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: 0.270)
|
| 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 |
Incidental Mutation