Incidental Mutation 'R4474:Mdh1'
| ID |
330492 |
| 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 |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21506692-21521934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21516624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 33
(D33A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102874]
[ENSMUST00000125302]
|
| AlphaFold |
P14152 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102874
AA Change: D33A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: D33A
| 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 |
possibly damaging
Transcript: ENSMUST00000125302
AA Change: D33A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119816
Gene: ENSMUSG00000020321
AA Change: D33A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
5 |
153 |
5e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175427
|
| Meta Mutation Damage Score |
0.4227 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,023,075 (GRCm39) |
L74P |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
T |
C |
4: 35,708,810 (GRCm39) |
E390G |
probably benign |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,387,927 (GRCm39) |
I120L |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,546,256 (GRCm39) |
|
probably benign |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly damaging |
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 |
|
R0771:Mdh1
|
UTSW |
11 |
21,507,550 (GRCm39) |
missense |
probably benign |
0.27 |
|
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 |
|
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'- AGCTACAGAAATGCACCAGG -3'
(R):5'- GGGACTTTACGATGTCATGTTC -3'
Sequencing Primer
(F):5'- CAGGTGGTTTTCAGTGCCCAC -3'
(R):5'- GTCATGTTCACTTTTAATGCATGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation