Incidental Mutation 'R9280:Mpeg1'
| ID |
703591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R9280 (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 G
at 12439828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 429
(T429A)
|
| 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: T429A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: T429A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
G |
T |
6: 125,039,938 (GRCm39) |
V514L |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,573 (GRCm39) |
I965M |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,818,021 (GRCm39) |
S1468C |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,116 (GRCm39) |
D652G |
possibly damaging |
Het |
| Apobec3 |
A |
C |
15: 79,791,082 (GRCm39) |
N392T |
|
Het |
| Ccdc33 |
A |
T |
9: 57,965,549 (GRCm39) |
M591K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,870,153 (GRCm39) |
E689G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,227 (GRCm39) |
M250K |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,975 (GRCm39) |
S344R |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,160,142 (GRCm39) |
Y57F |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,189,255 (GRCm39) |
I1540V |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,004,071 (GRCm39) |
Q3651H |
possibly damaging |
Het |
| Eif2a |
A |
G |
3: 58,447,009 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,511 (GRCm39) |
N331S |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,774 (GRCm39) |
P168S |
probably damaging |
Het |
| Fam76b |
A |
T |
9: 13,751,012 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,612 (GRCm39) |
E1356G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,201,523 (GRCm39) |
T517I |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,611 (GRCm39) |
C269R |
probably benign |
Het |
| Gm3404 |
C |
T |
5: 146,462,756 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,345,248 (GRCm39) |
F435S |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,295,490 (GRCm39) |
Y191N |
|
Het |
| Ide |
T |
C |
19: 37,307,801 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,420 (GRCm39) |
T90S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,410 (GRCm39) |
C311R |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,922 (GRCm39) |
E390G |
unknown |
Het |
| Ints1 |
C |
T |
5: 139,750,469 (GRCm39) |
C896Y |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,736 (GRCm39) |
E289G |
probably benign |
Het |
| Kbtbd2 |
G |
A |
6: 56,755,997 (GRCm39) |
R580W |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,099,445 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,579,812 (GRCm39) |
I429L |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,567,292 (GRCm39) |
D431G |
possibly damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,539 (GRCm39) |
Y110N |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,135 (GRCm39) |
A1398T |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,973 (GRCm39) |
M358K |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,141,982 (GRCm39) |
L354R |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,458 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or5g25 |
G |
A |
2: 85,478,504 (GRCm39) |
R54* |
probably null |
Het |
| Or7e173 |
A |
C |
9: 19,938,639 (GRCm39) |
S198R |
probably benign |
Het |
| Otof |
A |
G |
5: 30,528,894 (GRCm39) |
F1838S |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,675,533 (GRCm39) |
T1071I |
possibly damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,794 (GRCm39) |
D342G |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,585 (GRCm39) |
L585P |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,114,505 (GRCm39) |
S469R |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,197,314 (GRCm39) |
F87L |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,145 (GRCm39) |
M152L |
probably benign |
Het |
| Rasa1 |
C |
T |
13: 85,436,732 (GRCm39) |
A99T |
unknown |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,132 (GRCm39) |
N760S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,669,898 (GRCm39) |
M232K |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,389 (GRCm39) |
H744Y |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,282,325 (GRCm39) |
S50P |
probably damaging |
Het |
| Slc25a36 |
A |
C |
9: 96,982,233 (GRCm39) |
L34R |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,401,003 (GRCm39) |
I127F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,939,978 (GRCm39) |
L175P |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,771 (GRCm39) |
T73A |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,680,268 (GRCm39) |
|
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,077,309 (GRCm39) |
E819V |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,290,809 (GRCm39) |
A181T |
probably benign |
Het |
| Trbj1-1 |
A |
G |
6: 41,510,830 (GRCm39) |
R11G |
|
Het |
| Ubash3b |
A |
C |
9: 41,072,877 (GRCm39) |
I12S |
unknown |
Het |
| Usp37 |
T |
C |
1: 74,489,699 (GRCm39) |
K828E |
probably damaging |
Het |
| Usp8 |
G |
C |
2: 126,561,944 (GRCm39) |
S46T |
unknown |
Het |
| Zfp418 |
A |
G |
7: 7,184,408 (GRCm39) |
T124A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,803 (GRCm39) |
T92A |
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 |
|
R9110:Mpeg1
|
UTSW |
19 |
12,440,014 (GRCm39) |
missense |
probably benign |
|
|
X0064:Mpeg1
|
UTSW |
19 |
12,439,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACACTCACCCAGGATGC -3'
(R):5'- CCTCCAAAGAGAAGTCCTGAG -3'
Sequencing Primer
(F):5'- GGATGCACAAATGTTGATTCCCC -3'
(R):5'- CTCCAAAGAGAAGTCCTGAGTTGTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation