Incidental Mutation 'IGL01585:Sgms1'
| ID |
93336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgms1
|
| Ensembl Gene |
ENSMUSG00000040451 |
| Gene Name |
sphingomyelin synthase 1 |
| Synonyms |
SMS1beta, SMS1gamma, SMS1alpha2, 9530058O11Rik, SMS1, Tmem23, SMS1alpha1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
IGL01585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
32100127-32367114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32120245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 220
(R220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099514]
[ENSMUST00000134415]
[ENSMUST00000142618]
[ENSMUST00000151289]
[ENSMUST00000152340]
|
| AlphaFold |
Q8VCQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099514
AA Change: R220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097114
Gene: ENSMUSG00000040451
AA Change: R220S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.3e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Pfam:PAP2
|
216 |
362 |
4.5e-10 |
PFAM |
|
Pfam:PAP2_C
|
282 |
355 |
4.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134415
|
| SMART Domains |
Protein: ENSMUSP00000115785
Gene: ENSMUSG00000040451
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
4.3e-7 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142618
AA Change: R220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117336
Gene: ENSMUSG00000040451
AA Change: R220S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.3e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
Pfam:PAP2
|
216 |
362 |
4.5e-10 |
PFAM |
|
Pfam:PAP2_C
|
282 |
355 |
4.9e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151289
AA Change: R220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123395
Gene: ENSMUSG00000040451
AA Change: R220S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
1.5e-6 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
282 |
355 |
1.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152340
|
| SMART Domains |
Protein: ENSMUSP00000119869
Gene: ENSMUSG00000040451
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_1
|
11 |
74 |
4.7e-7 |
PFAM |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, impaired insulin tolerance, increased insulin sensitivity, decreased insulin secretion, and abnormal pancreatic islet cell mitochondria morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,359,045 (GRCm39) |
D587G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,117,143 (GRCm39) |
N1003K |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,462 (GRCm39) |
D847G |
probably benign |
Het |
| Atp5f1a |
T |
C |
18: 77,868,758 (GRCm39) |
V417A |
possibly damaging |
Het |
| Avp |
A |
C |
2: 130,422,629 (GRCm39) |
S159A |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,462,981 (GRCm39) |
A915D |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,462 (GRCm39) |
R1185H |
possibly damaging |
Het |
| Cdcp3 |
T |
G |
7: 130,846,487 (GRCm39) |
V637G |
probably damaging |
Het |
| Clrn2 |
A |
G |
5: 45,617,500 (GRCm39) |
I124V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,595,289 (GRCm39) |
K469* |
probably null |
Het |
| Cxcl1 |
T |
A |
5: 91,039,583 (GRCm39) |
N70K |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,458,492 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,202,030 (GRCm39) |
V1281E |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,891,305 (GRCm39) |
Q523L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,445,954 (GRCm39) |
K403R |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,759,336 (GRCm39) |
I262T |
probably benign |
Het |
| Gstm3 |
G |
T |
3: 107,873,474 (GRCm39) |
Q166K |
probably benign |
Het |
| Ilf2 |
T |
A |
3: 90,391,849 (GRCm39) |
N183K |
probably damaging |
Het |
| Ip6k2 |
T |
A |
9: 108,673,512 (GRCm39) |
L40Q |
probably damaging |
Het |
| Itga8 |
A |
T |
2: 12,165,123 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
A |
1: 181,653,208 (GRCm39) |
R70* |
probably null |
Het |
| Lilra6 |
T |
C |
7: 3,917,498 (GRCm39) |
T166A |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,467,846 (GRCm39) |
K1063E |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,949 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,792,197 (GRCm39) |
V408A |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,306,538 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,891 (GRCm39) |
|
probably null |
Het |
| Prrt4 |
A |
G |
6: 29,177,689 (GRCm39) |
S27P |
probably benign |
Het |
| Psmg1 |
G |
A |
16: 95,789,221 (GRCm39) |
T112I |
possibly damaging |
Het |
| Rfx7 |
T |
G |
9: 72,524,343 (GRCm39) |
I511S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,031,198 (GRCm39) |
T481M |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,462,336 (GRCm39) |
D397G |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,578 (GRCm39) |
Y636H |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,314,196 (GRCm39) |
I472N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,995,834 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,782,463 (GRCm39) |
V579A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,162,924 (GRCm39) |
H1002L |
probably damaging |
Het |
|
| Other mutations in Sgms1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Sgms1
|
APN |
19 |
32,137,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Sgms1
|
APN |
19 |
32,137,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02970:Sgms1
|
APN |
19 |
32,137,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1051:Sgms1
|
UTSW |
19 |
32,137,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Sgms1
|
UTSW |
19 |
32,137,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1971:Sgms1
|
UTSW |
19 |
32,137,357 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2001:Sgms1
|
UTSW |
19 |
32,137,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2404:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2405:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R2410:Sgms1
|
UTSW |
19 |
32,137,072 (GRCm39) |
nonsense |
probably null |
|
|
R3747:Sgms1
|
UTSW |
19 |
32,136,994 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4016:Sgms1
|
UTSW |
19 |
32,120,192 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4710:Sgms1
|
UTSW |
19 |
32,137,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Sgms1
|
UTSW |
19 |
32,137,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Sgms1
|
UTSW |
19 |
32,137,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6023:Sgms1
|
UTSW |
19 |
32,101,773 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6106:Sgms1
|
UTSW |
19 |
32,101,825 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6932:Sgms1
|
UTSW |
19 |
32,120,193 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7207:Sgms1
|
UTSW |
19 |
32,120,147 (GRCm39) |
missense |
probably null |
1.00 |
|
R7382:Sgms1
|
UTSW |
19 |
32,137,182 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7494:Sgms1
|
UTSW |
19 |
32,107,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7712:Sgms1
|
UTSW |
19 |
32,120,169 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7759:Sgms1
|
UTSW |
19 |
32,137,276 (GRCm39) |
missense |
probably benign |
|
|
R7872:Sgms1
|
UTSW |
19 |
32,102,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Sgms1
|
UTSW |
19 |
32,137,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Sgms1
|
UTSW |
19 |
32,101,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Sgms1
|
UTSW |
19 |
32,102,697 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8507:Sgms1
|
UTSW |
19 |
32,137,109 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9007:Sgms1
|
UTSW |
19 |
32,137,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9182:Sgms1
|
UTSW |
19 |
32,101,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation