Incidental Mutation 'IGL01996:Sptlc3'
ID 182930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptlc3
Ensembl Gene ENSMUSG00000039092
Gene Name serine palmitoyltransferase, long chain base subunit 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01996
Quality Score
Status
Chromosome 2
Chromosomal Location 139493913-139637674 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 139581504 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047370] [ENSMUST00000110083]
AlphaFold Q8BG54
Predicted Effect probably benign
Transcript: ENSMUST00000047370
SMART Domains Protein: ENSMUSP00000048313
Gene: ENSMUSG00000039092

DomainStartEndE-ValueType
transmembrane domain 60 79 N/A INTRINSIC
Pfam:Aminotran_1_2 160 520 4.8e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110083
SMART Domains Protein: ENSMUSP00000105710
Gene: ENSMUSG00000039092

DomainStartEndE-ValueType
transmembrane domain 60 79 N/A INTRINSIC
Pfam:Aminotran_1_2 160 520 4.8e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134801
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,700 (GRCm38) V29A possibly damaging Het
Adarb1 A G 10: 77,322,217 (GRCm38) L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 (GRCm38) M733R probably damaging Het
Aox1 C T 1: 58,082,066 (GRCm38) R899C probably benign Het
Arhgap44 T A 11: 65,005,496 (GRCm38) probably benign Het
Asns T C 6: 7,682,378 (GRCm38) D189G possibly damaging Het
Brap A G 5: 121,678,847 (GRCm38) probably benign Het
Ccdc138 T A 10: 58,562,030 (GRCm38) L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 (GRCm38) probably null Het
Ccdc178 A G 18: 22,097,756 (GRCm38) Y353H probably damaging Het
Clca3b A T 3: 144,849,163 (GRCm38) S41R probably benign Het
Dpep3 T C 8: 105,974,726 (GRCm38) N397S probably damaging Het
Eif1 T C 11: 100,321,000 (GRCm38) I83T probably benign Het
Enah A T 1: 181,956,505 (GRCm38) W80R unknown Het
F2rl1 C T 13: 95,513,924 (GRCm38) C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 (GRCm38) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm38) T68A probably benign Het
Greb1 T C 12: 16,690,845 (GRCm38) K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 (GRCm38) S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 (GRCm38) G15S unknown Het
Itgb7 C T 15: 102,217,977 (GRCm38) G508D probably damaging Het
Kcnq3 A G 15: 66,023,696 (GRCm38) I333T probably damaging Het
Knl1 A G 2: 119,104,061 (GRCm38) D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 (GRCm38) probably null Het
Lrpprc A G 17: 84,773,270 (GRCm38) Y176H probably benign Het
Mier1 T C 4: 103,127,276 (GRCm38) S22P possibly damaging Het
Mme A T 3: 63,343,549 (GRCm38) N337I probably benign Het
Mthfd1 A G 12: 76,303,905 (GRCm38) Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 (GRCm38) M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 (GRCm38) F101Y probably benign Het
Nup133 T A 8: 123,946,595 (GRCm38) I66L probably benign Het
Olfr1406 T C 1: 173,183,727 (GRCm38) T236A probably benign Het
Olfr378 T A 11: 73,425,968 (GRCm38) N5I probably damaging Het
Olfr736 T G 14: 50,393,659 (GRCm38) M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 (GRCm38) probably null Het
Paqr8 T C 1: 20,935,404 (GRCm38) F261L probably damaging Het
Plxna2 A G 1: 194,799,776 (GRCm38) E1452G probably damaging Het
Polh T C 17: 46,173,001 (GRCm38) D446G probably benign Het
Psg19 A T 7: 18,790,061 (GRCm38) M353K possibly damaging Het
Sap25 T C 5: 137,641,818 (GRCm38) probably null Het
Sap30l C T 11: 57,809,951 (GRCm38) R144* probably null Het
Sema6b C T 17: 56,131,157 (GRCm38) V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 (GRCm38) Y228H probably benign Het
Shank2 A G 7: 144,411,493 (GRCm38) D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 (GRCm38) L52Q possibly damaging Het
Tgfb1i1 T C 7: 128,249,292 (GRCm38) probably benign Het
Tifa T C 3: 127,796,580 (GRCm38) probably benign Het
Tomm40l C T 1: 171,219,655 (GRCm38) V265M possibly damaging Het
Trim45 C A 3: 100,928,109 (GRCm38) Y469* probably null Het
Ttc21a G T 9: 119,958,116 (GRCm38) A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 (GRCm38) D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 (GRCm38) I189N possibly damaging Het
Other mutations in Sptlc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Sptlc3 APN 2 139,546,421 (GRCm38) missense possibly damaging 0.55
IGL01537:Sptlc3 APN 2 139,589,695 (GRCm38) missense possibly damaging 0.95
IGL02512:Sptlc3 APN 2 139,547,203 (GRCm38) missense probably damaging 1.00
IGL03278:Sptlc3 APN 2 139,589,659 (GRCm38) missense probably damaging 1.00
IGL03286:Sptlc3 APN 2 139,589,659 (GRCm38) missense probably damaging 1.00
R0266:Sptlc3 UTSW 2 139,596,037 (GRCm38) missense possibly damaging 0.93
R0362:Sptlc3 UTSW 2 139,546,555 (GRCm38) splice site probably benign
R1464:Sptlc3 UTSW 2 139,547,234 (GRCm38) missense probably benign 0.00
R1464:Sptlc3 UTSW 2 139,547,234 (GRCm38) missense probably benign 0.00
R1494:Sptlc3 UTSW 2 139,589,560 (GRCm38) missense possibly damaging 0.58
R1847:Sptlc3 UTSW 2 139,625,923 (GRCm38) missense probably benign 0.08
R1919:Sptlc3 UTSW 2 139,566,675 (GRCm38) missense possibly damaging 0.66
R2093:Sptlc3 UTSW 2 139,625,874 (GRCm38) missense possibly damaging 0.89
R2396:Sptlc3 UTSW 2 139,566,586 (GRCm38) missense probably benign 0.44
R2972:Sptlc3 UTSW 2 139,589,661 (GRCm38) missense probably damaging 1.00
R2973:Sptlc3 UTSW 2 139,589,661 (GRCm38) missense probably damaging 1.00
R2974:Sptlc3 UTSW 2 139,589,661 (GRCm38) missense probably damaging 1.00
R4601:Sptlc3 UTSW 2 139,636,680 (GRCm38) missense probably benign 0.01
R4602:Sptlc3 UTSW 2 139,636,680 (GRCm38) missense probably benign 0.01
R4610:Sptlc3 UTSW 2 139,636,680 (GRCm38) missense probably benign 0.01
R4745:Sptlc3 UTSW 2 139,547,167 (GRCm38) missense probably damaging 1.00
R4779:Sptlc3 UTSW 2 139,589,589 (GRCm38) missense probably benign 0.04
R4992:Sptlc3 UTSW 2 139,596,003 (GRCm38) missense probably benign 0.04
R5162:Sptlc3 UTSW 2 139,631,343 (GRCm38) missense probably benign 0.11
R5401:Sptlc3 UTSW 2 139,636,723 (GRCm38) missense possibly damaging 0.75
R5406:Sptlc3 UTSW 2 139,546,478 (GRCm38) missense probably benign 0.26
R5642:Sptlc3 UTSW 2 139,546,408 (GRCm38) missense probably damaging 0.96
R5840:Sptlc3 UTSW 2 139,547,206 (GRCm38) missense probably damaging 1.00
R6057:Sptlc3 UTSW 2 139,581,613 (GRCm38) missense probably damaging 0.99
R6376:Sptlc3 UTSW 2 139,636,772 (GRCm38) missense probably benign 0.21
R6852:Sptlc3 UTSW 2 139,566,586 (GRCm38) missense probably benign 0.44
R7026:Sptlc3 UTSW 2 139,537,688 (GRCm38) missense probably benign
R7412:Sptlc3 UTSW 2 139,589,617 (GRCm38) missense possibly damaging 0.75
R7516:Sptlc3 UTSW 2 139,589,518 (GRCm38) missense probably benign 0.11
R7733:Sptlc3 UTSW 2 139,631,368 (GRCm38) missense possibly damaging 0.77
R7826:Sptlc3 UTSW 2 139,547,195 (GRCm38) missense probably benign 0.44
R7949:Sptlc3 UTSW 2 139,625,875 (GRCm38) missense possibly damaging 0.81
R9224:Sptlc3 UTSW 2 139,494,234 (GRCm38) missense probably benign 0.17
R9237:Sptlc3 UTSW 2 139,566,685 (GRCm38) missense probably benign 0.40
R9319:Sptlc3 UTSW 2 139,636,810 (GRCm38) missense possibly damaging 0.65
R9330:Sptlc3 UTSW 2 139,546,503 (GRCm38) missense probably benign
Posted On 2014-05-07