Incidental Mutation 'IGL03252:Sptlc2'
ID414552
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 #IGL03252
Quality Score
Status
Chromosome12
Chromosomal Location87305058-87388355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87355657 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 165 (I165T)
Ref Sequence ENSEMBL: ENSMUSP00000021424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021424]
Predicted Effect probably benign
Transcript: ENSMUST00000021424
AA Change: I165T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021424
Gene: ENSMUSG00000021036
AA Change: I165T

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt2 A G 11: 95,873,931 S237P probably damaging Het
Btla A G 16: 45,239,146 H71R possibly damaging Het
Calml3 T A 13: 3,803,759 K149* probably null Het
Cyp2c29 T C 19: 39,287,175 W20R probably damaging Het
Dnah8 G A 17: 30,673,920 probably null Het
Elf3 T C 1: 135,254,953 T345A probably damaging Het
Erc2 T C 14: 28,475,649 probably benign Het
Gm10375 C T 14: 43,604,832 C147Y probably damaging Het
Gsdma2 A G 11: 98,649,090 R13G probably damaging Het
Hist1h3a G A 13: 23,761,960 probably null Het
Ighg3 G T 12: 113,360,564 P101H unknown Het
L3mbtl3 A G 10: 26,331,812 probably benign Het
Micall2 T C 5: 139,716,726 N254S probably benign Het
Myh4 A T 11: 67,252,216 D990V probably damaging Het
Ncapd3 T A 9: 27,051,449 F394I probably damaging Het
Nek1 C T 8: 61,072,330 Q601* probably null Het
Olfr1281 T A 2: 111,328,780 Y120* probably null Het
Olfr668 C T 7: 104,925,387 V126I probably benign Het
Plcb1 C T 2: 135,370,428 P980S probably benign Het
Puf60 T C 15: 76,071,850 D224G probably damaging Het
Pus7l T A 15: 94,525,810 H586L probably benign Het
Rims2 T C 15: 39,452,352 S585P probably benign Het
Rxfp1 T A 3: 79,667,683 D207V probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sult2a3 A G 7: 14,067,634 V260A probably damaging Het
Tas2r125 A G 6: 132,910,590 probably null Het
Tbx18 T A 9: 87,705,580 I495F probably damaging Het
Top2b A T 14: 16,393,163 N274I possibly damaging Het
Vmn2r53 T G 7: 12,606,391 T52P probably damaging Het
Other mutations in Sptlc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Sptlc2 APN 12 87369068 missense probably damaging 0.99
IGL02458:Sptlc2 APN 12 87309893 utr 3 prime probably benign
IGL02734:Sptlc2 APN 12 87355670 missense probably damaging 0.97
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 On2016-08-02