Incidental Mutation 'IGL00592:Sgms2'
ID14005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgms2
Ensembl Gene ENSMUSG00000050931
Gene Namesphingomyelin synthase 2
Synonyms4933405A16Rik, 5133401H06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL00592
Quality Score
Status
Chromosome3
Chromosomal Location131318985-131491411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131341833 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 131 (S131P)
Ref Sequence ENSEMBL: ENSMUSP00000087713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090246] [ENSMUST00000126569] [ENSMUST00000197057]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090246
AA Change: S131P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: S131P

DomainStartEndE-ValueType
low complexity region 32 41 N/A INTRINSIC
transmembrane domain 79 101 N/A INTRINSIC
transmembrane domain 127 149 N/A INTRINSIC
transmembrane domain 154 176 N/A INTRINSIC
Pfam:PAP2_C 220 293 5.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126569
Predicted Effect probably benign
Transcript: ENSMUST00000197057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200431
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Eva1b T C 4: 126,149,650 M161T probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Sgms2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01839:Sgms2 APN 3 131342102 missense possibly damaging 0.92
IGL02232:Sgms2 APN 3 131323184 missense probably benign
R0602:Sgms2 UTSW 3 131325107 critical splice acceptor site probably null
R2183:Sgms2 UTSW 3 131336285 splice site probably null
R4393:Sgms2 UTSW 3 131341817 unclassified probably null
R4457:Sgms2 UTSW 3 131325016 missense probably damaging 1.00
R5050:Sgms2 UTSW 3 131330356 missense probably benign
R5052:Sgms2 UTSW 3 131330356 missense probably benign
R5088:Sgms2 UTSW 3 131330356 missense probably benign
R5224:Sgms2 UTSW 3 131342117 missense probably damaging 0.98
R5426:Sgms2 UTSW 3 131341797 missense probably benign 0.01
R5682:Sgms2 UTSW 3 131324962 missense probably damaging 0.99
R5735:Sgms2 UTSW 3 131336217 missense probably damaging 1.00
R6892:Sgms2 UTSW 3 131342154 missense probably benign
R7149:Sgms2 UTSW 3 131336259 missense possibly damaging 0.78
R7762:Sgms2 UTSW 3 131323249 missense probably benign 0.13
Posted On2012-12-06