Incidental Mutation 'R3954:Me2'
ID |
308130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Me2
|
Ensembl Gene |
ENSMUSG00000024556 |
Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
Synonyms |
D030040L20Rik |
MMRRC Submission |
040831-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
73902974-73948520 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73914203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 443
(F443L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025439]
|
AlphaFold |
Q99KE1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025439
AA Change: F443L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025439 Gene: ENSMUSG00000024556 AA Change: F443L
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 |
0.9071 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (42/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
Arhgef19 |
A |
G |
4: 140,983,645 (GRCm39) |
Y726C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,676,826 (GRCm39) |
Y792H |
probably damaging |
Het |
Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
Nkx6-3 |
G |
T |
8: 23,643,742 (GRCm39) |
A48S |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,097,547 (GRCm39) |
C305R |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
Omd |
A |
T |
13: 49,743,213 (GRCm39) |
I88F |
probably benign |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
possibly 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 |
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'- CTCCTAAAGAATTCCATGGACATGTTC -3'
(R):5'- TGCTAGGGTTTAAAGAGAGCCTC -3'
Sequencing Primer
(F):5'- TGGGAATCGAACCAGGTTCTC -3'
(R):5'- GGGTTTAAAGAGAGCCTCATTTCAG -3'
|
Posted On |
2015-04-17 |