Incidental Mutation 'IGL00592:Sgms2'
| ID |
14005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgms2
|
| Ensembl Gene |
ENSMUSG00000050931 |
| Gene Name |
sphingomyelin synthase 2 |
| Synonyms |
5133401H06Rik, 4933405A16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
131112634-131197172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131135482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 131
(S131P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090246]
[ENSMUST00000126569]
[ENSMUST00000197057]
|
| AlphaFold |
Q9D4B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090246
AA Change: S131P
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087713
Gene: ENSMUSG00000050931
AA Change: S131P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
|
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
transmembrane domain
|
154 |
176 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
220 |
293 |
5.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200431
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Sgms2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01839:Sgms2
|
APN |
3 |
131,135,751 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02232:Sgms2
|
APN |
3 |
131,116,833 (GRCm39) |
missense |
probably benign |
|
|
R0602:Sgms2
|
UTSW |
3 |
131,118,756 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2183:Sgms2
|
UTSW |
3 |
131,129,934 (GRCm39) |
splice site |
probably null |
|
|
R4393:Sgms2
|
UTSW |
3 |
131,135,466 (GRCm39) |
splice site |
probably null |
|
|
R4457:Sgms2
|
UTSW |
3 |
131,118,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Sgms2
|
UTSW |
3 |
131,124,005 (GRCm39) |
missense |
probably benign |
|
|
R5052:Sgms2
|
UTSW |
3 |
131,124,005 (GRCm39) |
missense |
probably benign |
|
|
R5088:Sgms2
|
UTSW |
3 |
131,124,005 (GRCm39) |
missense |
probably benign |
|
|
R5224:Sgms2
|
UTSW |
3 |
131,135,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5426:Sgms2
|
UTSW |
3 |
131,135,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5682:Sgms2
|
UTSW |
3 |
131,118,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5735:Sgms2
|
UTSW |
3 |
131,129,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6892:Sgms2
|
UTSW |
3 |
131,135,803 (GRCm39) |
missense |
probably benign |
|
|
R7149:Sgms2
|
UTSW |
3 |
131,129,908 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7762:Sgms2
|
UTSW |
3 |
131,116,898 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9378:Sgms2
|
UTSW |
3 |
131,136,011 (GRCm39) |
start gained |
probably benign |
|
|
R9440:Sgms2
|
UTSW |
3 |
131,118,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation