Incidental Mutation 'IGL02709:Ctsc'
ID |
304493 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctsc
|
Ensembl Gene |
ENSMUSG00000030560 |
Gene Name |
cathepsin C |
Synonyms |
dipeptidylpeptidase 1, DPPI, DPP1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02709
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
87927293-87960096 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87957347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 294
(A294V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032779]
[ENSMUST00000128791]
|
AlphaFold |
P97821 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032779
AA Change: A294V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032779 Gene: ENSMUSG00000030560 AA Change: A294V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:CathepsinC_exc
|
25 |
141 |
1.5e-48 |
PFAM |
Pept_C1
|
230 |
457 |
1.05e-79 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128791
|
SMART Domains |
Protein: ENSMUSP00000119503 Gene: ENSMUSG00000030560
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:CathepsinC_exc
|
25 |
141 |
7.1e-62 |
PFAM |
SCOP:d3gcb__
|
144 |
254 |
4e-8 |
SMART |
Blast:Pept_C1
|
229 |
254 |
4e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208302
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the dipeptidyl peptidase 1 light, heavy, and exclusion domain chains, which together comprise one subunit of the homotetrameric enzyme. This enzyme has amino dipeptidase activity and may play a role in the activation of granzymes during inflammation. Homozygous knockout mice for this gene exhibit impaired granzyme activation and enhanced survival in a sepsis model. [provided by RefSeq, Aug 2015] PHENOTYPE: Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,654,619 (GRCm39) |
Y151C |
probably damaging |
Het |
Aco1 |
G |
A |
4: 40,180,199 (GRCm39) |
V367M |
possibly damaging |
Het |
Acsm5 |
G |
A |
7: 119,134,041 (GRCm39) |
W274* |
probably null |
Het |
Ago1 |
G |
A |
4: 126,347,433 (GRCm39) |
Q135* |
probably null |
Het |
Bmpr1b |
A |
T |
3: 141,562,314 (GRCm39) |
L291Q |
probably damaging |
Het |
Cdcp1 |
A |
G |
9: 123,002,879 (GRCm39) |
Y731H |
probably damaging |
Het |
Clrn2 |
A |
G |
5: 45,617,495 (GRCm39) |
N122S |
probably damaging |
Het |
Col4a3 |
G |
T |
1: 82,656,833 (GRCm39) |
G751W |
unknown |
Het |
Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
Dennd6b |
A |
T |
15: 89,075,125 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,850,809 (GRCm39) |
Y1659* |
probably null |
Het |
Dspp |
A |
C |
5: 104,325,116 (GRCm39) |
D493A |
unknown |
Het |
Dyrk1a |
C |
T |
16: 94,486,102 (GRCm39) |
A445V |
probably benign |
Het |
E030025P04Rik |
C |
A |
11: 109,030,324 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,872,699 (GRCm39) |
S201P |
possibly damaging |
Het |
Foxd4 |
T |
C |
19: 24,876,973 (GRCm39) |
H409R |
probably damaging |
Het |
Fubp3 |
A |
G |
2: 31,485,343 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
G |
9: 66,404,962 (GRCm39) |
K4511E |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Map1lc3b |
T |
A |
8: 122,322,768 (GRCm39) |
L82Q |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,578,877 (GRCm39) |
S844T |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,044,888 (GRCm39) |
*85K |
probably null |
Het |
Memo1 |
G |
A |
17: 74,552,027 (GRCm39) |
L90F |
probably damaging |
Het |
Mfrp |
A |
G |
9: 44,014,561 (GRCm39) |
H236R |
probably benign |
Het |
Mmrn1 |
G |
A |
6: 60,950,030 (GRCm39) |
D327N |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,392,697 (GRCm39) |
E3178G |
probably damaging |
Het |
Pcsk9 |
A |
G |
4: 106,304,886 (GRCm39) |
|
probably benign |
Het |
Pros1 |
T |
C |
16: 62,719,308 (GRCm39) |
L110P |
probably damaging |
Het |
Reck |
A |
G |
4: 43,913,791 (GRCm39) |
Y215C |
probably damaging |
Het |
Ripk4 |
T |
C |
16: 97,544,766 (GRCm39) |
D627G |
probably damaging |
Het |
Rnf144a |
G |
T |
12: 26,371,009 (GRCm39) |
H151N |
probably damaging |
Het |
Slc39a9 |
T |
A |
12: 80,713,421 (GRCm39) |
H106Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,682,029 (GRCm39) |
|
probably benign |
Het |
Sympk |
T |
G |
7: 18,781,463 (GRCm39) |
H806Q |
probably benign |
Het |
Tars2 |
C |
A |
3: 95,649,383 (GRCm39) |
|
probably benign |
Het |
Thap3 |
T |
A |
4: 152,070,169 (GRCm39) |
H75L |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,970,235 (GRCm39) |
I918M |
possibly damaging |
Het |
Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
Ubqln3 |
T |
G |
7: 103,790,543 (GRCm39) |
T516P |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,466,238 (GRCm39) |
S1810P |
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,524 (GRCm39) |
Y9* |
probably null |
Het |
Vmn1r89 |
T |
A |
7: 12,954,131 (GRCm39) |
M221K |
probably damaging |
Het |
Vmn2r1 |
G |
T |
3: 64,012,355 (GRCm39) |
V739F |
probably benign |
Het |
Vmn2r25 |
C |
T |
6: 123,816,723 (GRCm39) |
R286Q |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,325,711 (GRCm39) |
Y110N |
possibly damaging |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
|
Other mutations in Ctsc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Ctsc
|
APN |
7 |
87,951,479 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03103:Ctsc
|
APN |
7 |
87,959,013 (GRCm39) |
missense |
probably benign |
|
IGL03117:Ctsc
|
APN |
7 |
87,958,988 (GRCm39) |
missense |
probably damaging |
0.99 |
R0071:Ctsc
|
UTSW |
7 |
87,957,357 (GRCm39) |
unclassified |
probably benign |
|
R0334:Ctsc
|
UTSW |
7 |
87,927,550 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0587:Ctsc
|
UTSW |
7 |
87,946,437 (GRCm39) |
missense |
probably benign |
0.35 |
R1006:Ctsc
|
UTSW |
7 |
87,959,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Ctsc
|
UTSW |
7 |
87,930,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1472:Ctsc
|
UTSW |
7 |
87,930,670 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1602:Ctsc
|
UTSW |
7 |
87,927,512 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1650:Ctsc
|
UTSW |
7 |
87,930,634 (GRCm39) |
nonsense |
probably null |
|
R1656:Ctsc
|
UTSW |
7 |
87,930,616 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1808:Ctsc
|
UTSW |
7 |
87,948,750 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3848:Ctsc
|
UTSW |
7 |
87,958,818 (GRCm39) |
missense |
probably benign |
0.01 |
R4154:Ctsc
|
UTSW |
7 |
87,948,755 (GRCm39) |
missense |
probably benign |
0.01 |
R4614:Ctsc
|
UTSW |
7 |
87,927,583 (GRCm39) |
critical splice donor site |
probably null |
|
R5313:Ctsc
|
UTSW |
7 |
87,958,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Ctsc
|
UTSW |
7 |
87,951,486 (GRCm39) |
nonsense |
probably null |
|
R6949:Ctsc
|
UTSW |
7 |
87,930,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Ctsc
|
UTSW |
7 |
87,946,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R7244:Ctsc
|
UTSW |
7 |
87,951,430 (GRCm39) |
missense |
probably benign |
|
R7254:Ctsc
|
UTSW |
7 |
87,958,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R7732:Ctsc
|
UTSW |
7 |
87,946,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R8157:Ctsc
|
UTSW |
7 |
87,951,416 (GRCm39) |
missense |
probably benign |
0.01 |
R8331:Ctsc
|
UTSW |
7 |
87,946,328 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8392:Ctsc
|
UTSW |
7 |
87,946,451 (GRCm39) |
missense |
probably benign |
0.00 |
R8971:Ctsc
|
UTSW |
7 |
87,959,024 (GRCm39) |
missense |
probably benign |
0.00 |
R9005:Ctsc
|
UTSW |
7 |
87,927,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R9113:Ctsc
|
UTSW |
7 |
87,959,104 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9131:Ctsc
|
UTSW |
7 |
87,959,016 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |