Incidental Mutation 'R0908:Cts8'
| ID |
83402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cts8
|
| Ensembl Gene |
ENSMUSG00000057446 |
| Gene Name |
cathepsin 8 |
| Synonyms |
Epcs68, CTS2, Epcs70 |
| MMRRC Submission |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R0908 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
61394561-61403162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61398730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 259
(Y259N)
|
| 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: Y259N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021891
Gene: ENSMUSG00000057446
AA Change: Y259N
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
| Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATGATTGGGAGATGCTCGGC -3'
(R):5'- GCAGACTTGGGGAAACTCTGCTAC -3'
Sequencing Primer
(F):5'- cagtttctcttgtttcgatgacc -3'
(R):5'- CTTGGGGAAACTCTGCTACAAAATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation