Incidental Mutation 'R1353:Sptlc2'
ID |
157109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptlc2
|
Ensembl Gene |
ENSMUSG00000021036 |
Gene Name |
serine palmitoyltransferase, long chain base subunit 2 |
Synonyms |
LCB2, Spt2 |
MMRRC Submission |
039418-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1353 (G1)
|
Quality Score |
116 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87351832-87435129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87388520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021424]
|
AlphaFold |
P97363 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021424
AA Change: S321P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021424 Gene: ENSMUSG00000021036 AA Change: S321P
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
166 |
526 |
7.2e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170110
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astn2 |
T |
C |
4: 66,184,572 (GRCm39) |
Q175R |
unknown |
Het |
Capn9 |
A |
C |
8: 125,332,305 (GRCm39) |
|
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Chd7 |
A |
G |
4: 8,839,556 (GRCm39) |
N1364S |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,178,033 (GRCm39) |
V3607E |
probably damaging |
Het |
Crb2 |
T |
C |
2: 37,677,293 (GRCm39) |
C262R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,856,055 (GRCm39) |
N204S |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,338,771 (GRCm39) |
T676A |
probably damaging |
Het |
Fancm |
G |
A |
12: 65,134,944 (GRCm39) |
V246M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,355,669 (GRCm39) |
S461P |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,293,220 (GRCm39) |
L394Q |
probably benign |
Het |
Hsdl2 |
G |
T |
4: 59,596,971 (GRCm39) |
|
probably null |
Het |
Klri2 |
C |
T |
6: 129,716,049 (GRCm39) |
G97S |
probably damaging |
Het |
Lypla2 |
T |
C |
4: 135,697,778 (GRCm39) |
I55V |
probably null |
Het |
Malrd1 |
A |
G |
2: 16,132,779 (GRCm39) |
D1900G |
unknown |
Het |
Map1b |
A |
G |
13: 99,563,834 (GRCm39) |
S2378P |
unknown |
Het |
Marchf3 |
A |
T |
18: 56,909,177 (GRCm39) |
|
probably null |
Het |
Myom2 |
G |
T |
8: 15,156,424 (GRCm39) |
W757L |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,584,418 (GRCm39) |
M120L |
possibly damaging |
Het |
Ncam2 |
T |
G |
16: 80,997,803 (GRCm39) |
M1R |
probably null |
Het |
Ncoa4 |
G |
T |
14: 31,892,815 (GRCm39) |
G33* |
probably null |
Het |
Or1j1 |
C |
A |
2: 36,702,926 (GRCm39) |
M59I |
possibly damaging |
Het |
Or1x2 |
G |
A |
11: 50,917,833 (GRCm39) |
M1I |
probably null |
Het |
Or2a20 |
T |
A |
6: 43,194,624 (GRCm39) |
M259K |
probably benign |
Het |
Or4p21 |
T |
C |
2: 88,276,895 (GRCm39) |
H129R |
probably benign |
Het |
Or6c38 |
C |
T |
10: 128,929,733 (GRCm39) |
V37I |
probably benign |
Het |
Or8b41 |
A |
C |
9: 38,055,024 (GRCm39) |
I198L |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,112,340 (GRCm39) |
N485S |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,703,119 (GRCm39) |
V939E |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,459,926 (GRCm39) |
E607G |
possibly damaging |
Het |
Rtel1 |
T |
A |
2: 180,991,024 (GRCm39) |
C285S |
probably benign |
Het |
Rtl1 |
A |
C |
12: 109,558,633 (GRCm39) |
C1069G |
probably benign |
Het |
Rtn4 |
C |
A |
11: 29,657,595 (GRCm39) |
A583E |
probably damaging |
Het |
Runx1 |
T |
A |
16: 92,485,939 (GRCm39) |
R32* |
probably null |
Het |
Sdcbp |
A |
G |
4: 6,381,057 (GRCm39) |
I67M |
probably damaging |
Het |
Slc22a12 |
G |
C |
19: 6,587,812 (GRCm39) |
L259V |
possibly damaging |
Het |
Tmem30c |
C |
T |
16: 57,098,028 (GRCm39) |
G131D |
probably damaging |
Het |
Tnfaip2 |
A |
T |
12: 111,411,403 (GRCm39) |
Q9L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,910 (GRCm39) |
Y24661C |
probably damaging |
Het |
Vmn2r77 |
T |
G |
7: 86,451,394 (GRCm39) |
F427V |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,240 (GRCm39) |
H228Q |
probably damaging |
Het |
Zfp84 |
T |
A |
7: 29,475,600 (GRCm39) |
N97K |
probably benign |
Het |
Zfp976 |
T |
C |
7: 42,265,442 (GRCm39) |
D49G |
probably damaging |
Het |
Zgrf1 |
C |
T |
3: 127,405,452 (GRCm39) |
T1550I |
probably damaging |
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 |
|
IGL02734:Sptlc2
|
APN |
12 |
87,402,444 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATCCTCCTGAAGCACCGAAGC -3'
(R):5'- TGGGCAGGAACTCAAGGCATTC -3'
Sequencing Primer
(F):5'- AAGCACCGAAGCTCTTTGTG -3'
(R):5'- ggggatgtgggtaggtgtag -3'
|
Posted On |
2014-02-11 |