Incidental Mutation 'R6443:Ctss'
| ID |
519079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctss
|
| Ensembl Gene |
ENSMUSG00000038642 |
| Gene Name |
cathepsin S |
| Synonyms |
Cat S |
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95434097-95463714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 95454114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 221
(K221T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015667]
[ENSMUST00000116304]
|
| AlphaFold |
O70370 |
| PDB Structure |
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
MOUSE CATHEPSIN S WITH COVALENT LIGAND [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)-1-(PHENYLSULFONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]
Mouse cathepsin s with covalent ligand (3S,4S)-1-[(2-CHLOROPHENYL)SULFONYL]-N-[(2E)-2-IMINOETHYL]-4-(MORPHOLIN-4-YLCARBONYL)PYRROLIDINE-3-CARBOXAMIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015667
AA Change: K222T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000015667
Gene: ENSMUSG00000038642
AA Change: K222T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
39 |
99 |
2.3e-27 |
SMART |
|
Pept_C1
|
126 |
342 |
2.3e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116304
AA Change: K221T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112006
Gene: ENSMUSG00000038642
AA Change: K221T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
36 |
96 |
3.01e-23 |
SMART |
|
Pept_C1
|
123 |
339 |
6.79e-120 |
SMART |
|
| Meta Mutation Damage Score |
0.1864 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, which encode preproproteins that are proteolytically processed to generate mature protein products. This enzyme is secreted by antigen-presenting cells during inflammation and may induce pain and itch via activation of G-protein coupled receptors. Homozygous knockout mice for this gene exhibit impaired wound healing, reduced tumorigenesis in a pancreatic cancer model, and reduced pathogenesis in a myasthenia gravis model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice are resistant to the development of experimental autoimmune myasthenia gravis and showed reduced T and B cell responses to acetylcholine receptor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
probably damaging |
Het |
|
| Other mutations in Ctss |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Ctss
|
APN |
3 |
95,446,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02162:Ctss
|
APN |
3 |
95,454,132 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03026:Ctss
|
APN |
3 |
95,446,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03219:Ctss
|
APN |
3 |
95,450,411 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
clip
|
UTSW |
3 |
95,452,695 (GRCm39) |
nonsense |
probably null |
|
|
R0025:Ctss
|
UTSW |
3 |
95,457,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Ctss
|
UTSW |
3 |
95,457,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Ctss
|
UTSW |
3 |
95,452,888 (GRCm39) |
splice site |
probably benign |
|
|
R0033:Ctss
|
UTSW |
3 |
95,452,888 (GRCm39) |
splice site |
probably benign |
|
|
R1844:Ctss
|
UTSW |
3 |
95,454,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2866:Ctss
|
UTSW |
3 |
95,452,717 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4061:Ctss
|
UTSW |
3 |
95,450,345 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4846:Ctss
|
UTSW |
3 |
95,452,695 (GRCm39) |
nonsense |
probably null |
|
|
R5917:Ctss
|
UTSW |
3 |
95,450,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6555:Ctss
|
UTSW |
3 |
95,450,340 (GRCm39) |
nonsense |
probably null |
|
|
R7391:Ctss
|
UTSW |
3 |
95,436,852 (GRCm39) |
missense |
probably benign |
|
|
R8007:Ctss
|
UTSW |
3 |
95,457,465 (GRCm39) |
missense |
probably null |
1.00 |
|
R9088:Ctss
|
UTSW |
3 |
95,436,867 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9356:Ctss
|
UTSW |
3 |
95,454,120 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9398:Ctss
|
UTSW |
3 |
95,454,258 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9522:Ctss
|
UTSW |
3 |
95,454,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACCCAGGCCACCTTGTC -3'
(R):5'- GCTCAGCCTATATTAAGGGTAGC -3'
Sequencing Primer
(F):5'- CCAGCTTGAGTCAGTGTTTACAAAC -3'
(R):5'- GTAGCAAATAAGAGGCTGATGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation