Incidental Mutation 'R3826:Sap18b'
ID 275413
Institutional Source Beutler Lab
Gene Symbol Sap18b
Ensembl Gene ENSMUSG00000061104
Gene Name Sin3-associated polypeptide 18B
Synonyms Gm10094
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R3826 (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 96552185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 65 (F65S)
Ref Sequence ENSEMBL: ENSMUSP00000073697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074053]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074053
AA Change: F65S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073697
Gene: ENSMUSG00000061104
AA Change: F65S

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,896 (GRCm39) S197T possibly damaging Het
Actl6b T C 5: 137,565,535 (GRCm39) L377P probably damaging Het
Apc C A 18: 34,412,388 (GRCm39) Q236K possibly damaging Het
Atn1 G A 6: 124,723,182 (GRCm39) probably benign Het
Ccr3 A G 9: 123,829,714 (GRCm39) T350A possibly damaging Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Chd2 A G 7: 73,141,163 (GRCm39) Y577H possibly damaging Het
Col1a2 A G 6: 4,516,960 (GRCm39) probably benign Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cplane2 C T 4: 140,945,900 (GRCm39) R148C probably damaging Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dlec1 T C 9: 118,972,129 (GRCm39) probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Ffar2 A T 7: 30,519,510 (GRCm39) I10N possibly damaging Het
Gas2 T C 7: 51,586,367 (GRCm39) probably null Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hgfac C A 5: 35,205,506 (GRCm39) D595E probably damaging Het
Kcnj10 A T 1: 172,197,616 (GRCm39) S377C probably damaging Het
Kcnq2 C T 2: 180,746,693 (GRCm39) V369I possibly damaging Het
Kcnt1 T C 2: 25,805,880 (GRCm39) probably null Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Mcts1 T C X: 37,691,445 (GRCm39) probably benign Het
Muc21 A G 17: 35,932,504 (GRCm39) probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or5t17 T A 2: 86,832,388 (GRCm39) I25K probably damaging Het
Or9g4b C T 2: 85,616,559 (GRCm39) R235* probably null Het
Panx2 A G 15: 88,952,664 (GRCm39) D377G probably damaging Het
Pcdhb10 C A 18: 37,545,470 (GRCm39) T182N probably damaging Het
Pdha2 G T 3: 140,916,889 (GRCm39) F206L possibly damaging Het
Pgd T C 4: 149,250,461 (GRCm39) probably benign Het
Pgs1 C T 11: 117,910,584 (GRCm39) probably null Het
Rere T C 4: 150,554,785 (GRCm39) V161A probably benign Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Rubcnl C T 14: 75,269,665 (GRCm39) L108F possibly damaging Het
Scap A G 9: 110,210,365 (GRCm39) M925V probably benign Het
Slc7a8 A G 14: 54,975,029 (GRCm39) I200T probably damaging Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Trio T A 15: 27,833,156 (GRCm39) K75N probably damaging Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably damaging Het
Zfp37 T C 4: 62,110,800 (GRCm39) N88S probably benign Het
Zswim8 C T 14: 20,761,157 (GRCm39) R142* probably null 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
R4001:Sap18b UTSW 8 96,552,068 (GRCm39) missense probably benign 0.04
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'- GTGTCACAGGACTAGCTCATGC -3'
(R):5'- GGTGCTGCCAATCTCCTTAAC -3'

Sequencing Primer
(F):5'- CAGGGGTCGGAGGTCAG -3'
(R):5'- AATCTCCTTAACTCGATATCCAGG -3'
Posted On 2015-04-02