Incidental Mutation 'R4001:Sap18b'
ID 312476
Institutional Source Beutler Lab
Gene Symbol Sap18b
Ensembl Gene ENSMUSG00000061104
Gene Name Sin3-associated polypeptide 18B
Synonyms Gm10094
MMRRC Submission 040844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4001 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96551974-96552762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96552068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 26 (V26A)
Ref Sequence ENSEMBL: ENSMUSP00000073697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074053]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074053
AA Change: V26A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000073697
Gene: ENSMUSG00000061104
AA Change: V26A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (28/28)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C A 8: 111,768,234 (GRCm39) H202N probably damaging Het
Aipl1 T A 11: 71,922,428 (GRCm39) T94S probably damaging Het
Cdhr2 A T 13: 54,866,079 (GRCm39) E293V probably benign Het
Chd9 C T 8: 91,683,185 (GRCm39) R542C probably damaging Het
Clip4 A T 17: 72,106,071 (GRCm39) I85L probably damaging Het
Cntnap5c G A 17: 58,714,735 (GRCm39) probably null Het
Fbn1 A G 2: 125,319,415 (GRCm39) probably null Het
Hivep2 A G 10: 14,003,476 (GRCm39) R25G probably damaging Het
Klhdc7b A G 15: 89,272,187 (GRCm39) N1023S probably damaging Het
Lipi T A 16: 75,370,759 (GRCm39) R153* probably null Het
Lpcat4 A T 2: 112,070,296 (GRCm39) Q3L probably benign Het
Naa16 C A 14: 79,580,561 (GRCm39) probably null Het
Nalcn G T 14: 123,834,006 (GRCm39) N56K probably damaging Het
Obscn C G 11: 59,025,395 (GRCm39) A412P probably damaging Het
Or1e23 A G 11: 73,407,812 (GRCm39) L71P probably damaging Het
Pde8a T A 7: 80,967,104 (GRCm39) L415Q probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Rbms2 C T 10: 127,987,169 (GRCm39) S13N probably benign Het
Rgsl1 A G 1: 153,693,330 (GRCm39) L617P probably damaging Het
Senp2 T C 16: 21,847,318 (GRCm39) L282P possibly damaging Het
Srcap T C 7: 127,131,339 (GRCm39) M826T probably damaging Het
Tmc3 T C 7: 83,269,271 (GRCm39) S820P probably benign Het
Tmprss3 T C 17: 31,405,533 (GRCm39) N353S probably damaging Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Trp53bp1 A G 2: 121,035,566 (GRCm39) S1562P probably damaging Het
Uaca G A 9: 60,778,366 (GRCm39) V916I probably benign 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
R5374:Sap18b UTSW 8 96,551,998 (GRCm39) missense unknown
R5596: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'- GCTTCCACGATGAGAAGTTTTC -3'
(R):5'- GTTGCATCCATCCAGGTGTAGATC -3'

Sequencing Primer
(F):5'- CCACGATGAGAAGTTTTCTGTTC -3'
(R):5'- ATCCATCCAGGTGTAGATCTGCAG -3'
Posted On 2015-04-29