Incidental Mutation 'R0312:Mpeg1'
| ID |
25332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
038522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12439767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 408
(N408K)
|
| 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: N408K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: N408K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
T |
12: 118,836,572 (GRCm39) |
A1113D |
probably damaging |
Het |
| Adcy1 |
G |
T |
11: 7,099,538 (GRCm39) |
A673S |
probably benign |
Het |
| Apob |
T |
A |
12: 8,059,034 (GRCm39) |
H2505Q |
probably benign |
Het |
| Arhgap12 |
A |
G |
18: 6,061,982 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
C |
T |
3: 97,116,727 (GRCm39) |
E656K |
probably benign |
Het |
| Bnc1 |
C |
T |
7: 81,627,072 (GRCm39) |
R106H |
possibly damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,411,165 (GRCm39) |
K34E |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,943,226 (GRCm39) |
R1600W |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,034,760 (GRCm39) |
N2470K |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,129,054 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
| Dhx40 |
G |
A |
11: 86,662,775 (GRCm39) |
T639I |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,085 (GRCm39) |
T227A |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,873,433 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,644,882 (GRCm39) |
K1133M |
probably damaging |
Het |
| Dock5 |
G |
C |
14: 68,033,440 (GRCm39) |
F976L |
possibly damaging |
Het |
| Evc |
C |
T |
5: 37,485,885 (GRCm39) |
C97Y |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,874,876 (GRCm39) |
|
probably benign |
Het |
| Fggy |
A |
C |
4: 95,732,422 (GRCm39) |
D112A |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,574,813 (GRCm39) |
Y435H |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,230,231 (GRCm39) |
H1642L |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,394,369 (GRCm39) |
I237F |
probably damaging |
Het |
| Glt1d1 |
A |
G |
5: 127,768,134 (GRCm39) |
N247S |
probably damaging |
Het |
| Gm7647 |
T |
C |
5: 95,110,839 (GRCm39) |
S7P |
probably benign |
Het |
| Gpr31b |
C |
T |
17: 13,270,498 (GRCm39) |
V224I |
probably damaging |
Het |
| Hlf |
G |
A |
11: 90,278,701 (GRCm39) |
P121L |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,520,592 (GRCm39) |
M1I |
probably null |
Het |
| Kansl1l |
T |
C |
1: 66,817,265 (GRCm39) |
N365S |
probably null |
Het |
| Lama1 |
T |
C |
17: 68,082,846 (GRCm39) |
L1368P |
possibly damaging |
Het |
| Lima1 |
A |
G |
15: 99,678,968 (GRCm39) |
V491A |
possibly damaging |
Het |
| Lrch1 |
G |
T |
14: 75,185,034 (GRCm39) |
H23N |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,183 (GRCm39) |
V1488A |
probably damaging |
Het |
| Lrp8 |
T |
C |
4: 107,664,052 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,733 (GRCm39) |
S653G |
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,228,558 (GRCm39) |
T141A |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,147,390 (GRCm39) |
E51G |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,395 (GRCm39) |
T257A |
probably benign |
Het |
| Obox5 |
T |
A |
7: 15,491,485 (GRCm39) |
H8Q |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,372 (GRCm39) |
I105L |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,232 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,202 (GRCm39) |
F101L |
probably benign |
Het |
| Phldb2 |
G |
T |
16: 45,609,410 (GRCm39) |
T732N |
probably damaging |
Het |
| Phyhip |
G |
T |
14: 70,704,410 (GRCm39) |
A210S |
possibly damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,563,409 (GRCm39) |
D1262G |
probably damaging |
Het |
| Pip |
G |
A |
6: 41,826,798 (GRCm39) |
E48K |
possibly damaging |
Het |
| Plk4 |
C |
T |
3: 40,767,982 (GRCm39) |
L74F |
probably damaging |
Het |
| Prdm14 |
G |
A |
1: 13,189,031 (GRCm39) |
R438W |
probably damaging |
Het |
| Rab19 |
G |
A |
6: 39,361,023 (GRCm39) |
R57H |
probably benign |
Het |
| Rtl1 |
G |
T |
12: 109,556,661 (GRCm39) |
P1726Q |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
T |
4: 112,666,297 (GRCm39) |
V1176D |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,067,948 (GRCm39) |
I1012V |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,665,721 (GRCm39) |
M509I |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,824,224 (GRCm39) |
G35E |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,432,335 (GRCm39) |
P801L |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,398,524 (GRCm39) |
G304D |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,805,539 (GRCm39) |
|
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,911,423 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGAAGGGCATCACTAACCAC -3'
(R):5'- GGGGACTGAAAACTTGAACCCCAAC -3'
Sequencing Primer
(F):5'- CACCTAGTGGCAATAGACCGTG -3'
(R):5'- TCCAAAGAGAAGTCCTGAGTTGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation