Incidental Mutation 'IGL01460:Ctsm'
| ID |
87956 |
| 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 # |
IGL01460
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61683557-61689653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61686850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 14
(Q14R)
|
| 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 damaging
Transcript: ENSMUST00000099451
AA Change: Q164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: Q164R
| 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 damaging
Transcript: ENSMUST00000223778
AA Change: Q164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225268
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225902
AA Change: Q14R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,397,594 (GRCm39) |
V2608A |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,055,856 (GRCm39) |
K1250R |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,178,864 (GRCm39) |
N846D |
possibly damaging |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Itgb3 |
C |
T |
11: 104,553,220 (GRCm39) |
Q693* |
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,208,289 (GRCm39) |
V42M |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,944 (GRCm39) |
H448R |
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,714,194 (GRCm39) |
E120V |
probably benign |
Het |
| Or12k5 |
A |
C |
2: 36,894,648 (GRCm39) |
M326R |
probably benign |
Het |
| Or9a2 |
A |
C |
6: 41,749,216 (GRCm39) |
S6A |
probably benign |
Het |
| Peli1 |
C |
T |
11: 21,096,966 (GRCm39) |
P119S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,284,790 (GRCm39) |
V1026A |
unknown |
Het |
| Pi4ka |
A |
G |
16: 17,175,515 (GRCm39) |
F438L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,282,579 (GRCm39) |
|
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,608,245 (GRCm39) |
L548P |
possibly damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,318,835 (GRCm39) |
A101T |
probably benign |
Het |
| Vcp |
C |
A |
4: 42,996,040 (GRCm39) |
R53L |
possibly damaging |
Het |
|
| Other mutations in Ctsm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Ctsm
|
APN |
13 |
61,686,883 (GRCm39) |
missense |
probably benign |
0.08 |
|
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