Incidental Mutation 'R0579:Hmgcs2'
| ID |
56349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcs2
|
| Ensembl Gene |
ENSMUSG00000027875 |
| Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 |
| Synonyms |
mHS |
| MMRRC Submission |
038769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R0579 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
98187751-98218054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98198264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 56
(I56F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090746]
[ENSMUST00000120541]
|
| AlphaFold |
P54869 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090746
AA Change: I56F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088249
Gene: ENSMUSG00000027875
AA Change: I56F
| 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 damaging
Transcript: ENSMUST00000120541
AA Change: I56F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113296
Gene: ENSMUSG00000027875
AA Change: I56F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196040
|
| Meta Mutation Damage Score |
0.9051 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
89% (34/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
A |
16: 20,369,398 (GRCm39) |
R260Q |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,121,969 (GRCm39) |
V136A |
probably damaging |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Ambra1 |
A |
G |
2: 91,654,810 (GRCm39) |
N783S |
possibly damaging |
Het |
| Cd300ld2 |
A |
G |
11: 114,903,125 (GRCm39) |
F240S |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,584,915 (GRCm39) |
D340G |
possibly damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,049 (GRCm39) |
I403N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,312 (GRCm39) |
M2881K |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,621 (GRCm39) |
M1138V |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,969,575 (GRCm39) |
V112A |
probably benign |
Het |
| F2r |
A |
G |
13: 95,754,857 (GRCm39) |
V9A |
probably benign |
Het |
| Flot1 |
C |
A |
17: 36,141,900 (GRCm39) |
S337R |
probably benign |
Het |
| Glt28d2 |
G |
A |
3: 85,779,440 (GRCm39) |
T11I |
probably damaging |
Het |
| Gm19345 |
A |
G |
7: 19,588,901 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Il21 |
T |
G |
3: 37,281,923 (GRCm39) |
K74Q |
possibly damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,983,011 (GRCm39) |
Y370* |
probably null |
Het |
| Kif24 |
G |
A |
4: 41,393,706 (GRCm39) |
P1056S |
probably damaging |
Het |
| L2hgdh |
A |
T |
12: 69,748,046 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,724,298 (GRCm39) |
L156Q |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,063,844 (GRCm39) |
M84K |
probably benign |
Het |
| Npy4r |
G |
A |
14: 33,868,640 (GRCm39) |
T216I |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,238 (GRCm39) |
V47A |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or6c1 |
A |
T |
10: 129,518,106 (GRCm39) |
C167* |
probably null |
Het |
| Pafah1b2 |
T |
C |
9: 45,880,011 (GRCm39) |
E222G |
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,510,115 (GRCm39) |
D406E |
possibly damaging |
Het |
| Proser1 |
A |
G |
3: 53,374,572 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,266,913 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
A |
15: 8,717,793 (GRCm39) |
I100F |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,272 (GRCm39) |
D176G |
probably damaging |
Het |
| Stard7 |
T |
C |
2: 127,126,473 (GRCm39) |
V99A |
probably damaging |
Het |
| Stk33 |
C |
T |
7: 108,924,904 (GRCm39) |
V184I |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,342,745 (GRCm39) |
L51P |
probably benign |
Het |
| Tppp |
T |
C |
13: 74,169,352 (GRCm39) |
S31P |
probably benign |
Het |
| Upf2 |
A |
T |
2: 5,993,240 (GRCm39) |
R599W |
unknown |
Het |
| Vav1 |
G |
T |
17: 57,586,271 (GRCm39) |
W25L |
probably benign |
Het |
|
| Other mutations in Hmgcs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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'- GCTTGAAAGTCGGACAGACTACCATAC -3'
(R):5'- AGCTTTGTGCGTTCCATCAGCC -3'
Sequencing Primer
(F):5'- acataccttcaaaacatactaagacg -3'
(R):5'- AGCCTCTGTACCACTGTCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation