Incidental Mutation 'IGL00757:Sptlc2'
ID14232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptlc2
Ensembl Gene ENSMUSG00000021036
Gene Nameserine palmitoyltransferase, long chain base subunit 2
SynonymsLCB2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00757
Quality Score
Status
Chromosome12
Chromosomal Location87305058-87388355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87369068 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 62 (E62K)
Ref Sequence ENSEMBL: ENSMUSP00000021424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021424]
Predicted Effect probably damaging
Transcript: ENSMUST00000021424
AA Change: E62K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021424
Gene: ENSMUSG00000021036
AA Change: E62K

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 166 526 7.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221879
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a long chain base subunit of serine palmitoyltransferase. The enzyme, serine palmitoyltransferase, consists of two different subunits, and is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. A mutant allele of this gene in mice is used as a model for the human disease 'Susceptibilty to Psoriasis 1'. Mutations in the human gene are associated with hereditary sensory neuropathy type I. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit abnormal liver and circulating shingolipid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T G 7: 28,154,445 C1611W probably damaging Het
Acsbg1 A C 9: 54,622,719 I231R possibly damaging Het
Ahctf1 G A 1: 179,769,131 P94S probably damaging Het
Cldn34b3 T C X: 76,267,372 I182T possibly damaging Het
Cps1 T A 1: 67,152,380 probably benign Het
Cwf19l2 G T 9: 3,460,054 A781S probably damaging Het
Cyp4v3 T C 8: 45,320,615 I172M probably damaging Het
Gmnc T G 16: 26,963,939 D22A probably damaging Het
Gpr89 T A 3: 96,871,534 T408S probably benign Het
Grk2 A G 19: 4,289,311 probably null Het
Hrasls5 G T 19: 7,614,559 E113D possibly damaging Het
Kctd3 A G 1: 188,972,196 S793P probably damaging Het
Lhx1 A G 11: 84,519,652 F373S probably damaging Het
Mgl2 A T 11: 70,135,150 I71F probably damaging Het
Nbeal1 T A 1: 60,195,143 I91N possibly damaging Het
Otog T A 7: 46,290,128 D2110E probably damaging Het
Pde9a A G 17: 31,443,172 E90G probably benign Het
Prdm10 T C 9: 31,318,546 V86A possibly damaging Het
R3hdm1 T G 1: 128,236,439 I1030R probably damaging Het
Ryr2 T A 13: 11,618,604 probably null Het
Serpina1f A G 12: 103,693,462 I187T probably damaging Het
Slc22a16 C T 10: 40,581,327 T188M probably damaging Het
Spg11 T C 2: 122,070,959 H1500R probably benign Het
Tgfbr1 T A 4: 47,405,581 S326T probably damaging Het
Tgif1 A G 17: 70,846,240 Y39H probably damaging Het
Other mutations in Sptlc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Sptlc2 APN 12 87309893 utr 3 prime probably benign
IGL02734:Sptlc2 APN 12 87355670 missense probably damaging 0.97
IGL03252:Sptlc2 APN 12 87355657 missense probably benign 0.00
lopsided UTSW 12 87341565 missense probably benign 0.27
shinola UTSW 12 87350295 missense possibly damaging 0.64
R0087:Sptlc2 UTSW 12 87369118 missense probably benign
R0116:Sptlc2 UTSW 12 87356680 missense probably benign 0.00
R0492:Sptlc2 UTSW 12 87346806 splice site probably null
R1353:Sptlc2 UTSW 12 87341746 missense probably damaging 1.00
R1470:Sptlc2 UTSW 12 87355640 missense probably benign 0.00
R1470:Sptlc2 UTSW 12 87355640 missense probably benign 0.00
R3417:Sptlc2 UTSW 12 87346808 splice site probably benign
R3735:Sptlc2 UTSW 12 87341565 missense probably benign 0.27
R3736:Sptlc2 UTSW 12 87341565 missense probably benign 0.27
R4278:Sptlc2 UTSW 12 87336151 missense probably benign 0.04
R5252:Sptlc2 UTSW 12 87336055 missense possibly damaging 0.49
R5593:Sptlc2 UTSW 12 87369083 missense probably benign 0.11
R5656:Sptlc2 UTSW 12 87346761 missense probably damaging 1.00
R5801:Sptlc2 UTSW 12 87341771 splice site probably null
R6256:Sptlc2 UTSW 12 87355531 missense probably damaging 1.00
R6280:Sptlc2 UTSW 12 87388131 missense probably benign
R6520:Sptlc2 UTSW 12 87355662 missense probably benign
R6808:Sptlc2 UTSW 12 87350295 missense possibly damaging 0.64
R7133:Sptlc2 UTSW 12 87350377 missense probably benign 0.00
R7274:Sptlc2 UTSW 12 87341606 missense probably benign 0.24
R7366:Sptlc2 UTSW 12 87314049 critical splice donor site probably null
R7602:Sptlc2 UTSW 12 87341689 missense probably damaging 0.99
Z1177:Sptlc2 UTSW 12 87369044 missense probably benign 0.01
Posted On2012-12-06