Incidental Mutation 'R4207:Me2'
| ID |
368377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me2
|
| Ensembl Gene |
ENSMUSG00000024556 |
| Gene Name |
malic enzyme 2, NAD(+)-dependent, mitochondrial |
| Synonyms |
D030040L20Rik |
| MMRRC Submission |
041036-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4207 (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: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
| Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
| Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
| Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
| Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
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 |
| Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
| Flg |
A |
G |
3: 93,187,169 (GRCm39) |
Y207C |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
| Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,548 (GRCm39) |
D644V |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
| Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Stk39 |
G |
T |
2: 68,051,264 (GRCm39) |
T527K |
probably benign |
Het |
| Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
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 |
| Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
| Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
| Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
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 |
|
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'- AGGCTTAGATGGACAGCCTG -3'
(R):5'- AACAAAGCATATGGGCGTTC -3'
Sequencing Primer
(F):5'- GGTTAGGGTCATTTTATCACAGCCAC -3'
(R):5'- GGCGTTCCCTCATAACCTAG -3'
|
| Posted On |
2016-02-03 |
Incidental Mutation