Incidental Mutation 'R6234:Sap30'
ID 504823
Institutional Source Beutler Lab
Gene Symbol Sap30
Ensembl Gene ENSMUSG00000031609
Gene Name sin3 associated polypeptide
Synonyms 30kDa
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 57935740-57940874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57938152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 155 (V155A)
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: V155A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034022
Gene: ENSMUSG00000031609
AA Change: V155A

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
Meta Mutation Damage Score 0.2752 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Other mutations in Sap30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Sap30 APN 8 57,938,123 (GRCm39) missense possibly damaging 0.95
IGL03294:Sap30 APN 8 57,940,335 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AGAGCTTTCCTAGGTGGCAG -3'
(R):5'- CCGGAAGTTTACAATATGTATCCC -3'

Sequencing Primer
(F):5'- GGTGGCAGATAGATGTTTCTAAAC -3'
(R):5'- GTACAGGTCTGAGTGTGTAAAT -3'
Posted On 2018-02-28