Incidental Mutation 'R6462:Me2'
| ID |
517657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me2
|
| Ensembl Gene |
ENSMUSG00000024556 |
| Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
| Synonyms |
D030040L20Rik |
| MMRRC Submission |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
73902974-73948520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73908470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 490
(V490F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025439]
|
| AlphaFold |
Q99KE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025439
AA Change: V490F
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025439
Gene: ENSMUSG00000024556
AA Change: V490F
| 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 |
0.5021 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,463,689 (GRCm39) |
E116K |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
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 |
|
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 |
|
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'- CGCAGCGTCTACAGACATTTG -3'
(R):5'- TGACTGAAGAAGGCCCTAACAC -3'
Sequencing Primer
(F):5'- CGTCTACAGACATTTGAAAAGCTGG -3'
(R):5'- TGTCAAAACACTGCACCTATTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation