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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |