Incidental Mutation 'R3779:Hmgcs2'
ID |
271948 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmgcs2
|
Ensembl Gene |
ENSMUSG00000027875 |
Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 |
Synonyms |
mHS |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R3779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
98187751-98218054 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 98206428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090746]
[ENSMUST00000120541]
|
AlphaFold |
P54869 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090746
|
SMART Domains |
Protein: ENSMUSP00000088249 Gene: ENSMUSG00000027875
Domain | Start | End | E-Value | Type |
Pfam:HMG_CoA_synt_N
|
50 |
223 |
2.9e-111 |
PFAM |
Pfam:HMG_CoA_synt_C
|
224 |
506 |
6.6e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120541
|
SMART Domains |
Protein: ENSMUSP00000113296 Gene: ENSMUSG00000027875
Domain | Start | End | E-Value | Type |
Pfam:HMG_CoA_synt_N
|
50 |
223 |
7.2e-108 |
PFAM |
Pfam:HMG_CoA_synt_C
|
224 |
506 |
1.8e-131 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (47/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
G |
16: 88,424,273 (GRCm39) |
C73R |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,665,628 (GRCm39) |
V371A |
probably damaging |
Het |
Ambn |
C |
A |
5: 88,613,201 (GRCm39) |
|
probably benign |
Het |
Ankrd34a |
T |
C |
3: 96,506,247 (GRCm39) |
F484L |
possibly damaging |
Het |
Bcl11a |
A |
G |
11: 24,114,568 (GRCm39) |
K637R |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,962,337 (GRCm39) |
S1968P |
possibly damaging |
Het |
Cfap61 |
T |
C |
2: 145,792,714 (GRCm39) |
I52T |
probably damaging |
Het |
Cit |
A |
T |
5: 115,997,400 (GRCm39) |
M128L |
probably benign |
Het |
Cnga1 |
G |
T |
5: 72,762,126 (GRCm39) |
L463I |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,094,448 (GRCm39) |
|
probably benign |
Het |
Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,839,515 (GRCm39) |
I1853T |
unknown |
Het |
Flg2 |
C |
T |
3: 93,109,730 (GRCm39) |
S586L |
unknown |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm21886 |
G |
T |
18: 80,132,649 (GRCm39) |
Q170K |
possibly damaging |
Het |
Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
Gm9376 |
T |
C |
14: 118,504,727 (GRCm39) |
V53A |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,574 (GRCm39) |
T90A |
probably damaging |
Het |
Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
Jak1 |
G |
A |
4: 101,013,687 (GRCm39) |
H1014Y |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,306 (GRCm39) |
D253G |
probably damaging |
Het |
Lpin1 |
G |
A |
12: 16,614,569 (GRCm39) |
T404M |
probably damaging |
Het |
Map3k9 |
A |
T |
12: 81,790,565 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
T |
13: 113,039,926 (GRCm39) |
|
probably benign |
Het |
Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
Or6c38 |
A |
G |
10: 128,929,165 (GRCm39) |
F226S |
possibly damaging |
Het |
Pdgfrb |
T |
A |
18: 61,205,738 (GRCm39) |
S575T |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,569,118 (GRCm39) |
Y1247C |
probably damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,260 (GRCm39) |
T181S |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,499,741 (GRCm39) |
V928A |
possibly damaging |
Het |
Skint5 |
C |
T |
4: 113,636,237 (GRCm39) |
|
probably benign |
Het |
Slc24a1 |
A |
G |
9: 64,855,579 (GRCm39) |
Y443H |
unknown |
Het |
Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
Syncrip |
A |
C |
9: 88,358,992 (GRCm39) |
D172E |
probably damaging |
Het |
Tex26 |
T |
C |
5: 149,369,316 (GRCm39) |
I48T |
probably damaging |
Het |
Trpm6 |
A |
C |
19: 18,853,403 (GRCm39) |
I1808L |
possibly damaging |
Het |
Uba2 |
T |
C |
7: 33,854,071 (GRCm39) |
|
probably null |
Het |
Vwa8 |
T |
A |
14: 79,339,762 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
Wrn |
T |
A |
8: 33,731,048 (GRCm39) |
R1095W |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
Other mutations in Hmgcs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0579:Hmgcs2
|
UTSW |
3 |
98,198,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R0657:Hmgcs2
|
UTSW |
3 |
98,198,369 (GRCm39) |
missense |
probably benign |
|
R0724:Hmgcs2
|
UTSW |
3 |
98,204,317 (GRCm39) |
nonsense |
probably null |
|
R2024:Hmgcs2
|
UTSW |
3 |
98,206,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Hmgcs2
|
UTSW |
3 |
98,204,337 (GRCm39) |
nonsense |
probably null |
|
R2202:Hmgcs2
|
UTSW |
3 |
98,198,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Hmgcs2
|
UTSW |
3 |
98,198,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2204:Hmgcs2
|
UTSW |
3 |
98,198,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Hmgcs2
|
UTSW |
3 |
98,198,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3758:Hmgcs2
|
UTSW |
3 |
98,198,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R3958:Hmgcs2
|
UTSW |
3 |
98,204,793 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3959:Hmgcs2
|
UTSW |
3 |
98,204,793 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3960:Hmgcs2
|
UTSW |
3 |
98,204,793 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3962:Hmgcs2
|
UTSW |
3 |
98,198,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4788:Hmgcs2
|
UTSW |
3 |
98,198,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R5102:Hmgcs2
|
UTSW |
3 |
98,187,786 (GRCm39) |
start gained |
probably benign |
|
R5708:Hmgcs2
|
UTSW |
3 |
98,198,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5742:Hmgcs2
|
UTSW |
3 |
98,204,832 (GRCm39) |
missense |
probably benign |
|
R7268:Hmgcs2
|
UTSW |
3 |
98,204,796 (GRCm39) |
missense |
probably benign |
0.02 |
R7294:Hmgcs2
|
UTSW |
3 |
98,198,211 (GRCm39) |
missense |
probably benign |
0.09 |
R7503:Hmgcs2
|
UTSW |
3 |
98,209,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R7767:Hmgcs2
|
UTSW |
3 |
98,198,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R8043:Hmgcs2
|
UTSW |
3 |
98,198,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R8360:Hmgcs2
|
UTSW |
3 |
98,204,724 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8931:Hmgcs2
|
UTSW |
3 |
98,203,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R9167:Hmgcs2
|
UTSW |
3 |
98,204,430 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9183:Hmgcs2
|
UTSW |
3 |
98,198,232 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9211:Hmgcs2
|
UTSW |
3 |
98,204,748 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1176:Hmgcs2
|
UTSW |
3 |
98,198,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACAACAAAAGTGTGCATG -3'
(R):5'- AACTTAGTTGGCCTGTCAGC -3'
Sequencing Primer
(F):5'- GAATGCTTTCTCAGAATGACAGGAC -3'
(R):5'- CCTGTCAGCCCAAGGATG -3'
|
Posted On |
2015-03-25 |