Incidental Mutation 'IGL01647:Ctsm'
ID |
102717 |
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 # |
IGL01647
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61683557-61689653 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61688087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 14
(M14K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153101
(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: M14K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000097050 Gene: ENSMUSG00000074871 AA Change: M14K
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: M14K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225268
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225965
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
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 |
IGL01487:Ctsm
|
APN |
13 |
61,686,883 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
2014-01-21 |