Incidental Mutation 'R4079:Mpeg1'
| ID |
316785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Mpg-1 |
| MMRRC Submission |
040976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12460779-12465284 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12462270 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 364
(N364S)
|
| 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: N364S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: N364S
| 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 |
0.7110 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
C |
G |
4: 126,353,680 (GRCm38) |
|
probably null |
Het |
| Ankfy1 |
C |
A |
11: 72,690,009 (GRCm38) |
|
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,813,378 (GRCm38) |
N121K |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,975,292 (GRCm38) |
M1131V |
probably damaging |
Het |
| Arl5c |
A |
T |
11: 97,993,501 (GRCm38) |
I88N |
probably damaging |
Het |
| Armc9 |
A |
T |
1: 86,213,129 (GRCm38) |
|
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,973,760 (GRCm38) |
E573G |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,986,479 (GRCm38) |
T817A |
probably benign |
Het |
| C3 |
C |
T |
17: 57,205,303 (GRCm38) |
D1542N |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,341,669 (GRCm38) |
V293A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 122,647,695 (GRCm38) |
|
probably null |
Het |
| Ccdc18 |
C |
T |
5: 108,158,528 (GRCm38) |
Q270* |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,811,360 (GRCm38) |
V19D |
probably damaging |
Het |
| Cfap57 |
C |
A |
4: 118,598,997 (GRCm38) |
S500I |
probably benign |
Het |
| Cnga3 |
A |
T |
1: 37,241,865 (GRCm38) |
Q47L |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,503,883 (GRCm38) |
D89G |
probably benign |
Het |
| Cox16 |
A |
T |
12: 81,474,335 (GRCm38) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,307,366 (GRCm38) |
N50S |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,853,583 (GRCm38) |
E1116D |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,148,260 (GRCm38) |
D1535G |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,669,007 (GRCm38) |
|
probably null |
Het |
| F13b |
T |
A |
1: 139,501,770 (GRCm38) |
F9I |
unknown |
Het |
| Fcer1a |
C |
T |
1: 173,225,353 (GRCm38) |
C36Y |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,755,612 (GRCm38) |
V318A |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,249,636 (GRCm38) |
V465A |
probably benign |
Het |
| Gm10354 |
A |
T |
5: 14,977,649 (GRCm38) |
L71Q |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,352,602 (GRCm38) |
V493A |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,483,048 (GRCm38) |
S723T |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,726,875 (GRCm38) |
R517Q |
probably damaging |
Het |
| Kpna7 |
A |
G |
5: 145,005,927 (GRCm38) |
I83T |
possibly damaging |
Het |
| Llgl1 |
C |
A |
11: 60,710,284 (GRCm38) |
|
probably null |
Het |
| Lrig3 |
A |
C |
10: 126,009,787 (GRCm38) |
E695A |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,096,037 (GRCm38) |
I261T |
possibly damaging |
Het |
| Mfn1 |
T |
G |
3: 32,542,849 (GRCm38) |
L152W |
probably damaging |
Het |
| Mog |
A |
G |
17: 37,012,410 (GRCm38) |
F212S |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,491,057 (GRCm38) |
R531Q |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,556,036 (GRCm38) |
N443S |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,079,491 (GRCm38) |
Y323H |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,309,878 (GRCm38) |
D305N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,038,363 (GRCm38) |
V6145A |
probably benign |
Het |
| Olfr1037 |
A |
G |
2: 86,085,312 (GRCm38) |
V155A |
possibly damaging |
Het |
| Olfr686 |
A |
T |
7: 105,204,021 (GRCm38) |
H107Q |
probably damaging |
Het |
| Patl1 |
C |
T |
19: 11,931,630 (GRCm38) |
A467V |
probably damaging |
Het |
| Pdss2 |
A |
T |
10: 43,402,522 (GRCm38) |
M342L |
probably benign |
Het |
| Phax |
A |
G |
18: 56,575,979 (GRCm38) |
N183S |
possibly damaging |
Het |
| Pnck |
A |
T |
X: 73,658,155 (GRCm38) |
V93E |
probably damaging |
Het |
| Prol1 |
A |
G |
5: 88,328,216 (GRCm38) |
N155S |
unknown |
Het |
| Ptprk |
G |
A |
10: 28,263,512 (GRCm38) |
V78I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,798,710 (GRCm38) |
|
probably null |
Het |
| Ptprv |
A |
G |
1: 135,110,430 (GRCm38) |
|
noncoding transcript |
Het |
| Ranbp3l |
A |
G |
15: 9,060,757 (GRCm38) |
N233S |
probably damaging |
Het |
| Rapgefl1 |
A |
G |
11: 98,849,977 (GRCm38) |
T552A |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,285,029 (GRCm38) |
S693P |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,640,596 (GRCm38) |
M889K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,119,675 (GRCm38) |
Q320* |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,200,623 (GRCm38) |
N733I |
possibly damaging |
Het |
| Snap47 |
C |
T |
11: 59,428,551 (GRCm38) |
V254I |
probably benign |
Het |
| St6galnac2 |
A |
T |
11: 116,681,898 (GRCm38) |
L244Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,779,896 (GRCm38) |
L83F |
probably damaging |
Het |
| Tjp2 |
A |
T |
19: 24,108,818 (GRCm38) |
V780E |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 73,995,308 (GRCm38) |
R192C |
probably damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,430,080 (GRCm38) |
L3P |
possibly damaging |
Het |
| Ung |
G |
T |
5: 114,130,623 (GRCm38) |
|
probably null |
Het |
| Usp32 |
T |
A |
11: 85,039,229 (GRCm38) |
Y574F |
probably damaging |
Het |
|
| Other mutations in Mpeg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Mpeg1
|
APN |
19 |
12,462,710 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL00902:Mpeg1
|
APN |
19 |
12,461,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01141:Mpeg1
|
APN |
19 |
12,462,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02037:Mpeg1
|
APN |
19 |
12,463,296 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02447:Mpeg1
|
APN |
19 |
12,462,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02448:Mpeg1
|
APN |
19 |
12,462,609 (GRCm38) |
missense |
probably benign |
|
|
IGL02510:Mpeg1
|
APN |
19 |
12,461,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03068:Mpeg1
|
APN |
19 |
12,462,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
avoirdupois
|
UTSW |
19 |
12,463,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Mpeg1
|
UTSW |
19 |
12,461,223 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0310:Mpeg1
|
UTSW |
19 |
12,461,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0312:Mpeg1
|
UTSW |
19 |
12,462,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0522:Mpeg1
|
UTSW |
19 |
12,461,759 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1356:Mpeg1
|
UTSW |
19 |
12,461,325 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1396:Mpeg1
|
UTSW |
19 |
12,462,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1436:Mpeg1
|
UTSW |
19 |
12,462,459 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1497:Mpeg1
|
UTSW |
19 |
12,461,247 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1714:Mpeg1
|
UTSW |
19 |
12,462,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1846:Mpeg1
|
UTSW |
19 |
12,463,122 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1856:Mpeg1
|
UTSW |
19 |
12,462,356 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1933:Mpeg1
|
UTSW |
19 |
12,462,647 (GRCm38) |
nonsense |
probably null |
|
|
R1959:Mpeg1
|
UTSW |
19 |
12,462,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1960:Mpeg1
|
UTSW |
19 |
12,462,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1961:Mpeg1
|
UTSW |
19 |
12,462,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2240:Mpeg1
|
UTSW |
19 |
12,463,038 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2474:Mpeg1
|
UTSW |
19 |
12,462,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3430:Mpeg1
|
UTSW |
19 |
12,463,128 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4245:Mpeg1
|
UTSW |
19 |
12,462,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4451:Mpeg1
|
UTSW |
19 |
12,463,232 (GRCm38) |
nonsense |
probably null |
|
|
R4888:Mpeg1
|
UTSW |
19 |
12,463,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4980:Mpeg1
|
UTSW |
19 |
12,461,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5071:Mpeg1
|
UTSW |
19 |
12,461,181 (GRCm38) |
start codon destroyed |
probably null |
0.02 |
|
R5089:Mpeg1
|
UTSW |
19 |
12,462,997 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5120:Mpeg1
|
UTSW |
19 |
12,461,429 (GRCm38) |
nonsense |
probably null |
|
|
R5327:Mpeg1
|
UTSW |
19 |
12,461,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5490:Mpeg1
|
UTSW |
19 |
12,461,693 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5725:Mpeg1
|
UTSW |
19 |
12,462,636 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6147:Mpeg1
|
UTSW |
19 |
12,462,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6243:Mpeg1
|
UTSW |
19 |
12,462,240 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6486:Mpeg1
|
UTSW |
19 |
12,462,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6520:Mpeg1
|
UTSW |
19 |
12,461,958 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7139:Mpeg1
|
UTSW |
19 |
12,461,714 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7204:Mpeg1
|
UTSW |
19 |
12,462,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7310:Mpeg1
|
UTSW |
19 |
12,462,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7665:Mpeg1
|
UTSW |
19 |
12,463,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7674:Mpeg1
|
UTSW |
19 |
12,461,387 (GRCm38) |
missense |
probably benign |
|
|
R8388:Mpeg1
|
UTSW |
19 |
12,462,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8749:Mpeg1
|
UTSW |
19 |
12,461,927 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8755:Mpeg1
|
UTSW |
19 |
12,461,874 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8773:Mpeg1
|
UTSW |
19 |
12,463,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8808:Mpeg1
|
UTSW |
19 |
12,463,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9037:Mpeg1
|
UTSW |
19 |
12,461,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9110:Mpeg1
|
UTSW |
19 |
12,462,650 (GRCm38) |
missense |
probably benign |
|
|
R9280:Mpeg1
|
UTSW |
19 |
12,462,464 (GRCm38) |
missense |
probably benign |
0.07 |
|
X0064:Mpeg1
|
UTSW |
19 |
12,461,972 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGCAATAGACCGTGCTG -3'
(R):5'- TTTACATTCCAGACGACTGTAACCC -3'
Sequencing Primer
(F):5'- CAATAGACCGTGCTGGCTTG -3'
(R):5'- AGACGACTGTAACCCTCTTCATGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation