Incidental Mutation 'IGL03200:Mcpt9'
| ID |
412944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcpt9
|
| Ensembl Gene |
ENSMUSG00000071361 |
| Gene Name |
mast cell protease 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56264321-56267952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56264390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 235
(H235L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095798]
|
| AlphaFold |
O35164 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095798
AA Change: H235L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000093476
Gene: ENSMUSG00000071361
AA Change: H235L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
239 |
1.18e-80 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,928,989 (GRCm39) |
|
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,107,256 (GRCm39) |
M1K |
probably null |
Het |
| Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,124,908 (GRCm39) |
G275E |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,196,010 (GRCm39) |
V647I |
probably benign |
Het |
| Kcnip2 |
T |
G |
19: 45,782,502 (GRCm39) |
K190Q |
probably damaging |
Het |
| Mbd1 |
T |
G |
18: 74,409,502 (GRCm39) |
S251A |
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,832,611 (GRCm39) |
I573N |
possibly damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,591 (GRCm39) |
P229L |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,823,395 (GRCm39) |
I441T |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,208,711 (GRCm39) |
V413D |
possibly damaging |
Het |
| Sulf1 |
C |
T |
1: 12,856,841 (GRCm39) |
R31* |
probably null |
Het |
| Taok1 |
G |
A |
11: 77,466,478 (GRCm39) |
Q124* |
probably null |
Het |
| Tmem140 |
A |
G |
6: 34,849,814 (GRCm39) |
E110G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,373,444 (GRCm39) |
R242* |
probably null |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp456 |
C |
T |
13: 67,514,596 (GRCm39) |
R370H |
probably benign |
Het |
|
| Other mutations in Mcpt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02947:Mcpt9
|
APN |
14 |
56,264,373 (GRCm39) |
nonsense |
probably null |
|
|
IGL03218:Mcpt9
|
APN |
14 |
56,264,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Mcpt9
|
APN |
14 |
56,265,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Mcpt9
|
UTSW |
14 |
56,266,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0196:Mcpt9
|
UTSW |
14 |
56,265,453 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1218:Mcpt9
|
UTSW |
14 |
56,266,125 (GRCm39) |
nonsense |
probably null |
|
|
R1489:Mcpt9
|
UTSW |
14 |
56,264,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1962:Mcpt9
|
UTSW |
14 |
56,265,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2232:Mcpt9
|
UTSW |
14 |
56,265,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3911:Mcpt9
|
UTSW |
14 |
56,265,136 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4441:Mcpt9
|
UTSW |
14 |
56,265,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Mcpt9
|
UTSW |
14 |
56,266,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Mcpt9
|
UTSW |
14 |
56,266,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Mcpt9
|
UTSW |
14 |
56,266,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Mcpt9
|
UTSW |
14 |
56,266,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Mcpt9
|
UTSW |
14 |
56,264,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7146:Mcpt9
|
UTSW |
14 |
56,264,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Mcpt9
|
UTSW |
14 |
56,264,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Mcpt9
|
UTSW |
14 |
56,265,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation