Incidental Mutation 'R3741:Ctsm'
| ID |
270382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsm
|
| Ensembl Gene |
ENSMUSG00000074871 |
| Gene Name |
cathepsin M |
| Synonyms |
Catm, 1600027J17Rik, Cat M |
| MMRRC Submission |
040727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3741 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61683557-61689653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61687441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 107
(Q107L)
|
| 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: Q107L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000097050
Gene: ENSMUSG00000074871
AA Change: Q107L
| 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: Q107L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225965
|
| Meta Mutation Damage Score |
0.0755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,406,357 (GRCm39) |
V1748A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,489 (GRCm39) |
S1082C |
probably damaging |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,606 (GRCm39) |
M1V |
probably null |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,014 (GRCm39) |
S701P |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,987,424 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,339,295 (GRCm39) |
A3071S |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 33,961,155 (GRCm39) |
|
probably null |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,284,976 (GRCm39) |
Y443C |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,128 (GRCm39) |
I851M |
probably damaging |
Het |
| Lipk |
T |
G |
19: 33,999,107 (GRCm39) |
L134R |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Msrb3 |
A |
T |
10: 120,620,119 (GRCm39) |
F67I |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,550,767 (GRCm39) |
D593G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,064 (GRCm39) |
C311R |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,874,167 (GRCm39) |
D377G |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,556 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,704,885 (GRCm39) |
E570G |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,556 (GRCm39) |
R470G |
possibly damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,069 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
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 |
|
R3004:Ctsm
|
UTSW |
13 |
61,687,682 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
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'- CACAATACTAAGGTAATGGTGGGTG -3'
(R):5'- GGTGACTGTGACACATACAGC -3'
Sequencing Primer
(F):5'- GTGGGTGAAATGATTGATATGCC -3'
(R):5'- GTGACACATACAGCATCACAATGTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation