Incidental Mutation 'IGL01129:Mppe1'
| ID |
53193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mppe1
|
| Ensembl Gene |
ENSMUSG00000062526 |
| Gene Name |
metallophosphoesterase 1 |
| Synonyms |
Pgap5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67358119-67378901 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 67370515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 61
(G61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073054]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073054
AA Change: G61*
|
| SMART Domains |
Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: G61*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
68 |
308 |
3.3e-13 |
PFAM |
|
transmembrane domain
|
358 |
380 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Mppe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03028:Mppe1
|
APN |
18 |
67,360,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Mppe1
|
UTSW |
18 |
67,358,775 (GRCm39) |
makesense |
probably null |
|
|
R0538:Mppe1
|
UTSW |
18 |
67,370,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Mppe1
|
UTSW |
18 |
67,370,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1170:Mppe1
|
UTSW |
18 |
67,360,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Mppe1
|
UTSW |
18 |
67,362,843 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2229:Mppe1
|
UTSW |
18 |
67,361,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3874:Mppe1
|
UTSW |
18 |
67,358,957 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4194:Mppe1
|
UTSW |
18 |
67,361,139 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4775:Mppe1
|
UTSW |
18 |
67,359,930 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4940:Mppe1
|
UTSW |
18 |
67,361,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Mppe1
|
UTSW |
18 |
67,361,133 (GRCm39) |
missense |
probably benign |
|
|
R4979:Mppe1
|
UTSW |
18 |
67,362,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Mppe1
|
UTSW |
18 |
67,358,889 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5784:Mppe1
|
UTSW |
18 |
67,361,098 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5895:Mppe1
|
UTSW |
18 |
67,358,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6547:Mppe1
|
UTSW |
18 |
67,362,059 (GRCm39) |
missense |
probably benign |
|
|
R7161:Mppe1
|
UTSW |
18 |
67,362,842 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7580:Mppe1
|
UTSW |
18 |
67,370,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Mppe1
|
UTSW |
18 |
67,358,775 (GRCm39) |
makesense |
probably null |
|
|
R7700:Mppe1
|
UTSW |
18 |
67,358,775 (GRCm39) |
makesense |
probably null |
|
|
R7908:Mppe1
|
UTSW |
18 |
67,362,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8399:Mppe1
|
UTSW |
18 |
67,358,946 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8896:Mppe1
|
UTSW |
18 |
67,370,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Mppe1
|
UTSW |
18 |
67,358,925 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2013-06-21 |
Incidental Mutation