Incidental Mutation 'R6360:Sf3b4'
ID 513052
Institutional Source Beutler Lab
Gene Symbol Sf3b4
Ensembl Gene ENSMUSG00000068856
Gene Name splicing factor 3b, subunit 4
Synonyms 49kDa, Sap49, SF3b49
MMRRC Submission 044510-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R6360 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96079822-96084880 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 96084044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035371] [ENSMUST00000076372]
AlphaFold Q8QZY9
Predicted Effect probably benign
Transcript: ENSMUST00000035371
SMART Domains Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 123 138 N/A INTRINSIC
Pfam:Sugar_tr 149 484 5.3e-30 PFAM
Pfam:MFS_1 168 483 1.6e-24 PFAM
Pfam:Pentapeptide_4 513 585 7.7e-11 PFAM
Pfam:MFS_1 561 739 3.9e-12 PFAM
Pfam:Sugar_tr 588 742 4.5e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000076372
AA Change: R336Q
SMART Domains Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856
AA Change: R336Q

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 noncoding transcript
Transcript: ENSMUST00000153977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199721
Meta Mutation Damage Score 0.1055 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,831 (GRCm39) Q657* probably null Het
Car15 T C 16: 17,655,930 (GRCm39) T560A probably benign Het
Cass4 C T 2: 172,274,531 (GRCm39) H769Y probably damaging Het
Cdh6 A G 15: 13,041,546 (GRCm39) I506T possibly damaging Het
Clstn3 G T 6: 124,415,388 (GRCm39) R659S possibly damaging Het
Cntnap5b C T 1: 100,359,461 (GRCm39) R695* probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dab2ip A G 2: 35,600,278 (GRCm39) H355R probably benign Het
Dennd2a C T 6: 39,470,076 (GRCm39) A539T probably benign Het
Dnajc18 T C 18: 35,819,762 (GRCm39) E173G probably damaging Het
Dock7 T C 4: 98,857,899 (GRCm39) I1472V probably benign Het
Esco1 A T 18: 10,574,931 (GRCm39) F714I probably damaging Het
Fam107a T G 14: 8,299,619 (GRCm38) H73P probably damaging Het
Flg A G 3: 93,197,908 (GRCm39) probably benign Het
Fyn C A 10: 39,402,879 (GRCm39) T217K possibly damaging Het
Gbp9 T C 5: 105,231,596 (GRCm39) D330G probably benign Het
Gin1 T C 1: 97,720,264 (GRCm39) S509P possibly damaging Het
Gm17067 A C 7: 42,357,906 (GRCm39) S199A probably benign Het
Grk4 A T 5: 34,831,881 (GRCm39) K50M probably damaging Het
Inpp4b A G 8: 82,629,481 (GRCm39) H272R probably benign Het
Ipo7 T A 7: 109,626,336 (GRCm39) L48Q probably damaging Het
Kbtbd2 A G 6: 56,756,191 (GRCm39) I515T probably damaging Het
Kcnu1 T A 8: 26,351,208 (GRCm39) S190R possibly damaging Het
Kpnb1 T C 11: 97,064,096 (GRCm39) N336S probably benign Het
Lbr G T 1: 181,659,720 (GRCm39) D158E probably benign Het
Mphosph10 T C 7: 64,039,703 (GRCm39) Q89R probably benign Het
Nectin3 T A 16: 46,231,472 (GRCm39) T21S probably benign Het
Numb C A 12: 83,844,036 (GRCm39) R383L probably damaging Het
Or2p2 A T 13: 21,256,753 (GRCm39) N239K probably damaging Het
Or9a7 G T 6: 40,521,647 (GRCm39) Q89K possibly damaging Het
Pcdhb11 A T 18: 37,555,212 (GRCm39) I181F probably benign Het
Pcgf2 T A 11: 97,583,235 (GRCm39) probably null Het
Pdzd8 T C 19: 59,289,415 (GRCm39) T662A probably benign Het
Pex13 A C 11: 23,605,690 (GRCm39) V180G probably benign Het
Pira1 A T 7: 3,739,503 (GRCm39) L455Q probably damaging Het
Pkp4 T A 2: 59,045,091 (GRCm39) V22D probably benign Het
Prkn T C 17: 12,222,939 (GRCm39) F363S probably damaging Het
Prpf4b A C 13: 35,085,416 (GRCm39) D954A probably damaging Het
Rfx8 T C 1: 39,720,125 (GRCm39) I317V probably benign Het
Rnaseh2b T C 14: 62,598,868 (GRCm39) S198P probably damaging Het
Rock1 A T 18: 10,116,778 (GRCm39) C453S possibly damaging Het
Saxo4 T C 19: 10,456,845 (GRCm39) N167D probably damaging Het
Scarf1 G T 11: 75,406,495 (GRCm39) G260W probably damaging Het
Scyl1 T C 19: 5,810,599 (GRCm39) E538G probably damaging Het
Sec14l5 A T 16: 4,990,859 (GRCm39) I267F probably damaging Het
Senp6 T A 9: 80,021,088 (GRCm39) V256D probably benign Het
Ssh1 T C 5: 114,099,408 (GRCm39) probably null Het
Tas2r143 A C 6: 42,377,769 (GRCm39) M200L probably benign Het
Tbc1d22a C T 15: 86,098,830 (GRCm39) P19S probably damaging Het
Tent5b T C 4: 133,214,067 (GRCm39) F313L probably damaging Het
Tmc5 T A 7: 118,233,189 (GRCm39) M1K probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tshz3 A G 7: 36,468,866 (GRCm39) E285G probably damaging Het
Txndc11 C T 16: 10,902,656 (GRCm39) V664M probably damaging Het
Ube2g1 A T 11: 72,553,908 (GRCm39) N20Y probably damaging Het
Ufl1 T A 4: 25,265,476 (GRCm39) I369L probably benign Het
Vwf A T 6: 125,660,489 (GRCm39) T2666S probably benign Het
Yif1a A G 19: 5,142,369 (GRCm39) M259V probably benign Het
Zbtb46 T C 2: 181,033,248 (GRCm39) D471G probably damaging Het
Other mutations in Sf3b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02330:Sf3b4 APN 3 96,080,376 (GRCm39) missense possibly damaging 0.84
R0385:Sf3b4 UTSW 3 96,080,298 (GRCm39) missense probably damaging 0.98
R0494:Sf3b4 UTSW 3 96,081,017 (GRCm39) missense probably damaging 0.98
R1403:Sf3b4 UTSW 3 96,080,953 (GRCm39) splice site probably null
R1403:Sf3b4 UTSW 3 96,080,953 (GRCm39) splice site probably null
R3705:Sf3b4 UTSW 3 96,083,944 (GRCm39) unclassified probably benign
R5305:Sf3b4 UTSW 3 96,080,958 (GRCm39) missense probably damaging 1.00
R9035:Sf3b4 UTSW 3 96,080,381 (GRCm39) missense probably damaging 1.00
R9489:Sf3b4 UTSW 3 96,080,946 (GRCm39) missense probably damaging 1.00
R9621:Sf3b4 UTSW 3 96,084,115 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGCTGGGCTTTACTGTAGGAA -3'
(R):5'- AGCAGCTAATGTGGAGATGAGT -3'

Sequencing Primer
(F):5'- CTGTGTTTAAGTCATCATTGTGCAC -3'
(R):5'- CTAATGTGGAGATGAGTAGGGATG -3'
Posted On 2018-04-27