Incidental Mutation 'R9110:Mpeg1'
| ID |
692229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
068919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9110 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12440014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 491
(T491S)
|
| 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: T491S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: T491S
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,831,615 (GRCm39) |
|
probably benign |
Het |
| Adam20 |
A |
G |
8: 41,248,907 (GRCm39) |
D339G |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,193,821 (GRCm39) |
Y397F |
probably benign |
Het |
| Ago3 |
C |
T |
4: 126,248,829 (GRCm39) |
G574E |
probably damaging |
Het |
| Angptl4 |
T |
A |
17: 33,999,800 (GRCm39) |
Y133F |
probably benign |
Het |
| Ankrd61 |
T |
C |
5: 143,831,759 (GRCm39) |
D15G |
possibly damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,615,330 (GRCm39) |
S174T |
possibly damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,034,539 (GRCm39) |
D549G |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,453,254 (GRCm39) |
E182G |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,496,327 (GRCm39) |
I1127S |
probably benign |
Het |
| Bivm |
T |
C |
1: 44,168,526 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
T |
A |
1: 179,945,258 (GRCm39) |
S952T |
possibly damaging |
Het |
| Cfap44 |
T |
A |
16: 44,255,923 (GRCm39) |
L1005Q |
probably damaging |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,544,807 (GRCm39) |
F330L |
possibly damaging |
Het |
| Dnah2 |
T |
G |
11: 69,435,208 (GRCm39) |
D54A |
probably benign |
Het |
| Dntt |
A |
T |
19: 41,044,197 (GRCm39) |
|
probably null |
Het |
| Eml2 |
A |
G |
7: 18,925,620 (GRCm39) |
S240G |
probably benign |
Het |
| Fam174b |
G |
A |
7: 73,416,371 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,512,762 (GRCm39) |
S33P |
possibly damaging |
Het |
| Fars2 |
A |
T |
13: 36,430,402 (GRCm39) |
M277L |
probably benign |
Het |
| Ifnar1 |
G |
A |
16: 91,302,150 (GRCm39) |
G542S |
probably benign |
Het |
| Itih5 |
T |
C |
2: 10,191,831 (GRCm39) |
V122A |
probably benign |
Het |
| Jph3 |
A |
G |
8: 122,516,201 (GRCm39) |
I740V |
probably benign |
Het |
| Krtap16-1 |
C |
T |
11: 99,877,386 (GRCm39) |
C6Y |
probably benign |
Het |
| Mettl25b |
G |
A |
3: 87,834,978 (GRCm39) |
H57Y |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,055,605 (GRCm39) |
I998L |
possibly damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,869,233 (GRCm39) |
Q124* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,222,461 (GRCm39) |
S1028T |
possibly damaging |
Het |
| Nxf1 |
A |
T |
19: 8,745,118 (GRCm39) |
H456L |
probably damaging |
Het |
| Or2aj6 |
T |
A |
16: 19,443,743 (GRCm39) |
I36F |
possibly damaging |
Het |
| Or2n1d |
C |
A |
17: 38,646,434 (GRCm39) |
P129T |
probably damaging |
Het |
| Or5af2 |
T |
A |
11: 58,707,959 (GRCm39) |
S42T |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,543 (GRCm39) |
D69E |
probably damaging |
Het |
| Or6c66 |
T |
A |
10: 129,461,820 (GRCm39) |
I37F |
possibly damaging |
Het |
| Otx2 |
T |
C |
14: 48,896,227 (GRCm39) |
N277S |
probably damaging |
Het |
| Pax4 |
T |
C |
6: 28,445,201 (GRCm39) |
N158S |
probably benign |
Het |
| Pgm2 |
T |
G |
5: 64,261,159 (GRCm39) |
S218A |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,402 (GRCm39) |
S1418P |
probably benign |
Het |
| Prkd3 |
T |
A |
17: 79,292,751 (GRCm39) |
D107V |
probably damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,992,398 (GRCm39) |
E174G |
probably benign |
Het |
| Prr7 |
C |
T |
13: 55,620,574 (GRCm39) |
P194L |
probably damaging |
Het |
| Psmd2 |
T |
C |
16: 20,470,994 (GRCm39) |
S46P |
probably damaging |
Het |
| Ptbp2 |
C |
T |
3: 119,541,258 (GRCm39) |
A231T |
possibly damaging |
Het |
| Rae1 |
A |
G |
2: 172,854,016 (GRCm39) |
T265A |
probably benign |
Het |
| Sct |
T |
C |
7: 140,859,007 (GRCm39) |
E2G |
unknown |
Het |
| Sec14l3 |
T |
G |
11: 4,015,007 (GRCm39) |
|
probably null |
Het |
| Sfxn3 |
T |
A |
19: 45,038,727 (GRCm39) |
N131K |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,282,326 (GRCm39) |
D511V |
probably benign |
Het |
| Slc20a2 |
T |
C |
8: 23,025,457 (GRCm39) |
I53T |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,782,941 (GRCm39) |
D331G |
probably damaging |
Het |
| Srms |
C |
T |
2: 180,848,050 (GRCm39) |
R485H |
|
Het |
| Szt2 |
C |
A |
4: 118,242,630 (GRCm39) |
A1486S |
possibly damaging |
Het |
| Tmem87b |
C |
T |
2: 128,684,615 (GRCm39) |
Q459* |
probably null |
Het |
| Vdr |
A |
T |
15: 97,782,753 (GRCm39) |
I23N |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,564 (GRCm39) |
V65A |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,939,743 (GRCm39) |
D498G |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,093 (GRCm39) |
Y603F |
probably benign |
Het |
| Zfp853 |
T |
A |
5: 143,275,320 (GRCm39) |
Q115L |
unknown |
Het |
| Zmiz2 |
C |
A |
11: 6,348,271 (GRCm39) |
Q303K |
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 |
|
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 |
|
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'- AAGAGGGTTACAGTCGTCTGG -3'
(R):5'- AGCTAGGTGTTGGCTGAAGC -3'
Sequencing Primer
(F):5'- TGGAATGTAAAAAGAAATGCACCCTC -3'
(R):5'- CCCGGGACACTTTTTCAGAGATG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation