Incidental Mutation 'R1403:Sf3b4'
ID 188593
Institutional Source Beutler Lab
Gene Symbol Sf3b4
Ensembl Gene ENSMUSG00000068856
Gene Name splicing factor 3b, subunit 4
Synonyms 49kDa, Sap49, SF3b49
MMRRC Submission 039465-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R1403 (G1)
Quality Score 196
Status Validated
Chromosome 3
Chromosomal Location 96079822-96084880 bp(+) (GRCm39)
Type of Mutation splice site (1919 bp from exon)
DNA Base Change (assembly) A to G at 96080953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]
AlphaFold Q8QZY9
Predicted Effect probably null
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: N87S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856
AA Change: N87S

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: ENSMUST00000180958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196004
Meta Mutation Damage Score 0.4812 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (51/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
AC238840.3 T G 7: 38,567,345 (GRCm39) I28L probably benign Het
Acsf2 G T 11: 94,453,700 (GRCm39) N420K probably benign Het
Adam26a A T 8: 44,022,229 (GRCm39) C420* probably null Het
Afap1l1 T C 18: 61,874,909 (GRCm39) Y424C probably damaging Het
Agl A G 3: 116,576,246 (GRCm39) V553A probably benign Het
Akr7a5 T A 4: 139,045,434 (GRCm39) M325K probably damaging Het
Akt3 C T 1: 176,958,676 (GRCm39) probably benign Het
Aldh7a1 C A 18: 56,692,341 (GRCm39) E87* probably null Het
Arhgap29 A G 3: 121,767,578 (GRCm39) K7E probably damaging Het
Brca2 T A 5: 150,466,114 (GRCm39) D1959E probably benign Het
Cdc42se2 A G 11: 54,611,192 (GRCm39) probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chil5 G T 3: 105,925,409 (GRCm39) Q171K probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dhrs7c A T 11: 67,702,476 (GRCm39) I155F probably damaging Het
Dip2c A G 13: 9,603,300 (GRCm39) probably null Het
Ell T A 8: 71,044,138 (GRCm39) probably benign Het
Fam124b T C 1: 80,191,056 (GRCm39) Y109C possibly damaging Het
Gak T A 5: 108,739,011 (GRCm39) K156M probably damaging Het
Gm9797 C A 10: 11,485,294 (GRCm39) noncoding transcript Het
Got1l1 C G 8: 27,690,745 (GRCm39) probably null Het
Grm1 T C 10: 10,955,879 (GRCm39) D135G probably benign Het
Hrh3 T G 2: 179,744,547 (GRCm39) D131A probably damaging Het
Itpr1 A T 6: 108,366,514 (GRCm39) Q979L probably null Het
Kdm7a C A 6: 39,128,187 (GRCm39) probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Lingo2 A T 4: 35,709,420 (GRCm39) C187S possibly damaging Het
Lrp1 T A 10: 127,417,760 (GRCm39) probably null Het
Ltbp4 T C 7: 27,028,464 (GRCm39) N266S unknown Het
Mgam G A 6: 40,643,815 (GRCm39) S581N possibly damaging Het
Mrgpra9 T A 7: 46,885,386 (GRCm39) I94L probably benign Het
Msantd4 A T 9: 4,384,023 (GRCm39) I115F probably benign Het
Mterf3 A G 13: 67,077,944 (GRCm39) probably benign Het
Neurl1a C A 19: 47,242,150 (GRCm39) N414K probably damaging Het
Nfkbiz A G 16: 55,636,833 (GRCm39) probably benign Het
Nrxn1 A C 17: 90,950,481 (GRCm39) L566R probably benign Het
Nsmce1 A G 7: 125,067,027 (GRCm39) probably benign Het
Or5p59 T A 7: 107,702,822 (GRCm39) I102N probably benign Het
Prl7d1 A T 13: 27,893,180 (GRCm39) F243I possibly damaging Het
Rbm27 T C 18: 42,450,746 (GRCm39) S509P probably damaging Het
Rnf126 C T 10: 79,596,702 (GRCm39) A239T probably benign Het
Rnf44 C T 13: 54,829,821 (GRCm39) E306K probably damaging Het
Rp1 T C 1: 4,416,520 (GRCm39) R1531G possibly damaging Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Syt15 C A 14: 33,943,159 (GRCm39) probably benign Het
Vcan T A 13: 89,836,603 (GRCm39) E2980D probably benign Het
Vps13b A G 15: 35,709,268 (GRCm39) probably benign Het
Vwa2 C T 19: 56,869,570 (GRCm39) P2S unknown Het
Wdr77 G A 3: 105,874,573 (GRCm39) V322I possibly damaging Het
Zfp12 C A 5: 143,230,535 (GRCm39) Y287* probably null Het
Zfp937 T A 2: 150,080,868 (GRCm39) Y299* probably null 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
R3705:Sf3b4 UTSW 3 96,083,944 (GRCm39) unclassified probably benign
R5305:Sf3b4 UTSW 3 96,080,958 (GRCm39) missense probably damaging 1.00
R6360:Sf3b4 UTSW 3 96,084,044 (GRCm39) unclassified probably benign
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'- AGCGCCTTTGGAATGAGCAACC -3'
(R):5'- AACCCTTGGAGTTGCCTGTGTC -3'

Sequencing Primer
(F):5'- tccacctgcctctgctac -3'
(R):5'- AGTTGCCTGTGTCAGGGTC -3'
Posted On 2014-05-09