Incidental Mutation 'IGL01681:Cts8'
| ID |
103798 |
| 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 # |
IGL01681
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61394561-61403162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61401433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 61
(Q61K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021891]
[ENSMUST00000223988]
|
| AlphaFold |
Q9JI81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021891
AA Change: Q61K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: Q61K
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
A |
18: 80,171,103 (GRCm39) |
E1102V |
probably damaging |
Het |
| Appl2 |
T |
A |
10: 83,450,165 (GRCm39) |
I236F |
possibly damaging |
Het |
| Asb15 |
C |
A |
6: 24,567,137 (GRCm39) |
T486K |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
C |
T |
15: 82,501,332 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,443,315 (GRCm39) |
T575A |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,142,196 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,302 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gtf2h3 |
T |
A |
5: 124,732,854 (GRCm39) |
L216Q |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,710,133 (GRCm39) |
S207P |
probably benign |
Het |
| Kng2 |
T |
A |
16: 22,815,767 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,141,041 (GRCm39) |
E653K |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,613,286 (GRCm39) |
V37A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,091,498 (GRCm39) |
D5085G |
probably damaging |
Het |
| Nexn |
T |
C |
3: 151,949,507 (GRCm39) |
M321V |
possibly damaging |
Het |
| Nsmce3 |
A |
G |
7: 64,522,221 (GRCm39) |
I149T |
probably benign |
Het |
| Oxct1 |
T |
G |
15: 4,131,326 (GRCm39) |
S405A |
possibly damaging |
Het |
| Pdpr |
T |
A |
8: 111,859,568 (GRCm39) |
N703K |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,523,143 (GRCm39) |
D83E |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,228,866 (GRCm39) |
A104T |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,639,185 (GRCm39) |
I393V |
probably damaging |
Het |
| Thoc6 |
A |
T |
17: 23,888,857 (GRCm39) |
L184M |
possibly damaging |
Het |
| Tjp2 |
C |
T |
19: 24,112,213 (GRCm39) |
|
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,974,497 (GRCm39) |
L591P |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,512 (GRCm39) |
|
probably null |
Het |
| Trmt5 |
G |
T |
12: 73,329,377 (GRCm39) |
|
probably benign |
Het |
| Ubap1l |
T |
A |
9: 65,281,201 (GRCm39) |
M293K |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,935 (GRCm39) |
E211G |
probably damaging |
Het |
| Zbbx |
A |
C |
3: 74,959,785 (GRCm39) |
Y595D |
probably damaging |
Het |
| Zc3h10 |
G |
A |
10: 128,381,109 (GRCm39) |
Q83* |
probably null |
Het |
| Zcchc3 |
T |
C |
2: 152,255,925 (GRCm39) |
N258S |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation