Incidental Mutation 'IGL00095:Mpeg1'
ID |
655 |
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 # |
IGL00095
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 12440074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 511
(F511L)
|
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: F511L
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108573 Gene: ENSMUSG00000046805 AA Change: F511L
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
Other mutations in Mpeg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |