Incidental Mutation 'R7015:Ss18l2'
ID 545260
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 045116-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R7015 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121539455-121541987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121541674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 64 (I64F)
Ref Sequence ENSEMBL: ENSMUSP00000035113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035113] [ENSMUST00000215104] [ENSMUST00000215833] [ENSMUST00000215966]
AlphaFold Q9D174
Predicted Effect probably damaging
Transcript: ENSMUST00000035113
AA Change: I64F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035113
Gene: ENSMUSG00000032526
AA Change: I64F

DomainStartEndE-ValueType
Pfam:SSXT 13 74 4e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215104
AA Change: I56F

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215833
AA Change: H51L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000215966
Meta Mutation Damage Score 0.7299 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 93% (55/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,902,738 (GRCm39) R3G possibly damaging Het
Abcc2 A G 19: 43,786,617 (GRCm39) I150V probably benign Het
Adgrb1 T C 15: 74,445,959 (GRCm39) L1085P probably damaging Het
Agbl4 A G 4: 110,335,697 (GRCm39) N24D probably damaging Het
Aox1 A G 1: 58,321,917 (GRCm39) T70A probably benign Het
Aplf G A 6: 87,618,884 (GRCm39) A399V probably damaging Het
Asxl3 A G 18: 22,656,978 (GRCm39) S1663G probably benign Het
Bcat1 G C 6: 144,985,309 (GRCm39) P43R probably damaging Het
Camk1 T C 6: 113,318,887 (GRCm39) R9G probably benign Het
Casp8ap2 T C 4: 32,644,278 (GRCm39) V1117A probably damaging Het
Cd300ld4 A T 11: 114,913,533 (GRCm39) V174E probably benign Het
Cep85l T C 10: 53,225,151 (GRCm39) D146G possibly damaging Het
Clip1 T C 5: 123,751,675 (GRCm39) probably benign Het
Cog3 C T 14: 75,950,716 (GRCm39) V719I possibly damaging Het
Col4a4 G A 1: 82,484,671 (GRCm39) P532L unknown Het
Col6a4 C T 9: 105,910,954 (GRCm39) probably null Het
Dync1h1 C T 12: 110,632,521 (GRCm39) Q4547* probably null Het
Ergic1 G A 17: 26,873,853 (GRCm39) probably benign Het
Foxn4 G A 5: 114,394,916 (GRCm39) T337M possibly damaging Het
Gemin5 A T 11: 58,047,566 (GRCm39) I336N probably damaging Het
Gm21905 A T 5: 68,103,705 (GRCm39) probably null Het
Grik2 C A 10: 49,411,532 (GRCm39) R202L probably damaging Het
Iglon5 T C 7: 43,126,351 (GRCm39) D184G probably benign Het
Il11ra1 A T 4: 41,765,421 (GRCm39) Q172L probably benign Het
Me2 G T 18: 73,914,218 (GRCm39) probably null Het
Med24 A G 11: 98,609,678 (GRCm39) V73A possibly damaging Het
Mmp24 A G 2: 155,634,544 (GRCm39) Q88R probably damaging Het
Mroh3 A T 1: 136,111,069 (GRCm39) V819E probably damaging Het
Mrps9 A G 1: 42,937,706 (GRCm39) K247R probably benign Het
Myo15b G A 11: 115,762,670 (GRCm39) R1254H Het
Ncoa5 A G 2: 164,844,001 (GRCm39) L134P probably benign Het
Or4d5 A T 9: 40,012,751 (GRCm39) F12I probably benign Het
Or51e2 C A 7: 102,391,651 (GRCm39) L186F probably damaging Het
Or52a24 T C 7: 103,382,024 (GRCm39) V297A probably null Het
Pdcd11 A G 19: 47,086,665 (GRCm39) I224V probably benign Het
Ptprh C A 7: 4,555,626 (GRCm39) probably null Het
Rab34 G T 11: 78,080,978 (GRCm39) V63F probably damaging Het
Rack1 T C 11: 48,692,592 (GRCm39) I71T probably benign Het
Rai14 G A 15: 10,589,401 (GRCm39) R266* probably null Het
Rsph9 A G 17: 46,440,382 (GRCm39) V238A probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sel1l3 A T 5: 53,329,916 (GRCm39) C480S probably benign Het
Sh3pxd2a C T 19: 47,256,562 (GRCm39) A747T probably benign Het
Slc1a3 T C 15: 8,679,052 (GRCm39) N181S probably damaging Het
Slit1 T A 19: 41,618,325 (GRCm39) K784* probably null Het
Sos2 T A 12: 69,632,009 (GRCm39) Q1297L probably benign Het
Srd5a2 T A 17: 74,334,114 (GRCm39) T102S probably benign Het
Tas2r120 T C 6: 132,634,128 (GRCm39) F70S possibly damaging Het
Tjap1 G A 17: 46,574,700 (GRCm39) A5V possibly damaging Het
Tln2 A T 9: 67,269,929 (GRCm39) M488K possibly damaging Het
Tnks T G 8: 35,305,701 (GRCm39) I42L probably benign Het
Togaram2 A T 17: 72,016,563 (GRCm39) Q640L possibly damaging Het
Triobp C A 15: 78,878,260 (GRCm39) Q1682K probably damaging Het
Trip11 C T 12: 101,859,942 (GRCm39) E311K probably damaging Het
Ugt2b5 A G 5: 87,287,655 (GRCm39) Y171H probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Zfp990 G T 4: 145,263,205 (GRCm39) D68Y probably damaging Het
Zranb2 A T 3: 157,242,370 (GRCm39) probably null Het
Other mutations in Ss18l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02685:Ss18l2 APN 9 121,539,484 (GRCm39) missense possibly damaging 0.92
R0094:Ss18l2 UTSW 9 121,541,699 (GRCm39) missense probably benign 0.01
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
R7983:Ss18l2 UTSW 9 121,541,675 (GRCm39) missense probably damaging 0.98
R9542:Ss18l2 UTSW 9 121,541,666 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTTTGAAGACAGCCAAGGC -3'
(R):5'- TCAGGTTCTACCGTGGGATCTG -3'

Sequencing Primer
(F):5'- GCCAAGGCTATAGTAAGACCATTTG -3'
(R):5'- TAGTCAGAATACAGTAGAGTTGGTAG -3'
Posted On 2019-05-13