Incidental Mutation 'R3422:Me2'
| ID |
267098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me2
|
| Ensembl Gene |
ENSMUSG00000024556 |
| Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
| Synonyms |
D030040L20Rik |
| MMRRC Submission |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
73902974-73948520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 73924265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 316
(A316T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025439]
|
| AlphaFold |
Q99KE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025439
AA Change: A316T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: A316T
| Domain | Start | End | E-Value | Type |
|---|
|
malic
|
89 |
270 |
3.48e-98 |
SMART |
|
Malic_M
|
280 |
535 |
2.21e-103 |
SMART |
|
| Meta Mutation Damage Score |
0.7325 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
probably benign |
Het |
|
| Other mutations in Me2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Me2
|
APN |
18 |
73,903,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00977:Me2
|
APN |
18 |
73,924,248 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01161:Me2
|
APN |
18 |
73,903,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL02351:Me2
|
APN |
18 |
73,931,038 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02358:Me2
|
APN |
18 |
73,931,038 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02647:Me2
|
APN |
18 |
73,930,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03172:Me2
|
APN |
18 |
73,903,797 (GRCm39) |
missense |
probably benign |
|
|
Baako
|
UTSW |
18 |
73,931,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
excavator
|
UTSW |
18 |
73,914,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
first_born
|
UTSW |
18 |
73,924,199 (GRCm39) |
nonsense |
probably null |
|
|
muster
|
UTSW |
18 |
73,924,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
powerhouse
|
UTSW |
18 |
73,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
roundup
|
UTSW |
18 |
73,903,744 (GRCm39) |
missense |
probably benign |
|
|
R0018:Me2
|
UTSW |
18 |
73,924,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0018:Me2
|
UTSW |
18 |
73,924,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0032:Me2
|
UTSW |
18 |
73,927,596 (GRCm39) |
missense |
probably benign |
|
|
R0119:Me2
|
UTSW |
18 |
73,903,744 (GRCm39) |
missense |
probably benign |
|
|
R0136:Me2
|
UTSW |
18 |
73,903,744 (GRCm39) |
missense |
probably benign |
|
|
R0299:Me2
|
UTSW |
18 |
73,903,744 (GRCm39) |
missense |
probably benign |
|
|
R0657:Me2
|
UTSW |
18 |
73,903,744 (GRCm39) |
missense |
probably benign |
|
|
R1597:Me2
|
UTSW |
18 |
73,931,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Me2
|
UTSW |
18 |
73,906,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1765:Me2
|
UTSW |
18 |
73,924,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Me2
|
UTSW |
18 |
73,918,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2410:Me2
|
UTSW |
18 |
73,924,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3954:Me2
|
UTSW |
18 |
73,914,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Me2
|
UTSW |
18 |
73,914,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4052:Me2
|
UTSW |
18 |
73,924,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4207:Me2
|
UTSW |
18 |
73,924,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4208:Me2
|
UTSW |
18 |
73,924,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4694:Me2
|
UTSW |
18 |
73,934,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4962:Me2
|
UTSW |
18 |
73,918,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Me2
|
UTSW |
18 |
73,924,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Me2
|
UTSW |
18 |
73,918,852 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6185:Me2
|
UTSW |
18 |
73,924,199 (GRCm39) |
nonsense |
probably null |
|
|
R6305:Me2
|
UTSW |
18 |
73,924,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6462:Me2
|
UTSW |
18 |
73,908,470 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7015:Me2
|
UTSW |
18 |
73,914,218 (GRCm39) |
splice site |
probably null |
|
|
R7085:Me2
|
UTSW |
18 |
73,914,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Me2
|
UTSW |
18 |
73,927,961 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9373:Me2
|
UTSW |
18 |
73,918,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTGTCAATGCCCAACTC -3'
(R):5'- TATTTCTTGGAGCAGGAGAAGTAAG -3'
Sequencing Primer
(F):5'- TGTCAATGCCCAACTCCAACAC -3'
(R):5'- CCTGGACTACATAGTGAGTTCCAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation