Incidental Mutation 'R4079:Mpeg1'
ID |
316785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mpeg1
|
Ensembl Gene |
ENSMUSG00000046805 |
Gene Name |
macrophage expressed gene 1 |
Synonyms |
MPS1, Perforin-2, Mpg-1 |
MMRRC Submission |
040976-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12439634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 364
(N364S)
|
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 damaging
Transcript: ENSMUST00000081035
AA Change: N364S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108573 Gene: ENSMUSG00000046805 AA Change: N364S
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 |
|
Meta Mutation Damage Score |
0.7110 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
C |
G |
4: 126,247,473 (GRCm39) |
|
probably null |
Het |
Ankfy1 |
C |
A |
11: 72,580,835 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,720,694 (GRCm39) |
N121K |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,140,851 (GRCm39) |
|
probably benign |
Het |
Bnc1 |
T |
C |
7: 81,623,508 (GRCm39) |
E573G |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Cbfa2t3 |
A |
G |
8: 123,374,434 (GRCm39) |
|
probably null |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdc45 |
A |
T |
16: 18,630,110 (GRCm39) |
V19D |
probably damaging |
Het |
Cfap57 |
C |
A |
4: 118,456,194 (GRCm39) |
S500I |
probably benign |
Het |
Cnga3 |
A |
T |
1: 37,280,946 (GRCm39) |
Q47L |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,661,226 (GRCm39) |
D89G |
probably benign |
Het |
Cox16 |
A |
T |
12: 81,521,109 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,006,791 (GRCm39) |
N50S |
probably benign |
Het |
Diaph1 |
T |
A |
18: 37,986,636 (GRCm39) |
E1116D |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,328 (GRCm39) |
D1535G |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
Fcer1a |
C |
T |
1: 173,052,920 (GRCm39) |
C36Y |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,892,120 (GRCm39) |
V318A |
probably damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Kpna7 |
A |
G |
5: 144,942,737 (GRCm39) |
I83T |
possibly damaging |
Het |
Llgl1 |
C |
A |
11: 60,601,110 (GRCm39) |
|
probably null |
Het |
Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Mfn1 |
T |
G |
3: 32,596,998 (GRCm39) |
L152W |
probably damaging |
Het |
Mog |
A |
G |
17: 37,323,302 (GRCm39) |
F212S |
probably damaging |
Het |
Mtmr3 |
C |
T |
11: 4,441,057 (GRCm39) |
R531Q |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,357,236 (GRCm39) |
N443S |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,806,123 (GRCm39) |
Y323H |
probably damaging |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,228 (GRCm39) |
H107Q |
probably damaging |
Het |
Or8u10 |
A |
G |
2: 85,915,656 (GRCm39) |
V155A |
possibly damaging |
Het |
Patl1 |
C |
T |
19: 11,908,994 (GRCm39) |
A467V |
probably damaging |
Het |
Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
Phax |
A |
G |
18: 56,709,051 (GRCm39) |
N183S |
possibly damaging |
Het |
Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,021 (GRCm39) |
|
probably null |
Het |
Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,115,510 (GRCm39) |
S693P |
probably benign |
Het |
Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
Serpina3a |
C |
T |
12: 104,085,934 (GRCm39) |
Q320* |
probably null |
Het |
Slc12a1 |
A |
T |
2: 125,042,543 (GRCm39) |
N733I |
possibly damaging |
Het |
Snap47 |
C |
T |
11: 59,319,377 (GRCm39) |
V254I |
probably benign |
Het |
Speer4e2 |
A |
T |
5: 15,027,663 (GRCm39) |
L71Q |
probably damaging |
Het |
St6galnac2 |
A |
T |
11: 116,572,724 (GRCm39) |
L244Q |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
Tns1 |
G |
A |
1: 74,034,467 (GRCm39) |
R192C |
probably damaging |
Het |
Trav6-3 |
T |
C |
14: 53,667,537 (GRCm39) |
L3P |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp32 |
T |
A |
11: 84,930,055 (GRCm39) |
Y574F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGCAATAGACCGTGCTG -3'
(R):5'- TTTACATTCCAGACGACTGTAACCC -3'
Sequencing Primer
(F):5'- CAATAGACCGTGCTGGCTTG -3'
(R):5'- AGACGACTGTAACCCTCTTCATGG -3'
|
Posted On |
2015-05-15 |