Incidental Mutation 'IGL02647:Me2'
ID |
301989 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Me2
|
Ensembl Gene |
ENSMUSG00000024556 |
Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
Synonyms |
D030040L20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02647
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
73902974-73948520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 73930974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 106
(S106R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025439]
|
AlphaFold |
Q99KE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025439
AA Change: S106R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025439 Gene: ENSMUSG00000024556 AA Change: S106R
Domain | Start | End | E-Value | Type |
malic
|
89 |
270 |
3.48e-98 |
SMART |
Malic_M
|
280 |
535 |
2.21e-103 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |