Incidental Mutation 'R5127:Cts8'
ID |
394833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cts8
|
Ensembl Gene |
ENSMUSG00000057446 |
Gene Name |
cathepsin 8 |
Synonyms |
Epcs68, CTS2, Epcs70 |
MMRRC Submission |
042715-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R5127 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61394561-61403162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 61401149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 126
(V126M)
|
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: V126M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021891 Gene: ENSMUSG00000057446 AA Change: V126M
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
|
Meta Mutation Damage Score |
0.6299 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
93% (42/45) |
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- CACTCTGTGAGAAGGTGACC -3'
(R):5'- GAGTTTGACATAGACTGCATCAC -3'
Sequencing Primer
(F):5'- CTCTGTGAGAAGGTGACCAGAAAG -3'
(R):5'- GACTGATATTCCAGTCCCA -3'
|
Posted On |
2016-06-21 |