Incidental Mutation 'R2177:Me3'
| ID |
236943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me3
|
| Ensembl Gene |
ENSMUSG00000030621 |
| Gene Name |
malic enzyme 3, NADP(+)-dependent, mitochondrial |
| Synonyms |
1700020C08Rik, B230207H15Rik |
| MMRRC Submission |
040179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89281492-89503423 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89282278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 54
(T54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032856]
|
| AlphaFold |
Q8BMF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032856
AA Change: T54P
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000032856
Gene: ENSMUSG00000030621
AA Change: T54P
| 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 |
|
| Meta Mutation Damage Score |
0.2130 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
| Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
| Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
| AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
| Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
| Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
| Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
| Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
G |
8: 72,164,905 (GRCm39) |
S459P |
probably damaging |
Het |
| Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
| Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
| Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
| Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
| Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
| Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
| Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
| Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
| Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
| Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
| Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
| Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
| Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
| Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
| Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
| Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
| Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GGGGACTCCTTGGAGAGTATTC -3'
(R):5'- CATCTCTCCATGTCAAGAGGGG -3'
Sequencing Primer
(F):5'- AGGACCTGGCTTGCCTAGAG -3'
(R):5'- CATGTCAAGAGGGGGACGAAAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation