Incidental Mutation 'R1436:Mpeg1'
| ID |
160672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
039491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12439823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 427
(S427F)
|
| 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: S427F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: S427F
| 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 |
0.2232 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
| Validation Efficiency |
94% (65/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
| Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
| Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
| Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
| Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
| Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
| Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
| Ikbkb |
T |
A |
8: 23,163,419 (GRCm39) |
N297I |
probably benign |
Het |
| Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
| Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
| Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
| Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
| Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
| Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
| Rhot2 |
A |
C |
17: 26,060,374 (GRCm39) |
S277R |
probably benign |
Het |
| Satb1 |
T |
G |
17: 52,111,391 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
| Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,040,580 (GRCm39) |
Y561H |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
| Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
| Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
| Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
| Trip4 |
A |
T |
9: 65,788,233 (GRCm39) |
W71R |
probably damaging |
Het |
| Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
| Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
| Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,361,196 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCGAAAGTCACCAACTTCACC -3'
(R):5'- GGGGACTGAAAACTTGAACCCCAAC -3'
Sequencing Primer
(F):5'- CCTTTGGTGGAGTTTATCAGGAATG -3'
(R):5'- TTGTCAGTGAAGACTCCTCCAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation