Incidental Mutation 'R4208:Me2'
ID |
371070 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Me2
|
Ensembl Gene |
ENSMUSG00000024556 |
Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
Synonyms |
D030040L20Rik |
MMRRC Submission |
041037-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4208 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
73902974-73948520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73924156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 352
(K352R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025439]
|
AlphaFold |
Q99KE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025439
AA Change: K352R
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000025439 Gene: ENSMUSG00000024556 AA Change: K352R
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 |
0.0807 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,910,060 (GRCm39) |
L284P |
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,071,840 (GRCm39) |
H128R |
probably benign |
Het |
Aoc1l2 |
A |
T |
6: 48,908,581 (GRCm39) |
D527V |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,192,063 (GRCm39) |
S557P |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Casp12 |
T |
C |
9: 5,346,629 (GRCm39) |
L52P |
probably damaging |
Het |
Cep126 |
C |
T |
9: 8,100,822 (GRCm39) |
E571K |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,475,616 (GRCm39) |
|
probably benign |
Het |
Cmah |
A |
G |
13: 24,601,410 (GRCm39) |
|
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,539 (GRCm39) |
P504S |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 64,795,557 (GRCm39) |
D758E |
probably benign |
Het |
Cyp2c65 |
T |
C |
19: 39,079,099 (GRCm39) |
S393P |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
F13b |
G |
T |
1: 139,444,079 (GRCm39) |
W471L |
probably damaging |
Het |
Fam181a |
A |
G |
12: 103,282,173 (GRCm39) |
D26G |
probably damaging |
Het |
Gabpb2 |
A |
G |
3: 95,111,245 (GRCm39) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,534,879 (GRCm39) |
|
noncoding transcript |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,362,768 (GRCm39) |
E557G |
probably benign |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
Lsr |
A |
G |
7: 30,672,519 (GRCm39) |
I27T |
probably benign |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,426 (GRCm39) |
T571A |
probably benign |
Het |
Or4c1 |
A |
T |
2: 89,133,270 (GRCm39) |
I222N |
probably damaging |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
Padi1 |
C |
A |
4: 140,544,538 (GRCm39) |
V552L |
possibly damaging |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
RP24-126A19.1 |
C |
A |
5: 146,832,606 (GRCm39) |
R123L |
noncoding transcript |
Het |
Scn10a |
T |
A |
9: 119,445,842 (GRCm39) |
E1438V |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,547,793 (GRCm39) |
D458E |
probably damaging |
Het |
Slitrk3 |
T |
A |
3: 72,958,490 (GRCm39) |
Y94F |
possibly damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trbv23 |
A |
T |
6: 41,193,022 (GRCm39) |
I6F |
probably benign |
Het |
Vmn1r87 |
A |
G |
7: 12,866,185 (GRCm39) |
V34A |
probably benign |
Het |
Zc3h7a |
C |
T |
16: 10,982,508 (GRCm39) |
E6K |
possibly damaging |
Het |
Zfp606 |
G |
A |
7: 12,228,102 (GRCm39) |
C683Y |
probably damaging |
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 |
R3422:Me2
|
UTSW |
18 |
73,924,265 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TTAGGCTTAGATGGACAGCCTG -3'
(R):5'- CAAAGCATATGGGCGTTCC -3'
Sequencing Primer
(F):5'- GGTTAGGGTCATTTTATCACAGCCAC -3'
(R):5'- GGCGTTCCCTCATAACCTAG -3'
|
Posted On |
2016-02-12 |