Incidental Mutation 'IGL02273:Mdh1'
| ID |
287227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdh1
|
| Ensembl Gene |
ENSMUSG00000020321 |
| Gene Name |
malate dehydrogenase 1, NAD (soluble) |
| Synonyms |
Mor-2, B230377B03Rik, MDH-s, Mor2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21506692-21521934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21509786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 196
(N196K)
|
| 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: N196K
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: N196K
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175427
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation