Incidental Mutation 'IGL02037:Mpeg1'
| ID |
184561 |
| 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 # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12440660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 706
(T706I)
|
| 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: T706I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: T706I
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
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 |
|
IGL02447:Mpeg1
|
APN |
19 |
12,440,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Mpeg1
|
APN |
19 |
12,439,973 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation