Incidental Mutation 'R0771:Mdh1'
| ID |
76959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdh1
|
| Ensembl Gene |
ENSMUSG00000020321 |
| Gene Name |
malate dehydrogenase 1, NAD (soluble) |
| Synonyms |
Mor-2, B230377B03Rik, MDH-s, Mor2 |
| MMRRC Submission |
038951-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0771 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
21506692-21521934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21507550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 300
(V300I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102874]
|
| AlphaFold |
P14152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102874
AA Change: V300I
PolyPhen 2
Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: V300I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
5 |
153 |
7.3e-41 |
PFAM |
|
Pfam:Ldh_1_C
|
156 |
331 |
1.2e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146146
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. A pseudogene has been identified on chromosomes 12. [provided by RefSeq, Feb 2016]
PHENOTYPE: An ENU-induced mutation results in prenatal lethality in homozygotes and decreased enzyme activity in heterozygotes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,346,509 (GRCm39) |
E434G |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
| Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gadl1 |
G |
A |
9: 115,773,300 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
| Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
| Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
| Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
| Or5ap2 |
A |
T |
2: 85,680,338 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,256,467 (GRCm39) |
V455M |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
| Other mutations in Mdh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02171:Mdh1
|
APN |
11 |
21,507,438 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02273:Mdh1
|
APN |
11 |
21,509,786 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03198:Mdh1
|
APN |
11 |
21,514,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4480001:Mdh1
|
UTSW |
11 |
21,508,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Mdh1
|
UTSW |
11 |
21,509,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3854:Mdh1
|
UTSW |
11 |
21,509,281 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3855:Mdh1
|
UTSW |
11 |
21,509,281 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3886:Mdh1
|
UTSW |
11 |
21,509,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4474:Mdh1
|
UTSW |
11 |
21,516,624 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4507:Mdh1
|
UTSW |
11 |
21,508,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4724:Mdh1
|
UTSW |
11 |
21,512,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4986:Mdh1
|
UTSW |
11 |
21,508,545 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5472:Mdh1
|
UTSW |
11 |
21,509,786 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7088:Mdh1
|
UTSW |
11 |
21,508,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Mdh1
|
UTSW |
11 |
21,514,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9717:Mdh1
|
UTSW |
11 |
21,521,870 (GRCm39) |
unclassified |
probably benign |
|
|
R9765:Mdh1
|
UTSW |
11 |
21,512,926 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Mdh1
|
UTSW |
11 |
21,512,870 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTCTGAAATTGATTGGGCTTCC -3'
(R):5'- TGTTCATCCAGGGCAGACTCACTC -3'
Sequencing Primer
(F):5'- CAGAGTCTGAGAGATTTTCACTTG -3'
(R):5'- TCGTCCCTAGTATGCAGGAGAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation