Incidental Mutation 'R3854:Mdh1'
| ID |
276070 |
| 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 |
041605-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3854 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21506692-21521934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21509281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 234
(V234I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102874]
[ENSMUST00000125302]
|
| AlphaFold |
P14152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102874
AA Change: V234I
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: V234I
| 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 |
probably benign
Transcript: ENSMUST00000125302
|
| SMART Domains |
Protein: ENSMUSP00000119816
Gene: ENSMUSG00000020321
| 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: ENSMUST00000146146
|
| Meta Mutation Damage Score |
0.1553 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
96% (46/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
C |
2: 58,352,946 (GRCm39) |
K338R |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,565 (GRCm39) |
P482L |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,156,776 (GRCm39) |
D154G |
probably benign |
Het |
| Apoa1 |
A |
G |
9: 46,141,521 (GRCm39) |
S206G |
probably benign |
Het |
| Aspdh |
T |
C |
7: 44,115,613 (GRCm39) |
V5A |
possibly damaging |
Het |
| Bend3 |
AAGGACCA |
AA |
10: 43,386,713 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,103,808 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
A |
G |
19: 4,889,546 (GRCm39) |
I13V |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,288,525 (GRCm39) |
N319Y |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,238,227 (GRCm39) |
S66G |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,789 (GRCm39) |
C441R |
probably damaging |
Het |
| Clstn2 |
G |
A |
9: 97,345,648 (GRCm39) |
Q567* |
probably null |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,765,624 (GRCm39) |
N1093S |
probably benign |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,699,905 (GRCm39) |
A1744T |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbll1 |
T |
A |
11: 35,688,526 (GRCm39) |
T246S |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,243,353 (GRCm39) |
T910S |
probably damaging |
Het |
| Fcna |
C |
T |
2: 25,517,784 (GRCm39) |
G22D |
possibly damaging |
Het |
| Gadl1 |
G |
T |
9: 115,835,732 (GRCm39) |
E387* |
probably null |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Lbr |
G |
A |
1: 181,659,280 (GRCm39) |
T167I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,308,081 (GRCm39) |
H420R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or10z1 |
T |
A |
1: 174,077,716 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,161,105 (GRCm39) |
K297* |
probably null |
Het |
| Or51r1 |
T |
G |
7: 102,228,227 (GRCm39) |
L175R |
probably damaging |
Het |
| Pgap3 |
T |
C |
11: 98,281,638 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,653,003 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,752,240 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,137 (GRCm39) |
I188V |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,328,190 (GRCm39) |
I634F |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,917,596 (GRCm39) |
C485S |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,058 (GRCm39) |
M33L |
probably benign |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
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 |
|
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 |
|
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'- GACAGTTGACAGCACAGCTTAG -3'
(R):5'- GCTTCCCTGTATTTAGTGTCACATG -3'
Sequencing Primer
(F):5'- AAGTAACATTTGGGGGCTCC -3'
(R):5'- TTTCAGCCATGCTTGCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation