Incidental Mutation 'R2408:Sgms1'
ID |
248114 |
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 |
040374-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.925)
|
Stock # |
R2408 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
32100127-32367114 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 32137072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 165
(R165*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099514]
[ENSMUST00000134415]
[ENSMUST00000142618]
[ENSMUST00000151289]
[ENSMUST00000152340]
[ENSMUST00000151822]
|
AlphaFold |
Q8VCQ6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000099514
AA Change: R165*
|
SMART Domains |
Protein: ENSMUSP00000097114 Gene: ENSMUSG00000040451 AA Change: R165*
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 |
noncoding transcript
Transcript: ENSMUST00000124012
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131768
|
Predicted Effect |
probably null
Transcript: ENSMUST00000134415
AA Change: R165*
|
SMART Domains |
Protein: ENSMUSP00000115785 Gene: ENSMUSG00000040451 AA Change: R165*
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 |
noncoding transcript
Transcript: ENSMUST00000141655
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142618
AA Change: R165*
|
SMART Domains |
Protein: ENSMUSP00000117336 Gene: ENSMUSG00000040451 AA Change: R165*
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 |
noncoding transcript
Transcript: ENSMUST00000149107
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151289
AA Change: R165*
|
SMART Domains |
Protein: ENSMUSP00000123395 Gene: ENSMUSG00000040451 AA Change: R165*
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 null
Transcript: ENSMUST00000152340
AA Change: R165*
|
SMART Domains |
Protein: ENSMUSP00000119869 Gene: ENSMUSG00000040451 AA Change: R165*
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151822
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
97% (33/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
Hnf1a |
C |
T |
5: 115,098,070 (GRCm39) |
|
probably null |
Het |
Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCCCTTCATGGCTGGATC -3'
(R):5'- TGACATTCCCAACCCCGATG -3'
Sequencing Primer
(F):5'- CCTTCATGGCTGGATCTCAAGAG -3'
(R):5'- TGGCAGCTTCAGCATCAAG -3'
|
Posted On |
2014-11-11 |