Incidental Mutation 'IGL00840:Cts8'
ID |
13394 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cts8
|
Ensembl Gene |
ENSMUSG00000057446 |
Gene Name |
cathepsin 8 |
Synonyms |
Epcs68, CTS2, Epcs70 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
IGL00840
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61394561-61403162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61399392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 189
(Y189C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021891]
[ENSMUST00000223988]
|
AlphaFold |
Q9JI81 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021891
AA Change: Y189C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021891 Gene: ENSMUSG00000057446 AA Change: Y189C
Domain | Start | End | E-Value | Type |
Inhibitor_I29
|
29 |
88 |
1.92e-21 |
SMART |
Pept_C1
|
114 |
332 |
2.28e-112 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223988
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
Rgs20 |
C |
T |
1: 5,140,238 (GRCm39) |
V55I |
probably benign |
Het |
Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
Other mutations in Cts8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Cts8
|
APN |
13 |
61,397,010 (GRCm39) |
splice site |
probably benign |
|
IGL01681:Cts8
|
APN |
13 |
61,401,433 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02264:Cts8
|
APN |
13 |
61,398,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Cts8
|
APN |
13 |
61,398,784 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03196:Cts8
|
APN |
13 |
61,401,272 (GRCm39) |
missense |
probably benign |
0.05 |
R0123:Cts8
|
UTSW |
13 |
61,401,391 (GRCm39) |
missense |
probably benign |
0.01 |
R0630:Cts8
|
UTSW |
13 |
61,401,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0856:Cts8
|
UTSW |
13 |
61,398,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R0908:Cts8
|
UTSW |
13 |
61,398,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Cts8
|
UTSW |
13 |
61,401,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R2186:Cts8
|
UTSW |
13 |
61,399,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R3103:Cts8
|
UTSW |
13 |
61,398,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R3772:Cts8
|
UTSW |
13 |
61,398,715 (GRCm39) |
splice site |
probably benign |
|
R5127:Cts8
|
UTSW |
13 |
61,401,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R5432:Cts8
|
UTSW |
13 |
61,398,826 (GRCm39) |
missense |
probably benign |
0.00 |
R6088:Cts8
|
UTSW |
13 |
61,401,780 (GRCm39) |
missense |
probably benign |
0.01 |
R6298:Cts8
|
UTSW |
13 |
61,397,037 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6501:Cts8
|
UTSW |
13 |
61,398,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Cts8
|
UTSW |
13 |
61,399,505 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7571:Cts8
|
UTSW |
13 |
61,395,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Cts8
|
UTSW |
13 |
61,401,882 (GRCm39) |
missense |
probably benign |
0.03 |
R8748:Cts8
|
UTSW |
13 |
61,397,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8917:Cts8
|
UTSW |
13 |
61,396,882 (GRCm39) |
intron |
probably benign |
|
R9083:Cts8
|
UTSW |
13 |
61,397,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9803:Cts8
|
UTSW |
13 |
61,401,136 (GRCm39) |
missense |
possibly damaging |
0.50 |
RF008:Cts8
|
UTSW |
13 |
61,397,102 (GRCm39) |
missense |
probably benign |
|
X0062:Cts8
|
UTSW |
13 |
61,398,822 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Posted On |
2012-12-06 |