Incidental Mutation 'R8390:Me3'
| ID |
647326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me3
|
| Ensembl Gene |
ENSMUSG00000030621 |
| Gene Name |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
| Synonyms |
1700020C08Rik, B230207H15Rik |
| MMRRC Submission |
067755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89281492-89503423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89498803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 461
(G461V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032856]
|
| AlphaFold |
Q8BMF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032856
AA Change: G461V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: G461V
| Domain | Start | End | E-Value | Type |
|---|
|
malic
|
114 |
295 |
4.77e-105 |
SMART |
|
Malic_M
|
305 |
557 |
5.68e-115 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
T |
5: 113,830,841 (GRCm39) |
F50I |
unknown |
Het |
| Abca9 |
A |
T |
11: 110,036,456 (GRCm39) |
M551K |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,914,057 (GRCm39) |
S1145P |
probably damaging |
Het |
| Brix1 |
C |
T |
15: 10,485,954 (GRCm39) |
R9H |
probably benign |
Het |
| C1d |
T |
C |
11: 17,213,993 (GRCm39) |
V83A |
probably damaging |
Het |
| Ciz1 |
G |
T |
2: 32,257,335 (GRCm39) |
V127L |
probably benign |
Het |
| Csnk1g3 |
A |
T |
18: 54,081,150 (GRCm39) |
T374S |
probably benign |
Het |
| Elavl1 |
T |
A |
8: 4,339,623 (GRCm39) |
K320* |
probably null |
Het |
| Foxn3 |
T |
A |
12: 99,355,000 (GRCm39) |
M55L |
probably benign |
Het |
| Gm14399 |
A |
T |
2: 174,972,605 (GRCm39) |
Y383* |
probably null |
Het |
| H2-M10.5 |
T |
A |
17: 37,085,487 (GRCm39) |
H215Q |
probably benign |
Het |
| Hsd17b13 |
C |
A |
5: 104,120,512 (GRCm39) |
C80F |
probably damaging |
Het |
| Ifi206 |
G |
T |
1: 173,308,511 (GRCm39) |
T495N |
|
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,769,534 (GRCm39) |
I86N |
probably damaging |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnh5 |
T |
A |
12: 75,134,532 (GRCm39) |
D339V |
probably damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,440,040 (GRCm39) |
M441I |
probably benign |
Het |
| Mepce |
A |
G |
5: 137,783,441 (GRCm39) |
L295P |
possibly damaging |
Het |
| Mtpap |
T |
A |
18: 4,396,141 (GRCm39) |
Y478N |
probably damaging |
Het |
| Myl12a |
T |
C |
17: 71,303,231 (GRCm39) |
M74V |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,062,559 (GRCm39) |
M99K |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,442,616 (GRCm39) |
T723A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,892,870 (GRCm39) |
I6792N |
probably benign |
Het |
| Or13a19 |
G |
T |
7: 139,903,027 (GRCm39) |
W138C |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,522 (GRCm39) |
L26P |
probably benign |
Het |
| Or5al7 |
A |
G |
2: 85,993,266 (GRCm39) |
V9A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,887 (GRCm39) |
Y123* |
probably null |
Het |
| Or8h10 |
G |
A |
2: 86,808,501 (GRCm39) |
T213I |
probably benign |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
C |
A |
3: 129,012,507 (GRCm39) |
N312K |
probably damaging |
Het |
| Pot1b |
C |
A |
17: 55,999,739 (GRCm39) |
V229L |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,006,329 (GRCm39) |
I232V |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,000,935 (GRCm39) |
E1463G |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,368,604 (GRCm39) |
Y307F |
possibly damaging |
Het |
| Shprh |
G |
A |
10: 11,063,727 (GRCm39) |
E1267K |
possibly damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,694 (GRCm39) |
Y392* |
probably null |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,444,896 (GRCm39) |
G2268R |
probably benign |
Het |
| Tex47 |
G |
A |
5: 7,355,301 (GRCm39) |
E161K |
probably benign |
Het |
| Timd6 |
G |
T |
11: 46,468,082 (GRCm39) |
R52L |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,224,168 (GRCm39) |
L319P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,742,695 (GRCm39) |
T606A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,761,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,092 (GRCm39) |
T46S |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,381,210 (GRCm39) |
Y411* |
probably null |
Het |
| Zfp553 |
A |
G |
7: 126,835,476 (GRCm39) |
T344A |
probably damaging |
Het |
| Zfp62 |
G |
A |
11: 49,106,019 (GRCm39) |
G37S |
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 |
|
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 |
|
|
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'- ACCACCACTGTCAGTAACTTAAAGG -3'
(R):5'- AAAGACAGTGGTACCTCTGCC -3'
Sequencing Primer
(F):5'- CACTGTCAGTAACTTAAAGGGAGGTG -3'
(R):5'- CCGTCAGGAGGAAGATTTCATCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation