Incidental Mutation 'R8192:Ss18l1'
ID 635203
Institutional Source Beutler Lab
Gene Symbol Ss18l1
Ensembl Gene ENSMUSG00000039086
Gene Name SS18, nBAF chromatin remodeling complex subunit like 1
Synonyms CREST, A230053O16Rik
MMRRC Submission 067615-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # R8192 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 179684302-179711994 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179701155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 290 (S290P)
Ref Sequence ENSEMBL: ENSMUSP00000041288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041126]
AlphaFold Q8BW22
Predicted Effect probably damaging
Transcript: ENSMUST00000041126
AA Change: S290P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041288
Gene: ENSMUSG00000039086
AA Change: S290P

DomainStartEndE-ValueType
Pfam:SSXT 13 74 4.3e-35 PFAM
low complexity region 85 106 N/A INTRINSIC
low complexity region 215 238 N/A INTRINSIC
low complexity region 244 251 N/A INTRINSIC
low complexity region 311 375 N/A INTRINSIC
low complexity region 390 402 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have central nervous system and coordination defects. They grow slowly and usually die before adulthood. Those that do survive are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,970 (GRCm39) D558E probably damaging Het
Alox15 T A 11: 70,241,736 (GRCm39) E48D probably benign Het
Alyref T C 11: 120,488,522 (GRCm39) E102G probably benign Het
Bach2 A G 4: 32,562,294 (GRCm39) S254G probably benign Het
Bcl2l13 A G 6: 120,853,267 (GRCm39) E184G possibly damaging Het
Best1 T A 19: 9,963,664 (GRCm39) I506F possibly damaging Het
Cd177 T A 7: 24,453,727 (GRCm39) D388V probably benign Het
Cep350 T C 1: 155,816,529 (GRCm39) K329E possibly damaging Het
Clasrp T C 7: 19,329,387 (GRCm39) N65S possibly damaging Het
Cobl T C 11: 12,199,745 (GRCm39) R1301G probably benign Het
Cul9 T C 17: 46,849,273 (GRCm39) E624G probably benign Het
Cyp21a1 A T 17: 35,022,633 (GRCm39) Y109N probably damaging Het
Dbf4 A G 5: 8,448,134 (GRCm39) S359P probably benign Het
Ddx60 A G 8: 62,431,002 (GRCm39) T846A probably damaging Het
Dnah11 A G 12: 117,976,181 (GRCm39) V2746A probably benign Het
Dnah12 G A 14: 26,428,036 (GRCm39) A221T probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Dock2 A G 11: 34,623,166 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,362,023 (GRCm39) I119V possibly damaging Het
Dsg1c A G 18: 20,399,255 (GRCm39) T120A probably damaging Het
Dzank1 T C 2: 144,332,145 (GRCm39) H397R probably benign Het
Gaa G T 11: 119,161,235 (GRCm39) A93S possibly damaging Het
Galnt4 G A 10: 98,945,118 (GRCm39) R281H probably benign Het
Gm3250 T C 10: 77,618,291 (GRCm39) E29G unknown Het
H13 T G 2: 152,511,522 (GRCm39) D7E probably benign Het
H60c T A 10: 3,209,781 (GRCm39) I140F probably benign Het
Hsd3b2 T C 3: 98,620,908 (GRCm39) N49S probably benign Het
Klhl11 G T 11: 100,354,922 (GRCm39) P300T probably benign Het
Knop1 C A 7: 118,452,369 (GRCm39) V117L Het
Lgalsl2 T A 7: 5,362,595 (GRCm39) D75E possibly damaging Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Macf1 A G 4: 123,334,390 (GRCm39) S4456P probably damaging Het
Mkrn1 A T 6: 39,376,289 (GRCm39) V439D probably damaging Het
Muc2 T A 7: 141,305,215 (GRCm39) V612D Het
Nrxn3 A G 12: 90,171,569 (GRCm39) N967D probably benign Het
Oprm1 C T 10: 6,788,417 (GRCm39) P391S probably benign Het
Or10g7 T A 9: 39,905,467 (GRCm39) D120E probably damaging Het
Or5d43 A C 2: 88,105,288 (GRCm39) V35G probably damaging Het
Parp14 T A 16: 35,691,584 (GRCm39) E47V probably benign Het
Pikfyve A G 1: 65,285,554 (GRCm39) E931G possibly damaging Het
Plcz1 A T 6: 139,968,986 (GRCm39) C151S probably damaging Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Pramel27 G A 4: 143,578,109 (GRCm39) W123* probably null Het
Rbm26 A G 14: 105,380,125 (GRCm39) probably null Het
Rffl G T 11: 82,703,549 (GRCm39) probably null Het
Sc5d T C 9: 42,171,094 (GRCm39) I32V probably benign Het
Scube1 A G 15: 83,513,583 (GRCm39) probably null Het
Shld2 A T 14: 33,967,173 (GRCm39) S680T probably benign Het
Slc12a6 A G 2: 112,181,722 (GRCm39) Y714C probably damaging Het
Slc26a3 A G 12: 31,518,541 (GRCm39) I670V probably benign Het
Slc8a3 A T 12: 81,246,455 (GRCm39) V866D probably damaging Het
Slco3a1 A T 7: 73,970,338 (GRCm39) M423K probably benign Het
Smc6 A G 12: 11,349,336 (GRCm39) E773G probably benign Het
Son A G 16: 91,452,437 (GRCm39) T395A possibly damaging Het
Tcof1 A C 18: 60,976,375 (GRCm39) V78G probably damaging Het
Thsd1 G A 8: 22,733,918 (GRCm39) V322M probably benign Het
Tln2 A T 9: 67,253,811 (GRCm39) C753* probably null Het
Trav6n-6 T A 14: 53,370,497 (GRCm39) F83I probably damaging Het
Ttc39d A G 17: 80,524,007 (GRCm39) H222R probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Upf1 A G 8: 70,793,294 (GRCm39) L288P probably benign Het
Zfp442 T C 2: 150,250,629 (GRCm39) I424M unknown Het
Zfp580 T C 7: 5,056,114 (GRCm39) V100A probably benign Het
Zfpm1 C A 8: 123,058,833 (GRCm39) P151Q probably damaging Het
Zfr2 C T 10: 81,078,649 (GRCm39) P294S possibly damaging Het
Other mutations in Ss18l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0781:Ss18l1 UTSW 2 179,697,647 (GRCm39) missense possibly damaging 0.57
R0904:Ss18l1 UTSW 2 179,701,147 (GRCm39) missense probably damaging 1.00
R1938:Ss18l1 UTSW 2 179,705,138 (GRCm39) missense unknown
R2853:Ss18l1 UTSW 2 179,699,914 (GRCm39) missense probably damaging 1.00
R3825:Ss18l1 UTSW 2 179,705,103 (GRCm39) missense unknown
R4907:Ss18l1 UTSW 2 179,705,192 (GRCm39) critical splice donor site probably null
R5256:Ss18l1 UTSW 2 179,703,735 (GRCm39) missense unknown
R5508:Ss18l1 UTSW 2 179,699,446 (GRCm39) missense probably damaging 0.96
R6216:Ss18l1 UTSW 2 179,703,706 (GRCm39) missense unknown
R6218:Ss18l1 UTSW 2 179,696,905 (GRCm39) missense probably benign 0.00
R7529:Ss18l1 UTSW 2 179,699,950 (GRCm39) missense possibly damaging 0.80
R8498:Ss18l1 UTSW 2 179,699,968 (GRCm39) missense probably damaging 0.96
R8830:Ss18l1 UTSW 2 179,709,131 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGTGTTGGTGACATCCGCAG -3'
(R):5'- ACATGGTCAAACTCTGCACTG -3'

Sequencing Primer
(F):5'- ACATCCGCAGTTTACAGGTG -3'
(R):5'- TACACCAATGACGCGGCTG -3'
Posted On 2020-07-13