Incidental Mutation 'IGL01954:Sgpl1'
ID181377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Namesphingosine phosphate lyase 1
SynonymsD10Xrf456
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #IGL01954
Quality Score
Status
Chromosome10
Chromosomal Location61098642-61147703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61100893 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 561 (M561K)
Ref Sequence ENSEMBL: ENSMUSP00000112975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092498] [ENSMUST00000122259] [ENSMUST00000150258]
Predicted Effect probably benign
Transcript: ENSMUST00000092498
AA Change: M561K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090155
Gene: ENSMUSG00000020097
AA Change: M561K

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 159 454 7.8e-21 PFAM
Pfam:Aminotran_1_2 169 326 3.3e-10 PFAM
Pfam:Aminotran_5 187 472 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122259
AA Change: M561K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112975
Gene: ENSMUSG00000020097
AA Change: M561K

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 168 454 4.1e-23 PFAM
Pfam:Aminotran_1_2 169 326 3.3e-10 PFAM
Pfam:Aminotran_5 186 472 5.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143225
Predicted Effect probably benign
Transcript: ENSMUST00000150258
SMART Domains Protein: ENSMUSP00000117848
Gene: ENSMUSG00000020097

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 69 80 N/A INTRINSIC
Pfam:Pyridoxal_deC 167 454 2.6e-23 PFAM
Pfam:Aminotran_1_2 169 326 7.9e-10 PFAM
Pfam:Aminotran_5 187 471 1.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152316
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T A 1: 93,152,072 D432V probably damaging Het
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Cts7 T A 13: 61,352,823 R303S probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Ppp2r3c A G 12: 55,292,568 L170P probably damaging Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Serinc5 A G 13: 92,682,933 N125S probably damaging Het
Sostdc1 T C 12: 36,317,122 V99A probably damaging Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in Sgpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Sgpl1 APN 10 61100908 missense probably benign 0.00
IGL01376:Sgpl1 APN 10 61114070 missense probably damaging 1.00
IGL02668:Sgpl1 APN 10 61105450 missense probably damaging 0.97
IGL02797:Sgpl1 APN 10 61101728 missense probably benign 0.01
R0034:Sgpl1 UTSW 10 61102613 missense probably damaging 0.97
R0309:Sgpl1 UTSW 10 61113437 critical splice donor site probably null
R0647:Sgpl1 UTSW 10 61113488 missense probably damaging 1.00
R1496:Sgpl1 UTSW 10 61102589 missense probably damaging 1.00
R1603:Sgpl1 UTSW 10 61105451 missense possibly damaging 0.95
R1941:Sgpl1 UTSW 10 61103307 missense probably damaging 1.00
R4097:Sgpl1 UTSW 10 61103238 missense probably damaging 1.00
R4392:Sgpl1 UTSW 10 61104452 splice site probably benign
R4798:Sgpl1 UTSW 10 61123344 missense possibly damaging 0.83
R4849:Sgpl1 UTSW 10 61104518 missense probably benign 0.00
R4882:Sgpl1 UTSW 10 61112265 missense probably damaging 1.00
R4962:Sgpl1 UTSW 10 61114084 missense probably damaging 1.00
R6395:Sgpl1 UTSW 10 61112157 splice site probably null
Posted On2014-05-07