Incidental Mutation 'R3791:Hmgcl'
| ID |
272524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgcl
|
| Ensembl Gene |
ENSMUSG00000028672 |
| Gene Name |
3-hydroxy-3-methylglutaryl-Coenzyme A lyase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3791 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135673759-135689928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135687298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 191
(K191R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030432]
[ENSMUST00000102541]
[ENSMUST00000143304]
[ENSMUST00000149636]
|
| AlphaFold |
P38060 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030432
AA Change: K191R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672
AA Change: K191R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMGL-like
|
32 |
306 |
2.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102541
|
| SMART Domains |
Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
1 |
184 |
3.5e-14 |
PFAM |
|
Pfam:KR
|
3 |
144 |
9.5e-10 |
PFAM |
|
Pfam:Polysacc_synt_2
|
4 |
193 |
7.6e-14 |
PFAM |
|
Pfam:Epimerase
|
4 |
269 |
3.5e-54 |
PFAM |
|
Pfam:3Beta_HSD
|
5 |
172 |
2e-18 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
5 |
332 |
2.5e-60 |
PFAM |
|
Pfam:NAD_binding_4
|
62 |
233 |
2.5e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128929
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143304
|
| SMART Domains |
Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
4 |
55 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149636
|
| SMART Domains |
Protein: ENSMUSP00000117923
Gene: ENSMUSG00000028671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Epimerase
|
4 |
58 |
1.3e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
|
|
R2400:Hmgcl
|
UTSW |
4 |
135,679,679 (GRCm39) |
splice site |
probably null |
|
|
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'- TTGCAGCCACTGGGTAATGC -3'
(R):5'- ACGATGAAATGGTACTTCCCTGC -3'
Sequencing Primer
(F):5'- AGCCACTGGGTAATGCTGGTC -3'
(R):5'- AATATGGGCGCACGGCTTTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation