Incidental Mutation 'R3004:Ctsm'
| ID |
257399 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
61683557-61689653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61687682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 59
(I59V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000099451
AA Change: I59V
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: I59V
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
29 |
88 |
4.63e-24 |
SMART |
|
Pept_C1
|
114 |
332 |
2.05e-105 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223778
AA Change: I59V
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225965
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,753,103 (GRCm39) |
W1553* |
probably null |
Het |
| Art2a |
T |
C |
7: 101,203,972 (GRCm39) |
I189V |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,790 (GRCm39) |
E10G |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,796,929 (GRCm39) |
L469P |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,688 (GRCm39) |
F131S |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,767,682 (GRCm39) |
F970L |
probably damaging |
Het |
| Gm21903 |
A |
T |
17: 39,353,547 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2bc7 |
G |
A |
13: 23,758,355 (GRCm39) |
|
probably benign |
Het |
| Hoxd10 |
T |
A |
2: 74,522,706 (GRCm39) |
V128D |
probably benign |
Het |
| Ighv5-9 |
T |
C |
12: 113,625,567 (GRCm39) |
T59A |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,330,311 (GRCm39) |
F947L |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,221 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,151 (GRCm39) |
H284N |
probably benign |
Het |
| Piezo2 |
G |
T |
18: 63,157,506 (GRCm39) |
Y223* |
probably null |
Het |
| Rhog |
A |
T |
7: 101,889,345 (GRCm39) |
V36E |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,771 (GRCm39) |
T1168I |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,004,118 (GRCm39) |
L290* |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,478,380 (GRCm39) |
A48S |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,590 (GRCm39) |
S715R |
possibly damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,840 (GRCm39) |
E120G |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACTGGGATTTCAATCATCAC -3'
(R):5'- GTCAGGATCTCTGTTCCTAGAC -3'
Sequencing Primer
(F):5'- GACTGGGATTTCAATCATCACTTTCC -3'
(R):5'- AGGATCTCTGTTCCTAGACATGTGAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation