Incidental Mutation 'R5490:Mpeg1'
| ID |
432065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
043051-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12439057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 172
(S172P)
|
| 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: S172P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: S172P
| 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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
C |
T |
11: 84,401,099 (GRCm39) |
G174D |
probably damaging |
Het |
| Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
| Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
| Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
| Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
| Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
| Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
| Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
| Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
| Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
| Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
| Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
| Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
| Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
| Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
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 |
|
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 |
|
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'- AGCAACCTGGAGATGAACTCAG -3'
(R):5'- AGGAGGACCTTACGTGATCC -3'
Sequencing Primer
(F):5'- CCTGGAGTCCTGGATGAATTACC -3'
(R):5'- ACGTGATCCTCCTGAACCAGTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation