Incidental Mutation 'R8755:Mpeg1'
| ID |
664143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpeg1
|
| Ensembl Gene |
ENSMUSG00000046805 |
| Gene Name |
macrophage expressed gene 1 |
| Synonyms |
MPS1, Perforin-2, Mpg-1 |
| MMRRC Submission |
068596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R8755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12438143-12442647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12439238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 232
(F232S)
|
| 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: F232S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: F232S
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,255,520 (GRCm39) |
D86E |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,843,130 (GRCm39) |
D583G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,598,556 (GRCm39) |
D1127E |
probably benign |
Het |
| Anks4b |
T |
A |
7: 119,773,307 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
T |
8: 71,935,724 (GRCm39) |
F298Y |
probably benign |
Het |
| Arhgef2 |
C |
A |
3: 88,536,850 (GRCm39) |
Q7K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,890 (GRCm39) |
I1868V |
probably benign |
Het |
| Cand2 |
T |
C |
6: 115,769,941 (GRCm39) |
L917P |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,238,083 (GRCm39) |
D44G |
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,435 (GRCm39) |
N224S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,114,064 (GRCm39) |
E336G |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,866,069 (GRCm39) |
M2792T |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,886,957 (GRCm39) |
K143* |
probably null |
Het |
| Cyth1 |
T |
A |
11: 118,074,768 (GRCm39) |
M178L |
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,798,023 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,967,225 (GRCm39) |
W1203G |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,133 (GRCm39) |
S141T |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,786,895 (GRCm39) |
S725P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,120 (GRCm39) |
D49E |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,086 (GRCm39) |
D647E |
unknown |
Het |
| Gstp1 |
T |
C |
19: 4,086,698 (GRCm39) |
Y109C |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,468,031 (GRCm39) |
E202G |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 14,985,563 (GRCm39) |
F698L |
probably benign |
Het |
| Hephl1 |
G |
T |
9: 15,023,280 (GRCm39) |
P41T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,509,371 (GRCm39) |
E3659V |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,765,988 (GRCm39) |
D229E |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,103,369 (GRCm39) |
D706V |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,133,926 (GRCm39) |
C1893S |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Laptm4b |
A |
G |
15: 34,273,420 (GRCm39) |
D111G |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,299,256 (GRCm39) |
S123C |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,345 (GRCm39) |
E121K |
possibly damaging |
Het |
| Mmp13 |
T |
A |
9: 7,277,996 (GRCm39) |
S296R |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,148,817 (GRCm39) |
C990S |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,279 (GRCm39) |
C758S |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,192 (GRCm39) |
D485V |
probably damaging |
Het |
| Or13a21 |
T |
G |
7: 139,999,417 (GRCm39) |
S90R |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,332 (GRCm39) |
F79L |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,786 (GRCm39) |
I225N |
probably damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,108 (GRCm39) |
R122Q |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,812,212 (GRCm39) |
I107F |
probably damaging |
Het |
| Pid1 |
G |
T |
1: 84,016,066 (GRCm39) |
H114N |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,703,807 (GRCm39) |
T710A |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,165 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
G |
7: 107,343,432 (GRCm39) |
F824V |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg17 |
T |
A |
7: 18,550,836 (GRCm39) |
T340S |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,961,133 (GRCm39) |
S239P |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,166,036 (GRCm39) |
S383A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,300,969 (GRCm39) |
L613* |
probably null |
Het |
| Rgs11 |
T |
C |
17: 26,422,346 (GRCm39) |
V49A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,791,693 (GRCm39) |
V1404I |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Slc22a13 |
T |
A |
9: 119,038,126 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,316,526 (GRCm39) |
I591L |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,733 (GRCm39) |
V46E |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,194,039 (GRCm39) |
G132S |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,408,851 (GRCm39) |
R724* |
probably null |
Het |
| Tmco3 |
A |
T |
8: 13,341,782 (GRCm39) |
I19L |
probably benign |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tpm1 |
A |
T |
9: 66,935,371 (GRCm39) |
L248Q |
probably benign |
Het |
| Tprn |
T |
A |
2: 25,154,027 (GRCm39) |
I443N |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,651,290 (GRCm39) |
H1545L |
possibly damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,104 (GRCm39) |
M786K |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,645 (GRCm39) |
V63M |
probably damaging |
Het |
| Zcchc4 |
G |
A |
5: 52,976,724 (GRCm39) |
R506H |
unknown |
Het |
| Zfand6 |
A |
T |
7: 84,281,899 (GRCm39) |
V110E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,381 (GRCm39) |
Y80N |
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 |
|
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 |
|
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'- CAGAGCTCAGCTTGGGGTTTAC -3'
(R):5'- TTAGTGATGCCCTTCTGCCAG -3'
Sequencing Primer
(F):5'- CTTGGGGTTTACGAAGGCAC -3'
(R):5'- CCAGGTTTCTAAGGTGATGCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation