Incidental Mutation 'IGL01733:Metap1d'
ID |
105572 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Metap1d
|
Ensembl Gene |
ENSMUSG00000041921 |
Gene Name |
methionyl aminopeptidase type 1D (mitochondrial) |
Synonyms |
2310066F24Rik, 3110033D18Rik, Metapl1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.299)
|
Stock # |
IGL01733
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
71283625-71355538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71341777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 124
(I124V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037210]
|
AlphaFold |
Q9CPW9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037210
AA Change: I124V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048190 Gene: ENSMUSG00000041921 AA Change: I124V
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
Pfam:Peptidase_M24
|
95 |
322 |
5.1e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124875
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138873
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139045
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148164
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
Other mutations in Metap1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Metap1d
|
APN |
2 |
71,342,506 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00475:Metap1d
|
APN |
2 |
71,346,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807_Metap1d_570
|
UTSW |
2 |
71,341,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Metap1d
|
UTSW |
2 |
71,352,889 (GRCm39) |
missense |
probably benign |
|
R1678:Metap1d
|
UTSW |
2 |
71,355,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1917:Metap1d
|
UTSW |
2 |
71,341,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Metap1d
|
UTSW |
2 |
71,352,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2179:Metap1d
|
UTSW |
2 |
71,283,715 (GRCm39) |
missense |
probably benign |
|
R2512:Metap1d
|
UTSW |
2 |
71,352,954 (GRCm39) |
missense |
probably damaging |
0.97 |
R4614:Metap1d
|
UTSW |
2 |
71,355,292 (GRCm39) |
missense |
probably benign |
0.02 |
R4695:Metap1d
|
UTSW |
2 |
71,355,305 (GRCm39) |
makesense |
probably null |
|
R6236:Metap1d
|
UTSW |
2 |
71,346,022 (GRCm39) |
missense |
probably benign |
0.05 |
R6248:Metap1d
|
UTSW |
2 |
71,346,104 (GRCm39) |
nonsense |
probably null |
|
R6807:Metap1d
|
UTSW |
2 |
71,341,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Metap1d
|
UTSW |
2 |
71,337,129 (GRCm39) |
missense |
probably benign |
0.05 |
R7796:Metap1d
|
UTSW |
2 |
71,342,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R8183:Metap1d
|
UTSW |
2 |
71,337,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8337:Metap1d
|
UTSW |
2 |
71,345,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Metap1d
|
UTSW |
2 |
71,352,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2014-01-21 |