Incidental Mutation 'IGL01354:Sptlc1'
ID75476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptlc1
Ensembl Gene ENSMUSG00000021468
Gene Nameserine palmitoyltransferase, long chain base subunit 1
SynonymsLcb1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01354
Quality Score
Status
Chromosome13
Chromosomal Location53332748-53377397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53333951 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 452 (Q452L)
Ref Sequence ENSEMBL: ENSMUSP00000021920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021920]
Predicted Effect probably benign
Transcript: ENSMUST00000021920
AA Change: Q452L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021920
Gene: ENSMUSG00000021468
AA Change: Q452L

DomainStartEndE-ValueType
transmembrane domain 20 40 N/A INTRINSIC
Pfam:Aminotran_1_2 98 464 9.5e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a knock-out allele exhibit abnormal sphingolipid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Cyp2d34 G A 15: 82,617,622 T229M probably benign Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Malt1 A G 18: 65,475,191 Y654C probably damaging Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr1380 T C 11: 49,564,197 I92T probably damaging Het
Olfr878 G A 9: 37,919,544 V301I possibly damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zrsr1 T A 11: 22,974,190 H321Q probably damaging Het
Other mutations in Sptlc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Sptlc1 APN 13 53367378 missense probably damaging 0.98
IGL01773:Sptlc1 APN 13 53377298 missense probably damaging 0.96
IGL01876:Sptlc1 APN 13 53374012 missense probably benign 0.02
R0390:Sptlc1 UTSW 13 53337612 missense probably benign 0.06
R1371:Sptlc1 UTSW 13 53351624 missense probably benign
R1961:Sptlc1 UTSW 13 53358880 missense probably benign
R2179:Sptlc1 UTSW 13 53351639 missense probably damaging 1.00
R2513:Sptlc1 UTSW 13 53337640 missense possibly damaging 0.61
R4357:Sptlc1 UTSW 13 53374032 missense probably damaging 1.00
R4989:Sptlc1 UTSW 13 53351656 missense probably damaging 0.97
R5055:Sptlc1 UTSW 13 53342182 missense probably benign 0.02
R6415:Sptlc1 UTSW 13 53351692 critical splice acceptor site probably null
R6752:Sptlc1 UTSW 13 53335358 missense possibly damaging 0.67
R7283:Sptlc1 UTSW 13 53344878 missense probably benign 0.03
R7548:Sptlc1 UTSW 13 53367932 missense possibly damaging 0.84
R7731:Sptlc1 UTSW 13 53333957 missense probably benign 0.00
Posted On2013-10-07