Incidental Mutation 'R5725:Mpeg1'
| ID |
452467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
043343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5725 (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 12440000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 486
(V486A)
|
| 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: V486A
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: V486A
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
| 6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
| Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
| Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
| Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
| Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
| Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
| Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
| Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
| Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly 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 |
|
R5490:Mpeg1
|
UTSW |
19 |
12,439,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACCTGGAGCAGAAGAACCTG -3'
(R):5'- AAGGGGTTCCCCATTATACAAC -3'
Sequencing Primer
(F):5'- TGCTCTCCCAGACCCATGAAG -3'
(R):5'- GGGTTCCCCATTATACAACTGAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation