Incidental Mutation 'IGL02734:Sptlc2'
ID 305576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptlc2
Ensembl Gene ENSMUSG00000021036
Gene Name serine palmitoyltransferase, long chain base subunit 2
Synonyms LCB2, Spt2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02734
Quality Score
Status
Chromosome 12
Chromosomal Location 87351832-87435129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87402444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 161 (T161A)
Ref Sequence ENSEMBL: ENSMUSP00000021424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021424]
AlphaFold P97363
Predicted Effect probably damaging
Transcript: ENSMUST00000021424
AA Change: T161A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021424
Gene: ENSMUSG00000021036
AA Change: T161A

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 166 526 7.2e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167911
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,506,349 (GRCm39) D114V probably damaging Het
Adam26a A G 8: 44,022,812 (GRCm39) V226A probably benign Het
Anapc4 T A 5: 53,018,633 (GRCm39) V525E probably benign Het
Apip C T 2: 102,919,889 (GRCm39) probably benign Het
Bak1 A G 17: 27,239,927 (GRCm39) V203A possibly damaging Het
Bche T A 3: 73,609,409 (GRCm39) T6S probably benign Het
Ceacam5 T A 7: 17,484,737 (GRCm39) V493D probably damaging Het
Cstf3 T A 2: 104,439,539 (GRCm39) probably benign Het
Fam227a A T 15: 79,502,042 (GRCm39) probably benign Het
Fbln1 G T 15: 85,111,182 (GRCm39) C112F probably damaging Het
Gm12695 G A 4: 96,612,267 (GRCm39) R499* probably null Het
Igdcc4 T G 9: 65,038,738 (GRCm39) S887A possibly damaging Het
Itgb4 G T 11: 115,896,792 (GRCm39) R1470L probably benign Het
Kif1a T C 1: 92,990,280 (GRCm39) E480G probably damaging Het
Mgam T A 6: 40,639,628 (GRCm39) F497L probably damaging Het
Or4a74 T C 2: 89,440,303 (GRCm39) I48V probably benign Het
Or5ar1 T G 2: 85,671,883 (GRCm39) D84A possibly damaging Het
Or5t5 T C 2: 86,616,712 (GRCm39) Y213H probably benign Het
Prl7a2 A T 13: 27,843,190 (GRCm39) D204E probably benign Het
Shd A G 17: 56,278,632 (GRCm39) Y65C probably damaging Het
Slc25a39 A G 11: 102,295,349 (GRCm39) V207A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tacc2 G T 7: 130,227,829 (GRCm39) V1505L probably damaging Het
Taf6 T C 5: 138,182,118 (GRCm39) K76E possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Zc3h4 T C 7: 16,157,849 (GRCm39) I353T unknown Het
Other mutations in Sptlc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Sptlc2 APN 12 87,415,842 (GRCm39) missense probably damaging 0.99
IGL02458:Sptlc2 APN 12 87,356,667 (GRCm39) utr 3 prime probably benign
IGL03252:Sptlc2 APN 12 87,402,431 (GRCm39) missense probably benign 0.00
lopsided UTSW 12 87,388,339 (GRCm39) missense probably benign 0.27
shinola UTSW 12 87,397,069 (GRCm39) missense possibly damaging 0.64
R0087:Sptlc2 UTSW 12 87,415,892 (GRCm39) missense probably benign
R0116:Sptlc2 UTSW 12 87,403,454 (GRCm39) missense probably benign 0.00
R0492:Sptlc2 UTSW 12 87,393,580 (GRCm39) splice site probably null
R1353:Sptlc2 UTSW 12 87,388,520 (GRCm39) missense probably damaging 1.00
R1470:Sptlc2 UTSW 12 87,402,414 (GRCm39) missense probably benign 0.00
R1470:Sptlc2 UTSW 12 87,402,414 (GRCm39) missense probably benign 0.00
R3417:Sptlc2 UTSW 12 87,393,582 (GRCm39) splice site probably benign
R3735:Sptlc2 UTSW 12 87,388,339 (GRCm39) missense probably benign 0.27
R3736:Sptlc2 UTSW 12 87,388,339 (GRCm39) missense probably benign 0.27
R4278:Sptlc2 UTSW 12 87,382,925 (GRCm39) missense probably benign 0.04
R5252:Sptlc2 UTSW 12 87,382,829 (GRCm39) missense possibly damaging 0.49
R5593:Sptlc2 UTSW 12 87,415,857 (GRCm39) missense probably benign 0.11
R5656:Sptlc2 UTSW 12 87,393,535 (GRCm39) missense probably damaging 1.00
R5801:Sptlc2 UTSW 12 87,388,545 (GRCm39) splice site probably null
R6256:Sptlc2 UTSW 12 87,402,305 (GRCm39) missense probably damaging 1.00
R6280:Sptlc2 UTSW 12 87,434,905 (GRCm39) missense probably benign
R6520:Sptlc2 UTSW 12 87,402,436 (GRCm39) missense probably benign
R6808:Sptlc2 UTSW 12 87,397,069 (GRCm39) missense possibly damaging 0.64
R7133:Sptlc2 UTSW 12 87,397,151 (GRCm39) missense probably benign 0.00
R7274:Sptlc2 UTSW 12 87,388,380 (GRCm39) missense probably benign 0.24
R7366:Sptlc2 UTSW 12 87,360,823 (GRCm39) critical splice donor site probably null
R7602:Sptlc2 UTSW 12 87,388,463 (GRCm39) missense probably damaging 0.99
R9085:Sptlc2 UTSW 12 87,382,839 (GRCm39) missense probably benign 0.00
R9710:Sptlc2 UTSW 12 87,359,533 (GRCm39) missense probably benign 0.44
Z1177:Sptlc2 UTSW 12 87,415,818 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16