Incidental Mutation 'R4183:Me3'
ID |
319817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Me3
|
Ensembl Gene |
ENSMUSG00000030621 |
Gene Name |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
Synonyms |
1700020C08Rik, B230207H15Rik |
MMRRC Submission |
041019-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4183 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
89281492-89503423 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89501038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 583
(D583G)
|
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: D583G
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000032856 Gene: ENSMUSG00000030621 AA Change: D583G
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Degs2 |
T |
C |
12: 108,658,358 (GRCm39) |
K207R |
probably damaging |
Het |
Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,451,134 (GRCm39) |
I505T |
probably damaging |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
Mndal |
T |
A |
1: 173,703,337 (GRCm39) |
T23S |
possibly damaging |
Het |
Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Wdr25 |
T |
A |
12: 108,993,257 (GRCm39) |
F491Y |
probably benign |
Het |
Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
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 |
|
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 |
PCR Primer
(F):5'- AGATACTCCTTAGCCCCTGG -3'
(R):5'- CAGGAACAAAGCTATCATCGCTG -3'
Sequencing Primer
(F):5'- GCTGCCAAGTAAGGAGCCTTTAAG -3'
(R):5'- GAACAAAGCTATCATCGCTGTTTGC -3'
|
Posted On |
2015-06-10 |