Incidental Mutation 'R2404:Sgms1'
ID |
248891 |
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 |
040370-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.931)
|
Stock # |
R2404 (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 |
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 |
noncoding transcript
Transcript: ENSMUST00000149107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151822
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
Validation Efficiency |
98% (52/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGGCTGGATCTCAAGAGTG -3'
(R):5'- ATTGGCGTTGACATTCCCAAC -3'
Sequencing Primer
(F):5'- CATGGCTGGATCTCAAGAGTGTTTAC -3'
(R):5'- TGGCAGCTTCAGCATCAAG -3'
|
Posted On |
2014-11-11 |