Incidental Mutation 'IGL01487:Ctsm'
| ID |
88765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsm
|
| Ensembl Gene |
ENSMUSG00000074871 |
| Gene Name |
cathepsin M |
| Synonyms |
Catm, 1600027J17Rik, Cat M |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61683557-61689653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61686883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 3
(R3L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099451]
[ENSMUST00000223778]
[ENSMUST00000225268]
[ENSMUST00000225902]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099451
AA Change: R153L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: R153L
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
29 |
88 |
4.63e-24 |
SMART |
|
Pept_C1
|
114 |
332 |
2.05e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223778
AA Change: R153L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225902
AA Change: R3L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,816,431 (GRCm39) |
V121A |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,148,538 (GRCm39) |
H17R |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,564,753 (GRCm39) |
Q2626* |
probably null |
Het |
| Dpp3 |
C |
T |
19: 4,963,920 (GRCm39) |
V587I |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,481,638 (GRCm39) |
T245A |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,461,955 (GRCm39) |
|
probably benign |
Het |
| Hoxb9 |
C |
T |
11: 96,165,614 (GRCm39) |
Q228* |
probably null |
Het |
| Invs |
A |
G |
4: 48,398,136 (GRCm39) |
I441V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,149,766 (GRCm39) |
E1243G |
probably benign |
Het |
| Rapgefl1 |
C |
T |
11: 98,737,961 (GRCm39) |
H392Y |
probably damaging |
Het |
| Ropn1 |
T |
C |
16: 34,498,839 (GRCm39) |
V209A |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,206,802 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,391,689 (GRCm39) |
M1T |
probably null |
Het |
| Serpinb11 |
A |
T |
1: 107,307,568 (GRCm39) |
Y333F |
probably benign |
Het |
| Sf3b3 |
A |
G |
8: 111,544,292 (GRCm39) |
Y783H |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,715 (GRCm39) |
M990V |
probably benign |
Het |
| Syt3 |
G |
T |
7: 44,040,423 (GRCm39) |
V219F |
possibly damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,163,443 (GRCm39) |
L647S |
probably benign |
Het |
|
| Other mutations in Ctsm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01460:Ctsm
|
APN |
13 |
61,686,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:Ctsm
|
APN |
13 |
61,688,087 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01746:Ctsm
|
APN |
13 |
61,686,717 (GRCm39) |
splice site |
probably benign |
|
|
IGL01746:Ctsm
|
APN |
13 |
61,687,630 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01908:Ctsm
|
APN |
13 |
61,685,601 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02315:Ctsm
|
APN |
13 |
61,687,462 (GRCm39) |
missense |
probably benign |
|
|
FR4548:Ctsm
|
UTSW |
13 |
61,685,651 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Ctsm
|
UTSW |
13 |
61,685,650 (GRCm39) |
frame shift |
probably null |
|
|
R0613:Ctsm
|
UTSW |
13 |
61,687,496 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1631:Ctsm
|
UTSW |
13 |
61,686,249 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3004:Ctsm
|
UTSW |
13 |
61,687,682 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3741:Ctsm
|
UTSW |
13 |
61,687,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4631:Ctsm
|
UTSW |
13 |
61,685,510 (GRCm39) |
missense |
probably null |
1.00 |
|
R4889:Ctsm
|
UTSW |
13 |
61,686,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Ctsm
|
UTSW |
13 |
61,686,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Ctsm
|
UTSW |
13 |
61,685,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Ctsm
|
UTSW |
13 |
61,687,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Ctsm
|
UTSW |
13 |
61,685,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Ctsm
|
UTSW |
13 |
61,687,463 (GRCm39) |
missense |
probably benign |
|
|
R8696:Ctsm
|
UTSW |
13 |
61,685,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Ctsm
|
UTSW |
13 |
61,685,643 (GRCm39) |
missense |
|
|
|
R9198:Ctsm
|
UTSW |
13 |
61,687,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Ctsm
|
UTSW |
13 |
61,684,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Ctsm
|
UTSW |
13 |
61,686,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation