Incidental Mutation 'IGL00537:Mcpt4'
| ID |
4185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcpt4
|
| Ensembl Gene |
ENSMUSG00000061068 |
| Gene Name |
mast cell protease 4 |
| Synonyms |
Mcp4, myonase, MMCP-4B, Mcp-4, MMCP-4, MMCP-4A |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56297201-56299767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56298487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 83
(T83A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043249]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043249
AA Change: T83A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038103
Gene: ENSMUSG00000061068
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
239 |
6.1e-88 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this locus affects thrombin regulation and fibronectin turnover. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcap29 |
C |
A |
12: 31,667,095 (GRCm39) |
E189* |
probably null |
Het |
| Chd5 |
T |
C |
4: 152,445,059 (GRCm39) |
Y347H |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,000,150 (GRCm39) |
N116K |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,458,848 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,889,591 (GRCm39) |
V185L |
probably benign |
Het |
| Glb1l3 |
T |
A |
9: 26,740,346 (GRCm39) |
Y328F |
probably damaging |
Het |
| Gnao1 |
G |
A |
8: 94,538,308 (GRCm39) |
V50M |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,528,824 (GRCm39) |
Y539C |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,455,388 (GRCm39) |
I4050F |
possibly damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,363,443 (GRCm39) |
T621M |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,383 (GRCm39) |
S304P |
probably benign |
Het |
| Rptor |
C |
T |
11: 119,690,271 (GRCm39) |
P372L |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,294,300 (GRCm39) |
N13K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,657,409 (GRCm39) |
T1787S |
probably benign |
Het |
| Wfdc12 |
A |
T |
2: 164,032,387 (GRCm39) |
L18Q |
probably null |
Het |
| Zfp955b |
T |
C |
17: 33,521,847 (GRCm39) |
F439L |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,783,851 (GRCm39) |
S1125L |
probably benign |
Het |
|
| Other mutations in Mcpt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02733:Mcpt4
|
APN |
14 |
56,298,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0622:Mcpt4
|
UTSW |
14 |
56,298,119 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1699:Mcpt4
|
UTSW |
14 |
56,297,416 (GRCm39) |
makesense |
probably null |
|
|
R4298:Mcpt4
|
UTSW |
14 |
56,298,444 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4413:Mcpt4
|
UTSW |
14 |
56,297,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5191:Mcpt4
|
UTSW |
14 |
56,298,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5378:Mcpt4
|
UTSW |
14 |
56,299,750 (GRCm39) |
splice site |
probably null |
|
|
R6650:Mcpt4
|
UTSW |
14 |
56,298,090 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7062:Mcpt4
|
UTSW |
14 |
56,298,125 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7730:Mcpt4
|
UTSW |
14 |
56,297,428 (GRCm39) |
missense |
probably benign |
|
|
R7809:Mcpt4
|
UTSW |
14 |
56,298,141 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8363:Mcpt4
|
UTSW |
14 |
56,299,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9368:Mcpt4
|
UTSW |
14 |
56,299,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9751:Mcpt4
|
UTSW |
14 |
56,297,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Mcpt4
|
UTSW |
14 |
56,299,729 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
Z1088:Mcpt4
|
UTSW |
14 |
56,297,967 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation