Incidental Mutation 'IGL02264:Cts8'
| ID |
286850 |
| 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 # |
IGL02264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61394561-61403162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61398772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 245
(I245F)
|
| 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: I245F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: I245F
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abhd17b |
T |
C |
19: 21,655,796 (GRCm39) |
L26P |
probably damaging |
Het |
| Abtb1 |
A |
G |
6: 88,813,517 (GRCm39) |
V407A |
probably benign |
Het |
| Adamts17 |
C |
A |
7: 66,697,207 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
G |
T |
2: 20,864,850 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,820,656 (GRCm39) |
D1290G |
probably damaging |
Het |
| Btbd6 |
A |
G |
12: 112,940,589 (GRCm39) |
T49A |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,259,699 (GRCm39) |
V702I |
possibly damaging |
Het |
| Dclre1a |
T |
A |
19: 56,532,725 (GRCm39) |
N623I |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 65,971,314 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,102,775 (GRCm39) |
F978S |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,685,392 (GRCm39) |
V363I |
possibly damaging |
Het |
| Iglc2 |
G |
T |
16: 19,017,397 (GRCm39) |
S69R |
probably damaging |
Het |
| Ints5 |
T |
C |
19: 8,873,076 (GRCm39) |
V345A |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,687,569 (GRCm39) |
R2825G |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,137,794 (GRCm39) |
E2870G |
probably damaging |
Het |
| Or4c125 |
G |
T |
2: 89,170,028 (GRCm39) |
T206K |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,207 (GRCm39) |
T241A |
probably benign |
Het |
| Or5aq7 |
C |
T |
2: 86,937,785 (GRCm39) |
|
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcsk1 |
C |
A |
13: 75,254,078 (GRCm39) |
T210K |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,961,178 (GRCm39) |
A71V |
possibly damaging |
Het |
| Slco5a1 |
A |
G |
1: 12,942,219 (GRCm39) |
V809A |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,144 (GRCm39) |
T1173A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,040,584 (GRCm39) |
I367T |
probably damaging |
Het |
| Tmem169 |
T |
A |
1: 72,340,114 (GRCm39) |
Y181* |
probably null |
Het |
| Trp73 |
G |
T |
4: 154,148,885 (GRCm39) |
F289L |
probably null |
Het |
| Ttll9 |
A |
G |
2: 152,842,055 (GRCm39) |
Y303C |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,182,939 (GRCm39) |
E3577* |
probably null |
Het |
| Zbtb3 |
T |
G |
19: 8,780,729 (GRCm39) |
V114G |
probably damaging |
Het |
|
| Other mutations in Cts8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Cts8
|
APN |
13 |
61,399,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation