Incidental Mutation 'R6256:Sptlc2'
| ID |
506137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptlc2
|
| Ensembl Gene |
ENSMUSG00000021036 |
| Gene Name |
serine palmitoyltransferase, long chain base subunit 2 |
| Synonyms |
LCB2, Spt2 |
| MMRRC Submission |
044373-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87351832-87435129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87402305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 207
(E207G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021424]
|
| AlphaFold |
P97363 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021424
AA Change: E207G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021424
Gene: ENSMUSG00000021036
AA Change: E207G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
166 |
526 |
7.2e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167911
|
| Meta Mutation Damage Score |
0.5307 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (74/75) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
| Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
| Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
| Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
| Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
| Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
| Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
| Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
| Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
| Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
| Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
| Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
| Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
| Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
| Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
| 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 |
|
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 |
|
|
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'- CACCCATGTAATAAGTGGCACTTG -3'
(R):5'- ACACTTGGGTATTAGGCATGATTG -3'
Sequencing Primer
(F):5'- AAGACAGTGTCTGCTGGA -3'
(R):5'- CACAGGTACACAGGGAAT -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation