: 89,443,681 T117M probably damaging Het
Pgghg C T 7: 140,946,338 T572M probably damaging Het
Phactr2 G A 10: 13,245,423 T511I probably damaging Het
Pip5k1a T C 3: 95,067,413 I385V probably benign Het
Pwp2 A G 10: 78,182,994 C60R probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rttn G T 18: 88,973,626 D110Y probably damaging Het
Setbp1 G T 18: 78,755,710 H1418Q probably damaging Het
Slc27a6 A T 18: 58,556,905 I148F probably benign Het
Slmap A G 14: 26,459,466 probably benign Het
Stil A G 4: 115,023,696 Q479R possibly damaging Het
Svop A G 5: 114,028,260 *549Q probably null Het
Tnks C T 8: 34,849,299 V889I possibly damaging Het
Tnrc6c T A 11: 117,743,000 V1308E possibly damaging Het
Vmn1r208 C A 13: 22,772,823 C168F probably damaging Het
Vmn2r117 A T 17: 23,459,784 M822K possibly damaging Het
Vwa8 A G 14: 79,183,112 N1751S probably benign Het
Vwde A T 6: 13,187,149 F780I probably damaging Het
Washc2 T C 6: 116,220,616 I184T possibly damaging Het
Wdr26 A T 1: 181,177,796 probably benign Het
Zfp608 G A 18: 54,898,201 T889M probably damaging Het
Zfp955a G T 17: 33,244,065 Q31K probably damaging Het
Zpbp2 T C 11: 98,555,517 L145S probably benign Het
Other mutations in Sf3b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Sf3b3 APN 8 110813751 nonsense probably null
IGL00770:Sf3b3 APN 8 110817638 missense probably damaging 0.96
IGL00774:Sf3b3 APN 8 110817638 missense probably damaging 0.96
IGL01132:Sf3b3 APN 8 110842781 missense probably benign
IGL01487:Sf3b3 APN 8 110817660 missense probably benign 0.01
IGL02015:Sf3b3 APN 8 110816290 missense possibly damaging 0.82
IGL02126:Sf3b3 APN 8 110823443 missense probably benign
IGL02833:Sf3b3 APN 8 110811977 critical splice donor site probably null
IGL03033:Sf3b3 APN 8 110810964 missense possibly damaging 0.62
IGL03366:Sf3b3 APN 8 110839954 missense probably damaging 1.00
R0458:Sf3b3 UTSW 8 110812136 splice site probably benign
R0907:Sf3b3 UTSW 8 110811510 splice site probably benign
R1344:Sf3b3 UTSW 8 110838303 missense probably damaging 0.98
R1468:Sf3b3 UTSW 8 110837374 missense probably damaging 1.00
R1468:Sf3b3 UTSW 8 110837374 missense probably damaging 1.00
R1736:Sf3b3 UTSW 8 110813832 missense probably benign
R1833:Sf3b3 UTSW 8 110817566 missense probably benign
R2225:Sf3b3 UTSW 8 110814573 missense probably damaging 1.00
R3236:Sf3b3 UTSW 8 110812020 missense probably damaging 0.99
R3615:Sf3b3 UTSW 8 110844523 missense probably damaging 1.00
R3616:Sf3b3 UTSW 8 110844523 missense probably damaging 1.00
R3683:Sf3b3 UTSW 8 110813621 critical splice donor site probably null
R4197:Sf3b3 UTSW 8 110821565 missense probably damaging 0.98
R4429:Sf3b3 UTSW 8 110826118 missense probably benign 0.01
R4674:Sf3b3 UTSW 8 110844505 missense probably damaging 0.99
R4895:Sf3b3 UTSW 8 110816024 missense probably benign 0.00
R4931:Sf3b3 UTSW 8 110816329 missense probably benign 0.00
R4948:Sf3b3 UTSW 8 110813669 missense probably damaging 0.99
R4999:Sf3b3 UTSW 8 110841203 missense probably benign 0.34
R5150:Sf3b3 UTSW 8 110823376 missense possibly damaging 0.88
R5175:Sf3b3 UTSW 8 110833835 missense probably benign
R5559:Sf3b3 UTSW 8 110838215 missense probably benign 0.00
R5866:Sf3b3 UTSW 8 110814634 missense probably benign
R5934:Sf3b3 UTSW 8 110823470 missense probably damaging 0.99
R6270:Sf3b3 UTSW 8 110841820 missense probably damaging 1.00
R6803:Sf3b3 UTSW 8 110825578 missense probably benign 0.01
R7078:Sf3b3 UTSW 8 110813007 missense possibly damaging 0.90
R7252:Sf3b3 UTSW 8 110839930 missense probably damaging 0.99
R7467:Sf3b3 UTSW 8 110811456 missense possibly damaging 0.89
R7523:Sf3b3 UTSW 8 110813720 missense probably benign 0.35
R7544:Sf3b3 UTSW 8 110838283 missense probably benign 0.01
R7638:Sf3b3 UTSW 8 110820813 missense probably damaging 1.00
X0024:Sf3b3 UTSW 8 110842932 missense probably benign 0.08
Posted On2015-04-16