Incidental Mutation 'IGL01671:Metap2'
ID |
103503 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Metap2
|
Ensembl Gene |
ENSMUSG00000036112 |
Gene Name |
methionine aminopeptidase 2 |
Synonyms |
eIF-2-associated p67, 4930584B20Rik, A930035J23Rik, p67 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01671
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
93694351-93732952 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 93707340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047910]
[ENSMUST00000180688]
[ENSMUST00000180840]
[ENSMUST00000181091]
[ENSMUST00000181217]
|
AlphaFold |
O08663 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047910
|
SMART Domains |
Protein: ENSMUSP00000048285 Gene: ENSMUSG00000036112
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
77 |
108 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
167 |
466 |
1.2e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180375
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180392
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180688
|
SMART Domains |
Protein: ENSMUSP00000137652 Gene: ENSMUSG00000036112
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
76 |
107 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
166 |
233 |
2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180840
|
SMART Domains |
Protein: ENSMUSP00000138006 Gene: ENSMUSG00000036112
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
77 |
108 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
167 |
466 |
2.8e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181091
|
SMART Domains |
Protein: ENSMUSP00000137904 Gene: ENSMUSG00000036112
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
77 |
108 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
144 |
443 |
2.2e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181217
|
SMART Domains |
Protein: ENSMUSP00000138083 Gene: ENSMUSG00000036112
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
48 |
N/A |
INTRINSIC |
low complexity region
|
77 |
108 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
177 |
476 |
2.7e-50 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216232
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent proteins. Increased expression of this gene is associated with various forms of cancer, and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. Inhibitors of this gene have also been shown to be effective for the treatment of obesity. A pseudogene of this gene is located on chromosome 2. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015] PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E8.5, smaller size, failure to gastrulate, reduced cell proliferation and absence of a distinct mesoderm. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
Gad2 |
T |
A |
2: 22,513,711 (GRCm39) |
Y49* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Metap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02553:Metap2
|
APN |
10 |
93,701,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Metap2
|
UTSW |
10 |
93,697,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R0749:Metap2
|
UTSW |
10 |
93,715,429 (GRCm39) |
missense |
probably benign |
0.43 |
R1183:Metap2
|
UTSW |
10 |
93,706,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R1459:Metap2
|
UTSW |
10 |
93,704,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Metap2
|
UTSW |
10 |
93,707,345 (GRCm39) |
splice site |
probably null |
|
R1468:Metap2
|
UTSW |
10 |
93,707,345 (GRCm39) |
splice site |
probably null |
|
R1646:Metap2
|
UTSW |
10 |
93,706,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3810:Metap2
|
UTSW |
10 |
93,706,026 (GRCm39) |
nonsense |
probably null |
|
R3811:Metap2
|
UTSW |
10 |
93,706,026 (GRCm39) |
nonsense |
probably null |
|
R3812:Metap2
|
UTSW |
10 |
93,706,026 (GRCm39) |
nonsense |
probably null |
|
R4174:Metap2
|
UTSW |
10 |
93,715,427 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4801:Metap2
|
UTSW |
10 |
93,704,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Metap2
|
UTSW |
10 |
93,704,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Metap2
|
UTSW |
10 |
93,725,462 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5030:Metap2
|
UTSW |
10 |
93,715,539 (GRCm39) |
splice site |
probably null |
|
R5276:Metap2
|
UTSW |
10 |
93,704,794 (GRCm39) |
missense |
probably benign |
0.02 |
R5276:Metap2
|
UTSW |
10 |
93,704,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8191:Metap2
|
UTSW |
10 |
93,701,267 (GRCm39) |
critical splice donor site |
probably null |
|
R8311:Metap2
|
UTSW |
10 |
93,697,384 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9622:Metap2
|
UTSW |
10 |
93,707,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2014-01-21 |