Incidental Mutation 'R0094:Ss18l2'
ID 16882
Institutional Source Beutler Lab
Gene Symbol Ss18l2
Ensembl Gene ENSMUSG00000032526
Gene Name SS18, nBAF chromatin remodeling complex subunit like 2
Synonyms Band 47B, Deb1, 1110020I04Rik
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 121539455-121541987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121541699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 64 (L64P)
Ref Sequence ENSEMBL: ENSMUSP00000148939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035113] [ENSMUST00000215104] [ENSMUST00000215833] [ENSMUST00000215966]
AlphaFold Q9D174
Predicted Effect probably benign
Transcript: ENSMUST00000035113
AA Change: L72P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035113
Gene: ENSMUSG00000032526
AA Change: L72P

DomainStartEndE-ValueType
Pfam:SSXT 13 74 4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214535
Predicted Effect probably benign
Transcript: ENSMUST00000215104
AA Change: L64P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect silent
Transcript: ENSMUST00000215833
Predicted Effect probably benign
Transcript: ENSMUST00000215966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217579
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Dap3 T A 3: 88,834,335 (GRCm39) M294L probably benign Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Eif2b1 A G 5: 124,709,829 (GRCm39) F250L probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Ranbp3 A G 17: 57,016,338 (GRCm39) probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in Ss18l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02685:Ss18l2 APN 9 121,539,484 (GRCm39) missense possibly damaging 0.92
R6335:Ss18l2 UTSW 9 121,541,672 (GRCm39) missense probably damaging 1.00
R6986:Ss18l2 UTSW 9 121,541,671 (GRCm39) missense probably damaging 1.00
R7015:Ss18l2 UTSW 9 121,541,674 (GRCm39) missense probably damaging 0.99
R7983:Ss18l2 UTSW 9 121,541,675 (GRCm39) missense probably damaging 0.98
R9542:Ss18l2 UTSW 9 121,541,666 (GRCm39) nonsense probably null
Posted On 2013-01-20