Incidental Mutation 'R4278:Sptlc2'
ID |
322775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sptlc2
|
Ensembl Gene |
ENSMUSG00000021036 |
Gene Name |
serine palmitoyltransferase, long chain base subunit 2 |
Synonyms |
LCB2, Spt2 |
MMRRC Submission |
068968-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87351832-87435129 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87382925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 393
(I393R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021424]
|
AlphaFold |
P97363 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021424
AA Change: I393R
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000021424 Gene: ENSMUSG00000021036 AA Change: I393R
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
166 |
526 |
7.2e-60 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181175
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
Hhatl |
G |
A |
9: 121,613,285 (GRCm39) |
A470V |
probably benign |
Het |
Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
Il22ra1 |
C |
T |
4: 135,478,024 (GRCm39) |
A365V |
possibly damaging |
Het |
Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r80 |
G |
T |
7: 11,927,454 (GRCm39) |
C188F |
probably benign |
Het |
Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
probably benign |
Het |
Zfp52 |
A |
G |
17: 21,782,132 (GRCm39) |
K660R |
probably benign |
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 |
|
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 |
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'- AAGCCTGACTCCTTATTTAGGG -3'
(R):5'- TGACCTAACCTTGGCTTTGC -3'
Sequencing Primer
(F):5'- CAGCACAATTGGCTGCTAAG -3'
(R):5'- GGCTTTGCCCTGTTTCTGGC -3'
|
Posted On |
2015-06-20 |