Incidental Mutation 'IGL00230:Metap1d'
ID |
306807 |
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 # |
IGL00230
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
71283625-71355538 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71342506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 178
(D178E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037210]
|
AlphaFold |
Q9CPW9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037210
AA Change: D178E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048190 Gene: ENSMUSG00000041921 AA Change: D178E
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: ENSMUST00000140271
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bin1 |
C |
T |
18: 32,553,160 (GRCm39) |
A215V |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,156,704 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
C |
T |
4: 96,424,283 (GRCm39) |
R158H |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,243,540 (GRCm39) |
D507G |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,620,149 (GRCm39) |
E245G |
possibly damaging |
Het |
Gal3st1 |
A |
T |
11: 3,949,070 (GRCm39) |
|
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,888,985 (GRCm39) |
Q195L |
probably benign |
Het |
Gfm2 |
A |
G |
13: 97,291,950 (GRCm39) |
T229A |
probably benign |
Het |
Gigyf1 |
A |
G |
5: 137,521,007 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
G |
T |
7: 115,682,789 (GRCm39) |
T264K |
probably damaging |
Het |
Gsk3b |
A |
T |
16: 38,049,069 (GRCm39) |
I389F |
probably benign |
Het |
H2bc14 |
G |
T |
13: 21,906,545 (GRCm39) |
R93L |
possibly damaging |
Het |
Htt |
A |
G |
5: 34,956,752 (GRCm39) |
T194A |
probably benign |
Het |
Ighg3 |
T |
C |
12: 113,323,457 (GRCm39) |
Y273C |
unknown |
Het |
Kdm5b |
T |
A |
1: 134,548,693 (GRCm39) |
V1066D |
probably damaging |
Het |
Kif1a |
G |
T |
1: 92,982,656 (GRCm39) |
A707E |
probably damaging |
Het |
Mars1 |
A |
G |
10: 127,133,875 (GRCm39) |
M674T |
probably benign |
Het |
Mas1 |
T |
C |
17: 13,060,877 (GRCm39) |
D182G |
probably benign |
Het |
Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
Ninl |
T |
C |
2: 150,808,161 (GRCm39) |
E289G |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,551,958 (GRCm39) |
G264V |
possibly damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,461,385 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,853,413 (GRCm39) |
|
probably benign |
Het |
Septin9 |
T |
C |
11: 117,245,630 (GRCm39) |
|
probably benign |
Het |
Sgpp1 |
G |
T |
12: 75,762,968 (GRCm39) |
Y404* |
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,392,930 (GRCm39) |
I788V |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,266,759 (GRCm39) |
M112K |
probably benign |
Het |
Slc22a29 |
T |
C |
19: 8,195,177 (GRCm39) |
M153V |
probably benign |
Het |
Slc9c1 |
T |
G |
16: 45,393,752 (GRCm39) |
V565G |
possibly damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Tec |
C |
T |
5: 72,926,111 (GRCm39) |
A314T |
probably damaging |
Het |
Tg |
A |
G |
15: 66,699,139 (GRCm39) |
I803V |
probably benign |
Het |
Trav9-1 |
A |
T |
14: 53,725,850 (GRCm39) |
I55F |
probably benign |
Het |
Ttll12 |
C |
A |
15: 83,462,857 (GRCm39) |
E536D |
probably benign |
Het |
Ubqln1 |
C |
A |
13: 58,325,806 (GRCm39) |
E152* |
probably null |
Het |
Wwtr1 |
G |
A |
3: 57,370,912 (GRCm39) |
T338I |
probably benign |
Het |
Zdhhc16 |
T |
C |
19: 41,928,099 (GRCm39) |
F206S |
probably benign |
Het |
|
Other mutations in Metap1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00475:Metap1d
|
APN |
2 |
71,346,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01733:Metap1d
|
APN |
2 |
71,341,777 (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 |
2015-04-16 |