Incidental Mutation 'IGL02330:Sf3b4'
ID288647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sf3b4
Ensembl Gene ENSMUSG00000068856
Gene Namesplicing factor 3b, subunit 4
SynonymsSF3b49, 49kDa, Sap49
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL02330
Quality Score
Status
Chromosome3
Chromosomal Location96172332-96177564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96173060 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 42 (T42S)
Ref Sequence ENSEMBL: ENSMUSP00000075709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]
Predicted Effect probably benign
Transcript: ENSMUST00000054356
SMART Domains Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934

DomainStartEndE-ValueType
Pfam:Myotub-related 191 323 1.7e-12 PFAM
Pfam:Myotub-related 312 488 1.3e-44 PFAM
Pfam:3-PAP 550 683 2.3e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000076372
AA Change: T42S

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856
AA Change: T42S

DomainStartEndE-ValueType
RRM 14 87 1.46e-25 SMART
RRM 101 175 5.07e-25 SMART
low complexity region 214 307 N/A INTRINSIC
low complexity region 310 423 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122737
Predicted Effect probably benign
Transcript: ENSMUST00000129925
SMART Domains Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934

DomainStartEndE-ValueType
Pfam:Myotub-related 162 264 4.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199721
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes one of the subunits of splicing factor 3B. A similar gene in human encodes a protein that cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes, and also belongs with the minor U12-dependent spliceosome. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 55,872,363 I352K probably benign Het
Atp8a1 T C 5: 67,813,177 N73S probably damaging Het
Cilp T C 9: 65,274,522 probably benign Het
Csf2rb2 C T 15: 78,285,128 G500D possibly damaging Het
Cyp4a14 A C 4: 115,495,027 probably benign Het
Dagla T G 19: 10,248,022 D926A probably damaging Het
Ddr2 T A 1: 169,988,524 Y538F probably damaging Het
Eng T A 2: 32,669,569 probably null Het
Fbxo24 G T 5: 137,621,317 L99M probably damaging Het
Fmn2 A G 1: 174,609,945 S1161G probably benign Het
Foxp1 T C 6: 98,945,412 N453D probably damaging Het
Fut8 A G 12: 77,450,243 D409G probably damaging Het
Hmces A G 6: 87,914,535 H8R probably damaging Het
Ing3 T C 6: 21,952,121 C44R probably benign Het
Itga1 T A 13: 115,012,204 I294F probably damaging Het
Mov10l1 T A 15: 89,026,490 S976T probably damaging Het
Myo15 A G 11: 60,477,161 Y249C possibly damaging Het
Nop56 T C 2: 130,276,766 S273P probably damaging Het
Olfr50 C T 2: 36,793,895 H220Y probably benign Het
Olfr514 A T 7: 108,825,999 probably benign Het
Otog C T 7: 46,288,069 S1734F possibly damaging Het
Phc3 T G 3: 30,936,381 E562D probably damaging Het
Ralb A T 1: 119,471,720 C203S probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Sgsm2 T C 11: 74,858,667 T584A probably benign Het
Slco5a1 T C 1: 12,939,060 K397R probably damaging Het
Trim30c A G 7: 104,382,958 Y299H possibly damaging Het
Trip6 T C 5: 137,313,358 D119G probably benign Het
Uap1 A T 1: 170,150,327 I385N possibly damaging Het
Vmn1r123 T A 7: 21,163,044 I287N probably damaging Het
Vwce T C 19: 10,646,801 L352P possibly damaging Het
Xrn1 T A 9: 95,973,348 Y260* probably null Het
Zfp738 T C 13: 67,671,431 Y147C probably damaging Het
Other mutations in Sf3b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0385:Sf3b4 UTSW 3 96172982 missense probably damaging 0.98
R0494:Sf3b4 UTSW 3 96173701 missense probably damaging 0.98
R1403:Sf3b4 UTSW 3 96173637 unclassified probably null
R1403:Sf3b4 UTSW 3 96173637 unclassified probably null
R3705:Sf3b4 UTSW 3 96176628 unclassified probably benign
R5305:Sf3b4 UTSW 3 96173642 missense probably damaging 1.00
R6360:Sf3b4 UTSW 3 96176728 unclassified probably benign
Posted On2015-04-16