Incidental Mutation 'R6023:Sgms1'
| ID |
479064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgms1
|
| Ensembl Gene |
ENSMUSG00000040451 |
| Gene Name |
sphingomyelin synthase 1 |
| Synonyms |
SMS1beta, SMS1gamma, SMS1alpha2, 9530058O11Rik, SMS1, Tmem23, SMS1alpha1 |
| MMRRC Submission |
044195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R6023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
32100127-32367114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32101773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 411
(K411R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099514]
[ENSMUST00000134415]
[ENSMUST00000142618]
[ENSMUST00000151289]
[ENSMUST00000152340]
|
| AlphaFold |
Q8VCQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099514
AA Change: K411R
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097114
Gene: ENSMUSG00000040451
AA Change: K411R
| 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 benign
Transcript: ENSMUST00000142618
AA Change: K411R
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117336
Gene: ENSMUSG00000040451
AA Change: K411R
| 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: ENSMUST00000151289
AA Change: K411R
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123395
Gene: ENSMUSG00000040451
AA Change: K411R
| 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 |
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,843 (GRCm39) |
N1302S |
possibly damaging |
Het |
| Aff3 |
A |
T |
1: 38,257,451 (GRCm39) |
S424T |
probably damaging |
Het |
| Ap2b1 |
C |
T |
11: 83,226,224 (GRCm39) |
T207M |
probably damaging |
Het |
| Appl2 |
T |
C |
10: 83,484,393 (GRCm39) |
Q18R |
probably null |
Het |
| Atrn |
T |
C |
2: 130,862,900 (GRCm39) |
F1327L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,961,372 (GRCm39) |
I47F |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,321 (GRCm39) |
I451N |
probably damaging |
Het |
| Clec3a |
A |
G |
8: 115,144,883 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cpz |
T |
A |
5: 35,669,922 (GRCm39) |
I252F |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,913,433 (GRCm39) |
D143G |
probably benign |
Het |
| Dhrs1 |
A |
T |
14: 55,981,127 (GRCm39) |
Y94* |
probably null |
Het |
| Dnajc25 |
A |
G |
4: 59,013,752 (GRCm39) |
K157E |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,928,545 (GRCm39) |
I789T |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,168,165 (GRCm39) |
F1097V |
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,315,111 (GRCm39) |
T242A |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,505,960 (GRCm39) |
M93K |
probably benign |
Het |
| Glra1 |
A |
T |
11: 55,424,679 (GRCm39) |
V94E |
probably damaging |
Het |
| Got1l1 |
A |
T |
8: 27,689,932 (GRCm39) |
Y151* |
probably null |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,886 (GRCm39) |
I410F |
probably benign |
Het |
| Ighv1-72 |
T |
A |
12: 115,721,532 (GRCm39) |
|
probably benign |
Het |
| Kel |
C |
A |
6: 41,674,409 (GRCm39) |
E340D |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,158 (GRCm39) |
E283G |
probably damaging |
Het |
| Klk4 |
T |
G |
7: 43,533,482 (GRCm39) |
F114V |
probably benign |
Het |
| Krt7 |
T |
C |
15: 101,310,278 (GRCm39) |
|
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,805,380 (GRCm39) |
I401V |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,707,815 (GRCm39) |
S68P |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,694 (GRCm39) |
T824A |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,659,376 (GRCm39) |
Q747R |
possibly damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,271 (GRCm39) |
Y126F |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,311,523 (GRCm39) |
T38A |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,059 (GRCm39) |
D83G |
possibly damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,169 (GRCm39) |
I107V |
possibly damaging |
Het |
| Or52h2 |
T |
C |
7: 103,838,880 (GRCm39) |
H178R |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,067 (GRCm39) |
D120G |
probably damaging |
Het |
| Or7g22 |
A |
C |
9: 19,049,021 (GRCm39) |
H244P |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,978 (GRCm39) |
I436T |
possibly damaging |
Het |
| Pfdn2 |
T |
C |
1: 171,184,319 (GRCm39) |
Y65H |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,537,776 (GRCm39) |
Y58H |
probably benign |
Het |
| Prrt4 |
G |
A |
6: 29,176,452 (GRCm39) |
P291L |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,944,437 (GRCm39) |
V316L |
possibly damaging |
Het |
| Rnf112 |
T |
A |
11: 61,340,555 (GRCm39) |
E525V |
probably damaging |
Het |
| Sh3tc1 |
T |
A |
5: 35,864,295 (GRCm39) |
K631* |
probably null |
Het |
| Syne1 |
T |
C |
10: 5,393,223 (GRCm39) |
M48V |
probably benign |
Het |
| Thrb |
C |
T |
14: 18,011,209 (GRCm38) |
T226I |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,843 (GRCm39) |
D347V |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,565,744 (GRCm39) |
L19876I |
probably damaging |
Het |
| Vars1 |
C |
T |
17: 35,220,585 (GRCm39) |
R56C |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,239 (GRCm39) |
I105V |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,279,988 (GRCm39) |
T313K |
probably benign |
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 |
|
IGL01585:Sgms1
|
APN |
19 |
32,120,245 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGCTGAGCAGGTAACG -3'
(R):5'- GGGATCCTTTGAATTTTAACATGGG -3'
Sequencing Primer
(F):5'- CAGGTAACGCAATAGGTTAAGTC -3'
(R):5'- AACAAATGTGTATGTTCTTTGCTTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation