Incidental Mutation 'IGL03294:Sap30'
ID 416010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sap30
Ensembl Gene ENSMUSG00000031609
Gene Name sin3 associated polypeptide
Synonyms 30kDa
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # IGL03294
Quality Score
Status
Chromosome 8
Chromosomal Location 57935740-57940874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57940335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 89 (I89T)
Ref Sequence ENSEMBL: ENSMUSP00000034022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034022]
AlphaFold O88574
PDB Structure Solution structure of the mSin3A PAH3-SAP30 SID complex [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000034022
AA Change: I89T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034022
Gene: ENSMUSG00000031609
AA Change: I89T

DomainStartEndE-ValueType
Pfam:zf-SAP30 63 133 3e-39 PFAM
Pfam:SAP30_Sin3_bdg 153 205 1.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180690
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,047,315 (GRCm39) M119L probably benign Het
Akap10 A T 11: 61,768,179 (GRCm39) V646D probably damaging Het
Aldh3a1 A G 11: 61,105,548 (GRCm39) Y218C probably damaging Het
Arfgef3 T A 10: 18,540,660 (GRCm39) L174F probably damaging Het
Arhgef6 T C X: 56,382,338 (GRCm39) K99E possibly damaging Het
Atp9a T C 2: 168,531,225 (GRCm39) K163E probably benign Het
Birc6 C T 17: 74,956,881 (GRCm39) A3605V probably benign Het
C8b G A 4: 104,637,888 (GRCm39) R120Q probably benign Het
Ccr1l1 A C 9: 123,778,444 (GRCm39) M1R probably null Het
Clca3a2 A G 3: 144,803,530 (GRCm39) S105P probably damaging Het
Cntnap1 A G 11: 101,072,508 (GRCm39) T502A possibly damaging Het
Ddx10 C T 9: 53,028,452 (GRCm39) probably null Het
Dnah5 G A 15: 28,233,441 (GRCm39) probably null Het
Dock9 A T 14: 121,879,035 (GRCm39) probably benign Het
Gli2 A G 1: 118,765,166 (GRCm39) V995A probably benign Het
Gpr34 T C X: 13,505,788 (GRCm39) Y106H probably damaging Het
Kmt2a A T 9: 44,731,862 (GRCm39) probably benign Het
Lamc1 C A 1: 153,138,392 (GRCm39) R154L probably damaging Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Meioc A T 11: 102,571,495 (GRCm39) E943V probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Nav2 C T 7: 49,141,205 (GRCm39) R917* probably null Het
Or4f47 T C 2: 111,972,518 (GRCm39) I76T probably benign Het
Or7g32 T C 9: 19,389,285 (GRCm39) N87S possibly damaging Het
Pcsk9 T A 4: 106,303,967 (GRCm39) I506L probably benign Het
Phf14 T A 6: 11,953,366 (GRCm39) D368E probably damaging Het
Phka1 C A X: 101,580,819 (GRCm39) S964I probably damaging Het
Pikfyve G A 1: 65,286,226 (GRCm39) R1155Q probably damaging Het
Plin2 C T 4: 86,580,315 (GRCm39) V60M probably damaging Het
Ptpn9 A G 9: 56,934,671 (GRCm39) Q145R possibly damaging Het
Sec61a2 T C 2: 5,881,276 (GRCm39) probably null Het
Slc34a2 A C 5: 53,221,340 (GRCm39) D262A probably benign Het
Slc6a3 G A 13: 73,705,300 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,400 (GRCm39) T63S probably benign Het
Tbx10 A T 19: 4,048,571 (GRCm39) probably benign Het
Tie1 A T 4: 118,337,420 (GRCm39) N501K probably damaging Het
Tmprss11f A T 5: 86,685,966 (GRCm39) Y134N probably damaging Het
Uevld A T 7: 46,580,778 (GRCm39) D361E possibly damaging Het
Ugt1a5 A C 1: 88,094,537 (GRCm39) D255A probably damaging Het
Vmn2r11 A G 5: 109,201,935 (GRCm39) F190L probably benign Het
Wfs1 G A 5: 37,132,941 (GRCm39) R113C probably damaging Het
Yipf5 T G 18: 40,339,449 (GRCm39) M206L probably benign Het
Zbtb10 A G 3: 9,346,047 (GRCm39) D847G probably benign Het
Zfp786 T A 6: 47,798,258 (GRCm39) K227* probably null Het
Other mutations in Sap30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Sap30 APN 8 57,938,123 (GRCm39) missense possibly damaging 0.95
E0374:Sap30 UTSW 8 57,938,095 (GRCm39) missense probably damaging 1.00
R0125:Sap30 UTSW 8 57,938,545 (GRCm39) missense probably null 0.99
R0570:Sap30 UTSW 8 57,936,000 (GRCm39) missense possibly damaging 0.95
R1905:Sap30 UTSW 8 57,940,345 (GRCm39) missense probably damaging 0.99
R2056:Sap30 UTSW 8 57,940,282 (GRCm39) splice site probably null
R2201:Sap30 UTSW 8 57,938,506 (GRCm39) splice site probably null
R6234:Sap30 UTSW 8 57,938,152 (GRCm39) missense probably damaging 0.99
R7428:Sap30 UTSW 8 57,940,546 (GRCm39) missense possibly damaging 0.96
R8948:Sap30 UTSW 8 57,940,456 (GRCm39) missense possibly damaging 0.70
R9653:Sap30 UTSW 8 57,938,156 (GRCm39) nonsense probably null
Posted On 2016-08-02