Incidental Mutation 'R5596:Sap18b'
ID 437835
Institutional Source Beutler Lab
Gene Symbol Sap18b
Ensembl Gene ENSMUSG00000061104
Gene Name Sin3-associated polypeptide 18B
Synonyms Gm10094
MMRRC Submission 043148-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R5596 (G1)
Quality Score 191
Status Validated
Chromosome 8
Chromosomal Location 96551974-96552762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96551998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 3 (A3S)
Ref Sequence ENSEMBL: ENSMUSP00000073697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074053]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000074053
AA Change: A3S
SMART Domains Protein: ENSMUSP00000073697
Gene: ENSMUSG00000061104
AA Change: A3S

DomainStartEndE-ValueType
Pfam:SAP18 38 156 2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211921
Meta Mutation Damage Score 0.1018 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.9%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: This intronless gene is highly similar to the multi-exon Sap18 gene on chromosome 14, whose product functions in transcriptional repression as a component of the Sin3 histone deacetylase complex. This gene may possibly be a Sap18 pseudogene, but it is represented as protein-coding because it appears to be transcribed and has an intact ORF that would result in a protein that is 100% identical to the Sap18 protein. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,000,972 (GRCm39) M1503V possibly damaging Het
Abraxas1 A T 5: 100,966,403 (GRCm39) V53D probably damaging Het
Bub1b T C 2: 118,461,463 (GRCm39) S672P probably damaging Het
C1qtnf7 A T 5: 43,673,313 (GRCm39) probably benign Het
Cacng7 A T 7: 3,415,420 (GRCm39) I262F probably benign Het
Capzb T G 4: 139,006,738 (GRCm39) probably benign Het
Ccdc149 A G 5: 52,561,493 (GRCm39) V229A probably damaging Het
Cfap69 A G 5: 5,676,020 (GRCm39) L225P probably damaging Het
Cftr A G 6: 18,268,095 (GRCm39) T685A probably benign Het
Col12a1 G A 9: 79,611,041 (GRCm39) T177M probably damaging Het
Creb3l3 T G 10: 80,920,881 (GRCm39) D383A probably benign Het
Cyp2j8 T A 4: 96,395,578 (GRCm39) I16F probably benign Het
Dnah5 G T 15: 28,343,754 (GRCm39) A2385S probably damaging Het
Enox1 A G 14: 77,816,493 (GRCm39) I158V probably benign Het
Erich3 A T 3: 154,433,033 (GRCm39) T139S probably damaging Het
Fam186b A T 15: 99,169,170 (GRCm39) S926T possibly damaging Het
Gjd2 C A 2: 113,841,965 (GRCm39) V171F possibly damaging Het
Helz2 A T 2: 180,879,082 (GRCm39) probably benign Het
Herc1 T TTN 9: 66,341,345 (GRCm39) probably benign Het
Impg1 A T 9: 80,252,500 (GRCm39) V483E probably benign Het
Irx4 A G 13: 73,415,799 (GRCm39) N196S probably damaging Het
Kcnip1 T C 11: 33,580,597 (GRCm39) D213G probably damaging Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Med12l T A 3: 59,159,771 (GRCm39) N1273K probably benign Het
Musk T C 4: 58,373,036 (GRCm39) C654R probably damaging Het
Nlrp4d A T 7: 10,115,951 (GRCm39) S274T noncoding transcript Het
Omd A G 13: 49,745,814 (GRCm39) H408R probably benign Het
Pbld2 C T 10: 62,907,791 (GRCm39) A219V probably damaging Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Pramel32 C T 4: 88,548,292 (GRCm39) E38K probably damaging Het
Ptpn1 T C 2: 167,816,683 (GRCm39) I246T probably damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Sstr4 G T 2: 148,237,652 (GRCm39) V88F possibly damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tmcc2 T C 1: 132,288,221 (GRCm39) N489D probably damaging Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Tnxb T A 17: 34,907,778 (GRCm39) V1274E probably damaging Het
Ube3b T A 5: 114,544,221 (GRCm39) probably null Het
Vwa5a A T 9: 38,633,874 (GRCm39) I26F probably damaging Het
Other mutations in Sap18b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Sap18b APN 8 96,552,329 (GRCm39) missense probably benign 0.00
R1791:Sap18b UTSW 8 96,552,342 (GRCm39) missense probably benign 0.00
R2358:Sap18b UTSW 8 96,552,191 (GRCm39) missense probably benign 0.02
R3826:Sap18b UTSW 8 96,552,185 (GRCm39) missense probably damaging 1.00
R4001:Sap18b UTSW 8 96,552,068 (GRCm39) missense probably benign 0.04
R5374:Sap18b UTSW 8 96,551,998 (GRCm39) missense unknown
R6274:Sap18b UTSW 8 96,552,169 (GRCm39) missense probably benign 0.06
R9626:Sap18b UTSW 8 96,552,098 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TTTGCAATGAACAGCTGCAGG -3'
(R):5'- AGAACTCGTCCATTCGGTG -3'

Sequencing Primer
(F):5'- CTGCAGGTGAAGATGTGTGACC -3'
(R):5'- CCATTCGGTGGTGGCGG -3'
Posted On 2016-10-26