Incidental Mutation 'R0104:Mcpt1'
| ID |
17866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcpt1
|
| Ensembl Gene |
ENSMUSG00000022227 |
| Gene Name |
mast cell protease 1 |
| Synonyms |
Mcp-1 |
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56255428-56257841 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56256888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 142
(M142K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022836]
|
| AlphaFold |
P11034 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022836
AA Change: M142K
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022836
Gene: ENSMUSG00000022227
AA Change: M142K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
239 |
1.01e-84 |
SMART |
|
| Meta Mutation Damage Score |
0.1769 |
| Coding Region Coverage |
- 1x: 75.5%
- 3x: 52.6%
- 10x: 7.5%
- 20x: 3.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display an increased succeptibility to parasitic infections which cause increased numbers of intestinal mucosal mast cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,469 (GRCm39) |
A28S |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,563,500 (GRCm39) |
D157V |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,864,514 (GRCm39) |
H142N |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,572 (GRCm39) |
M525K |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm14129 |
T |
C |
2: 148,773,493 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,088 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,401,663 (GRCm39) |
V880D |
probably benign |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Nmrk1 |
T |
A |
19: 18,618,582 (GRCm39) |
S88R |
probably benign |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,261 (GRCm39) |
S265G |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,619 (GRCm39) |
I109N |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,594,997 (GRCm39) |
L156F |
possibly damaging |
Het |
| Slc22a21 |
A |
C |
11: 53,842,635 (GRCm39) |
M498R |
probably null |
Het |
| Ssc5d |
T |
C |
7: 4,939,285 (GRCm39) |
S574P |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,258 (GRCm39) |
I266F |
possibly damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,480 (GRCm39) |
H75Y |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,457,525 (GRCm39) |
K53E |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,251,192 (GRCm39) |
M1261K |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Mcpt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1458:Mcpt1
|
UTSW |
14 |
56,256,621 (GRCm39) |
splice site |
probably benign |
|
|
R1473:Mcpt1
|
UTSW |
14 |
56,256,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1939:Mcpt1
|
UTSW |
14 |
56,256,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2907:Mcpt1
|
UTSW |
14 |
56,257,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3966:Mcpt1
|
UTSW |
14 |
56,256,503 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4235:Mcpt1
|
UTSW |
14 |
56,256,017 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4594:Mcpt1
|
UTSW |
14 |
56,256,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Mcpt1
|
UTSW |
14 |
56,256,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Mcpt1
|
UTSW |
14 |
56,257,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Mcpt1
|
UTSW |
14 |
56,256,072 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5888:Mcpt1
|
UTSW |
14 |
56,256,969 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6925:Mcpt1
|
UTSW |
14 |
56,256,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Mcpt1
|
UTSW |
14 |
56,256,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8712:Mcpt1
|
UTSW |
14 |
56,256,170 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8885:Mcpt1
|
UTSW |
14 |
56,256,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Mcpt1
|
UTSW |
14 |
56,257,520 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9307:Mcpt1
|
UTSW |
14 |
56,256,867 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2013-03-25 |
Incidental Mutation