Incidental Mutation 'R6390:Hibadh'
| ID |
515724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hibadh
|
| Ensembl Gene |
ENSMUSG00000029776 |
| Gene Name |
3-hydroxyisobutyrate dehydrogenase |
| Synonyms |
6430402H10Rik |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
52523215-52617285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 52533474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 214
(L214R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031788]
|
| AlphaFold |
Q99L13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031788
AA Change: L214R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031788
Gene: ENSMUSG00000029776
AA Change: L214R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh_C
|
19 |
154 |
4.6e-10 |
PFAM |
|
Pfam:NAD_binding_2
|
38 |
200 |
1.3e-51 |
PFAM |
|
Pfam:F420_oxidored
|
40 |
133 |
3.4e-7 |
PFAM |
|
Pfam:NAD_binding_11
|
202 |
329 |
6.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204075
|
| Meta Mutation Damage Score |
0.8943 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9a |
G |
T |
1: 75,164,625 (GRCm39) |
P113Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,407,176 (GRCm39) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,350,913 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,830,168 (GRCm39) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,676,825 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 145,801,143 (GRCm39) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm39) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,292,842 (GRCm39) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,565,524 (GRCm39) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 39,034,529 (GRCm39) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,327,437 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,295,255 (GRCm39) |
E49Q |
possibly damaging |
Het |
| Ift57 |
T |
G |
16: 49,582,836 (GRCm39) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,459,367 (GRCm39) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,834 (GRCm39) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 96,931,757 (GRCm39) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,305,883 (GRCm39) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,567,899 (GRCm39) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 34,038,525 (GRCm39) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,537,251 (GRCm39) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,936,426 (GRCm39) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 125,629,958 (GRCm39) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,466,842 (GRCm39) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,234,615 (GRCm39) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,230 (GRCm39) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,679,088 (GRCm39) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,826,051 (GRCm39) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,318,690 (GRCm39) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,740,453 (GRCm39) |
N170K |
probably benign |
Het |
|
| Other mutations in Hibadh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02407:Hibadh
|
APN |
6 |
52,525,874 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03116:Hibadh
|
APN |
6 |
52,525,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Hibadh
|
UTSW |
6 |
52,534,862 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0103:Hibadh
|
UTSW |
6 |
52,534,862 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0468:Hibadh
|
UTSW |
6 |
52,534,755 (GRCm39) |
splice site |
probably benign |
|
|
R0800:Hibadh
|
UTSW |
6 |
52,533,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Hibadh
|
UTSW |
6 |
52,533,448 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4379:Hibadh
|
UTSW |
6 |
52,597,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4614:Hibadh
|
UTSW |
6 |
52,523,915 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4987:Hibadh
|
UTSW |
6 |
52,599,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Hibadh
|
UTSW |
6 |
52,597,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5074:Hibadh
|
UTSW |
6 |
52,597,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5402:Hibadh
|
UTSW |
6 |
52,523,965 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6575:Hibadh
|
UTSW |
6 |
52,524,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Hibadh
|
UTSW |
6 |
52,617,197 (GRCm39) |
missense |
probably benign |
|
|
R7974:Hibadh
|
UTSW |
6 |
52,534,880 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8477:Hibadh
|
UTSW |
6 |
52,617,185 (GRCm39) |
missense |
probably benign |
|
|
R9196:Hibadh
|
UTSW |
6 |
52,525,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hibadh
|
UTSW |
6 |
52,596,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCAACACGCTCCTGAAC -3'
(R):5'- CTAGGTTCTGCTGAGGACAGTG -3'
Sequencing Primer
(F):5'- CCAACTCATTTATTACCATGAACGTC -3'
(R):5'- GGATACATTCCCTTACCTCCAGGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation