Incidental Mutation 'IGL00475:Metap1d'
| ID |
11964 |
| 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 # |
IGL00475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
71283625-71355538 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71346090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 217
(A217V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037210]
|
| AlphaFold |
Q9CPW9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037210
AA Change: A217V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: A217V
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
A |
16: 14,254,437 (GRCm39) |
A583T |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Ces1a |
A |
G |
8: 93,747,095 (GRCm39) |
L548P |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,725,501 (GRCm39) |
R25* |
probably null |
Het |
| Depdc1b |
T |
A |
13: 108,493,974 (GRCm39) |
Y121N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,736,325 (GRCm39) |
F736L |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,545,571 (GRCm39) |
K868R |
probably benign |
Het |
| Fgd1 |
C |
T |
X: 149,855,440 (GRCm39) |
A502V |
probably benign |
Het |
| Gm5111 |
A |
T |
6: 48,566,620 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,767 (GRCm39) |
G480* |
probably null |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Mrpl1 |
A |
G |
5: 96,374,144 (GRCm39) |
K140E |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,688,495 (GRCm39) |
|
probably null |
Het |
| Ogn |
A |
G |
13: 49,776,391 (GRCm39) |
I277V |
probably benign |
Het |
| Pole |
T |
A |
5: 110,438,962 (GRCm39) |
Y187* |
probably null |
Het |
| Psme4 |
A |
T |
11: 30,795,252 (GRCm39) |
K1254I |
probably benign |
Het |
| Rac1 |
G |
A |
5: 143,493,093 (GRCm39) |
A165V |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,152,093 (GRCm39) |
M2185K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,176,077 (GRCm39) |
D274V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,919,246 (GRCm39) |
Y376* |
probably null |
Het |
| Tead1 |
C |
A |
7: 112,438,662 (GRCm39) |
T66K |
probably damaging |
Het |
| Vps53 |
C |
T |
11: 75,967,861 (GRCm39) |
|
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,223,500 (GRCm39) |
R592G |
possibly damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,602,485 (GRCm39) |
|
probably null |
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 |
|
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 |
2012-12-06 |
Incidental Mutation