Incidental Mutation 'IGL02448:Mpeg1'
| ID |
293608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 12439973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 477
(D477A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
[ENSMUST00000081035]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045521
|
| SMART Domains |
Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
5 |
86 |
1.38e-38 |
SMART |
|
WWE
|
88 |
163 |
6.72e-28 |
SMART |
|
low complexity region
|
175 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
RING
|
406 |
464 |
2.2e-6 |
SMART |
|
Blast:RING
|
510 |
532 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081035
AA Change: D477A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: D477A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
MACPF
|
151 |
350 |
2.13e-58 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
698 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
| Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
| Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,128,393 (GRCm39) |
C1304* |
probably null |
Het |
| Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,099,161 (GRCm39) |
N84I |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
| Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,158,617 (GRCm39) |
F424L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,957,898 (GRCm39) |
Y166F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
| Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
| Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
| Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
| Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
| Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,866,349 (GRCm39) |
T136A |
possibly damaging |
Het |
| Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
| Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
| Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
Het |
|
| Other mutations in Mpeg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Mpeg1
|
APN |
19 |
12,440,074 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL00902:Mpeg1
|
APN |
19 |
12,439,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01141:Mpeg1
|
APN |
19 |
12,440,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Mpeg1
|
APN |
19 |
12,440,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02447:Mpeg1
|
APN |
19 |
12,440,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Mpeg1
|
APN |
19 |
12,438,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03068:Mpeg1
|
APN |
19 |
12,439,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
avoirdupois
|
UTSW |
19 |
12,440,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Mpeg1
|
UTSW |
19 |
12,438,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0310:Mpeg1
|
UTSW |
19 |
12,439,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0312:Mpeg1
|
UTSW |
19 |
12,439,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Mpeg1
|
UTSW |
19 |
12,439,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1356:Mpeg1
|
UTSW |
19 |
12,438,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1396:Mpeg1
|
UTSW |
19 |
12,440,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Mpeg1
|
UTSW |
19 |
12,439,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1497:Mpeg1
|
UTSW |
19 |
12,438,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1714:Mpeg1
|
UTSW |
19 |
12,440,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Mpeg1
|
UTSW |
19 |
12,440,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Mpeg1
|
UTSW |
19 |
12,439,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1933:Mpeg1
|
UTSW |
19 |
12,440,011 (GRCm39) |
nonsense |
probably null |
|
|
R1959:Mpeg1
|
UTSW |
19 |
12,440,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Mpeg1
|
UTSW |
19 |
12,440,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Mpeg1
|
UTSW |
19 |
12,440,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Mpeg1
|
UTSW |
19 |
12,440,402 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2474:Mpeg1
|
UTSW |
19 |
12,439,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Mpeg1
|
UTSW |
19 |
12,440,492 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4079:Mpeg1
|
UTSW |
19 |
12,439,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4245:Mpeg1
|
UTSW |
19 |
12,440,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4451:Mpeg1
|
UTSW |
19 |
12,440,596 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Mpeg1
|
UTSW |
19 |
12,440,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Mpeg1
|
UTSW |
19 |
12,438,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Mpeg1
|
UTSW |
19 |
12,438,545 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R5089:Mpeg1
|
UTSW |
19 |
12,440,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5120:Mpeg1
|
UTSW |
19 |
12,438,793 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Mpeg1
|
UTSW |
19 |
12,439,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Mpeg1
|
UTSW |
19 |
12,439,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5725:Mpeg1
|
UTSW |
19 |
12,440,000 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6147:Mpeg1
|
UTSW |
19 |
12,440,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Mpeg1
|
UTSW |
19 |
12,439,604 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6486:Mpeg1
|
UTSW |
19 |
12,439,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Mpeg1
|
UTSW |
19 |
12,439,322 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7139:Mpeg1
|
UTSW |
19 |
12,439,078 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7204:Mpeg1
|
UTSW |
19 |
12,440,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Mpeg1
|
UTSW |
19 |
12,439,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7665:Mpeg1
|
UTSW |
19 |
12,440,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Mpeg1
|
UTSW |
19 |
12,438,751 (GRCm39) |
missense |
probably benign |
|
|
R8388:Mpeg1
|
UTSW |
19 |
12,440,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8749:Mpeg1
|
UTSW |
19 |
12,439,291 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8755:Mpeg1
|
UTSW |
19 |
12,439,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8773:Mpeg1
|
UTSW |
19 |
12,440,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Mpeg1
|
UTSW |
19 |
12,440,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Mpeg1
|
UTSW |
19 |
12,439,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Mpeg1
|
UTSW |
19 |
12,440,014 (GRCm39) |
missense |
probably benign |
|
|
R9280:Mpeg1
|
UTSW |
19 |
12,439,828 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0064:Mpeg1
|
UTSW |
19 |
12,439,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation