Incidental Mutation 'R3012:Me1'
| ID |
257539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Me1
|
| Ensembl Gene |
ENSMUSG00000032418 |
| Gene Name |
malic enzyme 1, NADP(+)-dependent, cytosolic |
| Synonyms |
Mdh-1, Mod-1, D9Ertd267e, Mod1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3012 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86463416-86577967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86493965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 323
(S323P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034989]
[ENSMUST00000185374]
|
| AlphaFold |
P06801 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034989
AA Change: S323P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034989
Gene: ENSMUSG00000032418
AA Change: S323P
| Domain | Start | End | E-Value | Type |
|---|
|
malic
|
79 |
260 |
7.34e-106 |
SMART |
|
Malic_M
|
270 |
522 |
1.09e-111 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185374
AA Change: S303P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140887
Gene: ENSMUSG00000032418
AA Change: S303P
| Domain | Start | End | E-Value | Type |
|---|
|
malic
|
59 |
240 |
7.34e-106 |
SMART |
|
Malic_M
|
250 |
502 |
1.09e-111 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189968
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit decreased body weight on a medium fat diet, altered cytoplasmic malic enzyme activity, and a male-specific reduction in food intake on a high fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
| Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
| Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
| Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
| Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
| Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
| Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
| Tulp2 |
G |
T |
7: 45,168,187 (GRCm39) |
V188L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
probably damaging |
Het |
|
| Other mutations in Me1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Me1
|
APN |
9 |
86,480,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Me1
|
APN |
9 |
86,480,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02231:Me1
|
APN |
9 |
86,493,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02343:Me1
|
APN |
9 |
86,536,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02444:Me1
|
APN |
9 |
86,464,967 (GRCm39) |
splice site |
probably benign |
|
|
IGL02655:Me1
|
APN |
9 |
86,536,780 (GRCm39) |
splice site |
probably benign |
|
|
IGL03282:Me1
|
APN |
9 |
86,495,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0116:Me1
|
UTSW |
9 |
86,536,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Me1
|
UTSW |
9 |
86,478,257 (GRCm39) |
splice site |
probably benign |
|
|
R0361:Me1
|
UTSW |
9 |
86,533,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Me1
|
UTSW |
9 |
86,469,096 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1601:Me1
|
UTSW |
9 |
86,560,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Me1
|
UTSW |
9 |
86,532,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2085:Me1
|
UTSW |
9 |
86,495,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Me1
|
UTSW |
9 |
86,536,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Me1
|
UTSW |
9 |
86,561,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5540:Me1
|
UTSW |
9 |
86,561,926 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6129:Me1
|
UTSW |
9 |
86,533,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6727:Me1
|
UTSW |
9 |
86,464,851 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7718:Me1
|
UTSW |
9 |
86,561,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Me1
|
UTSW |
9 |
86,501,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Me1
|
UTSW |
9 |
86,480,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Me1
|
UTSW |
9 |
86,480,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9460:Me1
|
UTSW |
9 |
86,495,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Me1
|
UTSW |
9 |
86,469,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF001:Me1
|
UTSW |
9 |
86,464,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCGTTATTAGTAAATCTGAATGGC -3'
(R):5'- ACTCAGTGGACAGAGCTGTTTTG -3'
Sequencing Primer
(F):5'- CGAGTACAGTCAGTGTGTCACTAAC -3'
(R):5'- GACAGAGCTGTTTTGCAATTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation