Incidental Mutation 'R4986:Mdh1'
| ID |
385882 |
| 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 |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21506692-21521934 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21508545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 266
(F266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102874]
[ENSMUST00000125302]
|
| AlphaFold |
P14152 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102874
AA Change: F266L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099938
Gene: ENSMUSG00000020321
AA Change: F266L
| 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 |
0.7217 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
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 |
|
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 |
|
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'- ATCTTGCTTTCCAGAACAGTTTCAG -3'
(R):5'- TCATGATCTGGAAGTGTAGATGAAGTG -3'
Sequencing Primer
(F):5'- GCTTTCCAGAACAGTTTCAGTATTG -3'
(R):5'- AAGTGATATCTGTGACCCAGTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation