Incidental Mutation 'R2358:Sap18b'
ID 247020
Institutional Source Beutler Lab
Gene Symbol Sap18b
Ensembl Gene ENSMUSG00000061104
Gene Name Sin3-associated polypeptide 18B
Synonyms Gm10094
MMRRC Submission 040340-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R2358 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 96551974-96552762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96552191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 67 (R67H)
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: R67H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000073697
Gene: ENSMUSG00000061104
AA Change: R67H

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,215,368 (GRCm39) probably null Het
Aif1l T A 2: 31,859,763 (GRCm39) F94L probably damaging Het
Ankzf1 C T 1: 75,171,895 (GRCm39) H209Y probably damaging Het
Ate1 A T 7: 130,117,895 (GRCm39) M30K probably damaging Het
Cd27 A G 6: 125,210,281 (GRCm39) Y189H probably damaging Het
Cela1 A G 15: 100,579,109 (GRCm39) I183T probably benign Het
Copg2 A T 6: 30,803,168 (GRCm39) L259* probably null Het
Dennd2b A T 7: 109,155,653 (GRCm39) S366T probably benign Het
Efcab7 T A 4: 99,719,823 (GRCm39) probably benign Het
Fcrl5 A G 3: 87,353,726 (GRCm39) E357G probably damaging Het
Fzr1 C T 10: 81,203,474 (GRCm39) probably null Het
Il12rb2 C T 6: 67,275,179 (GRCm39) A649T probably damaging Het
Itfg1 C A 8: 86,464,758 (GRCm39) V438F probably damaging Het
Jaml A C 9: 45,012,361 (GRCm39) I283L possibly damaging Het
Kif28 A T 1: 179,537,024 (GRCm39) H486Q probably damaging Het
Lrch4 A G 5: 137,636,810 (GRCm39) probably benign Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp4 T A 2: 91,332,299 (GRCm39) N1665K probably benign Het
Mrpl32 A T 13: 14,785,165 (GRCm39) V157E probably damaging Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Nlrp4a A G 7: 26,163,623 (GRCm39) D930G probably benign Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or5d47 A T 2: 87,804,066 (GRCm39) N314K probably benign Het
Or7a35 T C 10: 78,854,022 (GRCm39) F289L probably damaging Het
Ovch2 A T 7: 107,394,122 (GRCm39) H110Q probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pi4k2a G A 19: 42,079,131 (GRCm39) R64Q probably damaging Het
Ptpn12 G A 5: 21,203,690 (GRCm39) P363S probably damaging Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Ripor3 A G 2: 167,825,785 (GRCm39) probably benign Het
Rpl13-ps3 A G 14: 59,131,265 (GRCm39) noncoding transcript Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Shmt2 T C 10: 127,353,897 (GRCm39) T459A probably benign Het
Siglecg A G 7: 43,058,846 (GRCm39) S200G possibly damaging Het
Slc6a15 T G 10: 103,252,646 (GRCm39) I603S probably benign Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Spata31d1a G A 13: 59,851,702 (GRCm39) S142L probably benign Het
Spopfm2 G A 3: 94,082,854 (GRCm39) A319V possibly damaging Het
Spopfm2 C A 3: 94,082,855 (GRCm39) A319S possibly damaging Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Strip1 A G 3: 107,523,135 (GRCm39) V633A probably benign Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Terb2 T A 2: 122,028,913 (GRCm39) C157S probably benign Het
Themis T A 10: 28,739,376 (GRCm39) N615K possibly damaging Het
Tlnrd1 A T 7: 83,531,488 (GRCm39) D314E probably benign Het
Vmn1r205 T A 13: 22,776,566 (GRCm39) T179S probably benign Het
Vsig10l G A 7: 43,118,185 (GRCm39) R689H probably benign Het
Wt1 G A 2: 104,993,773 (GRCm39) probably benign Het
Zfp423 G T 8: 88,507,179 (GRCm39) A1034D possibly damaging Het
Zfy2 T C Y: 2,107,272 (GRCm39) E454G possibly damaging Het
Zyg11a G T 4: 108,053,343 (GRCm39) Q440K possibly 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
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
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'- GTGTCACAGGACTAGCTCATG -3'
(R):5'- AGTCATCAGTGCCCTTCCTG -3'

Sequencing Primer
(F):5'- TCGGAGGTCAGGGCGAG -3'
(R):5'- GGTGCTGCCAATCTCCTTAAC -3'
Posted On 2014-10-30