Incidental Mutation 'R6139:Me3'
| ID |
488488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me3
|
| Ensembl Gene |
ENSMUSG00000030621 |
| Gene Name |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
| Synonyms |
1700020C08Rik, B230207H15Rik |
| MMRRC Submission |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6139 (G1)
|
| Quality Score |
143.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89281492-89503423 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to T
at 89282108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032856]
|
| AlphaFold |
Q8BMF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032856
|
| SMART Domains |
Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172178
|
| SMART Domains |
Protein: ENSMUSP00000127686
Gene: ENSMUSG00000092071
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,036,154 (GRCm39) |
T1472M |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,360 (GRCm39) |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,242 (GRCm39) |
L1275Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
| Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,231 (GRCm39) |
S728T |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,339 (GRCm39) |
T327I |
probably damaging |
Het |
| Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
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 |
|
|
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 |
|
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 |
2017-10-10 |
Incidental Mutation