Incidental Mutation 'IGL01954:Sgpl1'
ID 181377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgpl1
Ensembl Gene ENSMUSG00000020097
Gene Name sphingosine phosphate lyase 1
Synonyms D10Xrf456
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01954
Quality Score
Status
Chromosome 10
Chromosomal Location 60934421-60983463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60936672 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R0X7
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
Aadacl4fm4 A T 4: 144,396,741 (GRCm39) D330E probably damaging Het
Acsm3 T C 7: 119,374,306 (GRCm39) probably benign Het
Ankrd26 T A 6: 118,535,966 (GRCm39) Y156F possibly damaging Het
Bcr G A 10: 75,011,173 (GRCm39) probably null Het
Cpn2 C T 16: 30,079,138 (GRCm39) A188T probably benign Het
Ctdsp1 T C 1: 74,433,242 (GRCm39) probably benign Het
Cts7 T A 13: 61,500,637 (GRCm39) R303S probably benign Het
Dock7 T C 4: 98,971,388 (GRCm39) D59G probably damaging Het
Garre1 A T 7: 33,944,460 (GRCm39) W91R probably damaging Het
Gpr149 T C 3: 62,438,348 (GRCm39) N603S probably benign Het
Gucy2g A G 19: 55,187,123 (GRCm39) I1099T probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Ighv1-80 A T 12: 115,876,253 (GRCm39) V21D probably benign Het
Klhl18 T C 9: 110,257,934 (GRCm39) Y432C probably damaging Het
Lama4 A G 10: 38,963,295 (GRCm39) D1289G probably benign Het
Mab21l4 T A 1: 93,079,794 (GRCm39) D432V probably damaging Het
Mcm7 T C 5: 138,165,507 (GRCm39) T466A probably damaging Het
Megf8 A G 7: 25,048,439 (GRCm39) E1704G possibly damaging Het
Mettl25 C T 10: 105,659,068 (GRCm39) C405Y probably damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Ndc1 T A 4: 107,253,001 (GRCm39) I590N probably damaging Het
Npnt G T 3: 132,615,724 (GRCm39) N137K probably damaging Het
Numa1 C T 7: 101,645,300 (GRCm39) R309* probably null Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or11i1 A G 3: 106,729,311 (GRCm39) I188T possibly damaging Het
Or5v1 C A 17: 37,809,540 (GRCm39) probably benign Het
Pcdhb9 G T 18: 37,534,794 (GRCm39) V263F probably damaging Het
Pld4 T C 12: 112,734,355 (GRCm39) probably null Het
Ppp2r3c A G 12: 55,339,353 (GRCm39) L170P probably damaging Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Rasal2 A G 1: 157,005,269 (GRCm39) S227P possibly damaging Het
Rasal2 A T 1: 157,003,686 (GRCm39) D324E probably damaging Het
Rcbtb1 A G 14: 59,467,416 (GRCm39) Y418C probably damaging Het
Rhag T C 17: 41,139,341 (GRCm39) F92S possibly damaging Het
Scel T C 14: 103,840,678 (GRCm39) probably benign Het
Serinc5 A G 13: 92,819,441 (GRCm39) N125S probably damaging Het
Sostdc1 T C 12: 36,367,121 (GRCm39) V99A probably damaging Het
Them6 A G 15: 74,593,538 (GRCm39) Y132C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 A T 6: 124,169,207 (GRCm39) F641Y probably damaging Het
Vps13c A G 9: 67,876,580 (GRCm39) Y3384C probably damaging Het
Zbtb32 G T 7: 30,289,353 (GRCm39) probably null Het
Other mutations in Sgpl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Sgpl1 APN 10 60,936,687 (GRCm39) missense probably benign 0.00
IGL01376:Sgpl1 APN 10 60,949,849 (GRCm39) missense probably damaging 1.00
IGL02668:Sgpl1 APN 10 60,941,229 (GRCm39) missense probably damaging 0.97
IGL02797:Sgpl1 APN 10 60,937,507 (GRCm39) missense probably benign 0.01
R0034:Sgpl1 UTSW 10 60,938,392 (GRCm39) missense probably damaging 0.97
R0309:Sgpl1 UTSW 10 60,949,216 (GRCm39) critical splice donor site probably null
R0647:Sgpl1 UTSW 10 60,949,267 (GRCm39) missense probably damaging 1.00
R1496:Sgpl1 UTSW 10 60,938,368 (GRCm39) missense probably damaging 1.00
R1603:Sgpl1 UTSW 10 60,941,230 (GRCm39) missense possibly damaging 0.95
R1941:Sgpl1 UTSW 10 60,939,086 (GRCm39) missense probably damaging 1.00
R4097:Sgpl1 UTSW 10 60,939,017 (GRCm39) missense probably damaging 1.00
R4392:Sgpl1 UTSW 10 60,940,231 (GRCm39) splice site probably benign
R4798:Sgpl1 UTSW 10 60,959,123 (GRCm39) missense possibly damaging 0.83
R4849:Sgpl1 UTSW 10 60,940,297 (GRCm39) missense probably benign 0.00
R4882:Sgpl1 UTSW 10 60,948,044 (GRCm39) missense probably damaging 1.00
R4962:Sgpl1 UTSW 10 60,949,863 (GRCm39) missense probably damaging 1.00
R6395:Sgpl1 UTSW 10 60,947,936 (GRCm39) splice site probably null
R7767:Sgpl1 UTSW 10 60,953,502 (GRCm39) missense possibly damaging 0.50
R7947:Sgpl1 UTSW 10 60,942,121 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07