Incidental Mutation 'R0206:Me3'
| ID |
26240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me3
|
| Ensembl Gene |
ENSMUSG00000030621 |
| Gene Name |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
| Synonyms |
1700020C08Rik, B230207H15Rik |
| MMRRC Submission |
038459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0206 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89281492-89503423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89498868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 483
(T483S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032856]
|
| AlphaFold |
Q8BMF3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032853
|
| SMART Domains |
Protein: ENSMUSP00000032853
Gene: ENSMUSG00000030621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:malic
|
1 |
26 |
7.5e-7 |
PFAM |
|
Malic_M
|
36 |
288 |
5.68e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032856
AA Change: T483S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: T483S
| Domain | Start | End | E-Value | Type |
|---|
|
malic
|
114 |
295 |
4.77e-105 |
SMART |
|
Malic_M
|
305 |
557 |
5.68e-115 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159167
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 95.8%
- 3x: 87.0%
- 10x: 38.5%
- 20x: 5.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
| Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
| Gm20441 |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
| Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
| Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
probably damaging |
Het |
|
| Other mutations in Me3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Me3
|
APN |
7 |
89,498,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01965:Me3
|
APN |
7 |
89,500,951 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02657:Me3
|
APN |
7 |
89,495,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0035:Me3
|
UTSW |
7 |
89,500,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0144:Me3
|
UTSW |
7 |
89,389,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0206:Me3
|
UTSW |
7 |
89,498,868 (GRCm39) |
missense |
probably benign |
|
|
R0360:Me3
|
UTSW |
7 |
89,435,622 (GRCm39) |
splice site |
probably null |
|
|
R1501:Me3
|
UTSW |
7 |
89,282,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1579:Me3
|
UTSW |
7 |
89,495,050 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1613:Me3
|
UTSW |
7 |
89,435,628 (GRCm39) |
splice site |
probably benign |
|
|
R1741:Me3
|
UTSW |
7 |
89,501,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Me3
|
UTSW |
7 |
89,282,230 (GRCm39) |
missense |
probably benign |
|
|
R2177:Me3
|
UTSW |
7 |
89,282,278 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2202:Me3
|
UTSW |
7 |
89,499,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3841:Me3
|
UTSW |
7 |
89,435,701 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3928:Me3
|
UTSW |
7 |
89,482,898 (GRCm39) |
splice site |
probably benign |
|
|
R4183:Me3
|
UTSW |
7 |
89,501,038 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4274:Me3
|
UTSW |
7 |
89,455,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4476:Me3
|
UTSW |
7 |
89,389,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4532:Me3
|
UTSW |
7 |
89,282,108 (GRCm39) |
start gained |
probably benign |
|
|
R4560:Me3
|
UTSW |
7 |
89,498,938 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4947:Me3
|
UTSW |
7 |
89,282,222 (GRCm39) |
missense |
probably benign |
|
|
R5511:Me3
|
UTSW |
7 |
89,455,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5622:Me3
|
UTSW |
7 |
89,445,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Me3
|
UTSW |
7 |
89,497,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6139:Me3
|
UTSW |
7 |
89,282,108 (GRCm39) |
start gained |
probably benign |
|
|
R6265:Me3
|
UTSW |
7 |
89,498,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Me3
|
UTSW |
7 |
89,495,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Me3
|
UTSW |
7 |
89,385,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Me3
|
UTSW |
7 |
89,497,183 (GRCm39) |
nonsense |
probably null |
|
|
R8390:Me3
|
UTSW |
7 |
89,498,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Me3
|
UTSW |
7 |
89,389,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Me3
|
UTSW |
7 |
89,455,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9801:Me3
|
UTSW |
7 |
89,435,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-04-16 |
Incidental Mutation