Incidental Mutation 'R2400:Hmgcl'
| ID |
248651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcl
|
| Ensembl Gene |
ENSMUSG00000028672 |
| Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A lyase |
| Synonyms |
|
| MMRRC Submission |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135673759-135689928 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 135679679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030432]
[ENSMUST00000030432]
|
| AlphaFold |
P38060 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030432
|
| SMART Domains |
Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
32 |
306 |
2.4e-73 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000030432
|
| SMART Domains |
Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
32 |
306 |
2.4e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151879
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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 lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Serpinb5 |
A |
G |
1: 106,809,682 (GRCm39) |
T363A |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
Het |
|
| Other mutations in Hmgcl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0226:Hmgcl
|
UTSW |
4 |
135,686,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0825:Hmgcl
|
UTSW |
4 |
135,687,381 (GRCm39) |
missense |
probably benign |
|
|
R3791:Hmgcl
|
UTSW |
4 |
135,687,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4063:Hmgcl
|
UTSW |
4 |
135,686,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Hmgcl
|
UTSW |
4 |
135,689,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5754:Hmgcl
|
UTSW |
4 |
135,677,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6024:Hmgcl
|
UTSW |
4 |
135,682,926 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6658:Hmgcl
|
UTSW |
4 |
135,682,962 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6889:Hmgcl
|
UTSW |
4 |
135,682,953 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7074:Hmgcl
|
UTSW |
4 |
135,681,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7238:Hmgcl
|
UTSW |
4 |
135,689,424 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7733:Hmgcl
|
UTSW |
4 |
135,687,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7997:Hmgcl
|
UTSW |
4 |
135,687,320 (GRCm39) |
nonsense |
probably null |
|
|
R8941:Hmgcl
|
UTSW |
4 |
135,683,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGAACGCCTCGAGTGAGC -3'
(R):5'- CTACGCTTCCAGAGGCTACAAG -3'
Sequencing Primer
(F):5'- CTCGAGTGAGCAGGCTTCTG -3'
(R):5'- GGACACTTCCCTCCCTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation