Incidental Mutation 'R8360:Hmgcs2'
| ID |
652132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcs2
|
| Ensembl Gene |
ENSMUSG00000027875 |
| Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 |
| Synonyms |
mHS |
| MMRRC Submission |
067734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98187751-98218054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98204724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 294
(D294V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090746]
[ENSMUST00000120541]
|
| AlphaFold |
P54869 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090746
AA Change: D294V
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: D294V
| 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: D294V
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: D294V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
96% (43/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
| Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
| Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
| Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
| Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
| Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
| Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
| Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
| Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
| Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
| Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
| Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
| Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
| Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
| Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
probably benign |
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 |
|
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 |
|
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'- ATGCCTGAGGAATGGTTGAG -3'
(R):5'- AATGGCTTAGCATCCCTTCTG -3'
Sequencing Primer
(F):5'- CCTGAGGAATGGTTGAGAGAATGTG -3'
(R):5'- AGGGCTGCCATCTGCTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation