Incidental Mutation 'R3959:Hmgcs2'
| ID |
310828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcs2
|
| Ensembl Gene |
ENSMUSG00000027875 |
| Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 |
| Synonyms |
mHS |
| MMRRC Submission |
040835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R3959 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98187751-98218054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98204793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 317
(F317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090746]
[ENSMUST00000120541]
|
| AlphaFold |
P54869 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090746
AA Change: F317S
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: F317S
| 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 |
possibly damaging
Transcript: ENSMUST00000120541
AA Change: F317S
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: F317S
| 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 |
0.2440 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,908 (GRCm39) |
H194R |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,507,585 (GRCm39) |
I2976K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,362,329 (GRCm39) |
H3730R |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,162,305 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
T |
7: 89,604,149 (GRCm39) |
R441Q |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,573,120 (GRCm39) |
V944E |
possibly damaging |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,725 (GRCm39) |
Q225L |
probably benign |
Het |
| Mapk8 |
A |
C |
14: 33,104,210 (GRCm39) |
M402R |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,532,688 (GRCm39) |
Y389C |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,333,345 (GRCm39) |
I147T |
probably benign |
Het |
| Nfatc3 |
C |
T |
8: 106,825,709 (GRCm39) |
R587* |
probably null |
Het |
| Nin |
A |
T |
12: 70,097,526 (GRCm39) |
F516L |
probably damaging |
Het |
| Npm1 |
T |
A |
11: 33,104,012 (GRCm39) |
N272Y |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,590 (GRCm39) |
E787G |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,340 (GRCm39) |
V89I |
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,857,244 (GRCm39) |
E189G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,536,461 (GRCm39) |
|
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,599,964 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,399 (GRCm39) |
I87N |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,887,414 (GRCm39) |
T188I |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,886,589 (GRCm39) |
C1930* |
probably null |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,047,947 (GRCm39) |
M6I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,339 (GRCm39) |
L237I |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,142 (GRCm39) |
Q357P |
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 |
|
R3779:Hmgcs2
|
UTSW |
3 |
98,206,428 (GRCm39) |
splice site |
probably benign |
|
|
R3958: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'- GAACCATCTCTCTGGGAAGC -3'
(R):5'- GAAAGAATGGCTTAGCATCCC -3'
Sequencing Primer
(F):5'- ATCTCTCTGGGAAGCTGGGC -3'
(R):5'- GAAAGAATGGCTTAGCATCCCTTCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation