Incidental Mutation 'R0676:Cts6'
ID |
61657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cts6
|
Ensembl Gene |
ENSMUSG00000021441 |
Gene Name |
cathepsin 6 |
Synonyms |
1600022N02Rik |
MMRRC Submission |
038861-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0676 (G1)
|
Quality Score |
92 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61342961-61351206 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 61345298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021890]
|
AlphaFold |
Q9ET52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021890
|
SMART Domains |
Protein: ENSMUSP00000021890 Gene: ENSMUSG00000021441
Domain | Start | End | E-Value | Type |
Inhibitor_I29
|
29 |
88 |
3.17e-22 |
SMART |
Pept_C1
|
115 |
333 |
9.61e-111 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
G |
5: 88,112,516 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,276,249 (GRCm39) |
N799D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
Crot |
A |
C |
5: 9,043,622 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
C |
10: 64,245,040 (GRCm39) |
H451P |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,586,063 (GRCm39) |
T540A |
probably damaging |
Het |
Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,374,169 (GRCm39) |
Y466N |
probably damaging |
Het |
Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
H4c9 |
T |
C |
13: 22,225,276 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,398 (GRCm39) |
D576V |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
Lrrk1 |
C |
T |
7: 65,944,729 (GRCm39) |
R627H |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
Mapk9 |
T |
C |
11: 49,773,983 (GRCm39) |
*382Q |
probably null |
Het |
Mn1 |
A |
G |
5: 111,568,900 (GRCm39) |
S957G |
possibly damaging |
Het |
Mrgprb8 |
A |
T |
7: 48,038,412 (GRCm39) |
M28L |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,555,749 (GRCm39) |
I913V |
probably benign |
Het |
Nolc1 |
T |
A |
19: 46,068,528 (GRCm39) |
|
probably benign |
Het |
Pde4dip |
A |
C |
3: 97,624,413 (GRCm39) |
|
probably benign |
Het |
Rbpj |
C |
T |
5: 53,803,390 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
C |
19: 29,555,047 (GRCm39) |
I387T |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,374,278 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
A |
T |
5: 35,876,458 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,379,462 (GRCm39) |
T435I |
probably damaging |
Het |
Slc22a26 |
A |
T |
19: 7,773,509 (GRCm39) |
|
probably benign |
Het |
Taf6l |
T |
C |
19: 8,750,733 (GRCm39) |
I114V |
probably benign |
Het |
Tbc1d8b |
A |
G |
X: 138,613,025 (GRCm39) |
S284G |
possibly damaging |
Het |
Tmem131l |
C |
T |
3: 83,842,122 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
C |
T |
17: 23,565,238 (GRCm39) |
S375F |
probably benign |
Het |
|
Other mutations in Cts6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00770:Cts6
|
APN |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
IGL00774:Cts6
|
APN |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
IGL02237:Cts6
|
APN |
13 |
61,345,313 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03071:Cts6
|
APN |
13 |
61,350,064 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03224:Cts6
|
APN |
13 |
61,349,547 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03282:Cts6
|
APN |
13 |
61,344,261 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0086:Cts6
|
UTSW |
13 |
61,344,271 (GRCm39) |
splice site |
probably benign |
|
R0201:Cts6
|
UTSW |
13 |
61,349,313 (GRCm39) |
nonsense |
probably null |
|
R0238:Cts6
|
UTSW |
13 |
61,349,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Cts6
|
UTSW |
13 |
61,349,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:Cts6
|
UTSW |
13 |
61,346,153 (GRCm39) |
splice site |
probably benign |
|
R1471:Cts6
|
UTSW |
13 |
61,344,194 (GRCm39) |
missense |
probably benign |
0.00 |
R1594:Cts6
|
UTSW |
13 |
61,346,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Cts6
|
UTSW |
13 |
61,349,393 (GRCm39) |
missense |
probably benign |
0.26 |
R1865:Cts6
|
UTSW |
13 |
61,349,393 (GRCm39) |
missense |
probably benign |
0.26 |
R1902:Cts6
|
UTSW |
13 |
61,349,329 (GRCm39) |
nonsense |
probably null |
|
R2097:Cts6
|
UTSW |
13 |
61,343,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R2235:Cts6
|
UTSW |
13 |
61,343,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R2829:Cts6
|
UTSW |
13 |
61,349,311 (GRCm39) |
missense |
probably benign |
0.01 |
R2910:Cts6
|
UTSW |
13 |
61,344,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R3757:Cts6
|
UTSW |
13 |
61,349,972 (GRCm39) |
nonsense |
probably null |
|
R4460:Cts6
|
UTSW |
13 |
61,343,272 (GRCm39) |
missense |
probably benign |
0.25 |
R4553:Cts6
|
UTSW |
13 |
61,345,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4623:Cts6
|
UTSW |
13 |
61,349,974 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4793:Cts6
|
UTSW |
13 |
61,349,626 (GRCm39) |
missense |
probably benign |
0.00 |
R4809:Cts6
|
UTSW |
13 |
61,349,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Cts6
|
UTSW |
13 |
61,349,415 (GRCm39) |
missense |
probably null |
|
R4866:Cts6
|
UTSW |
13 |
61,350,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5055:Cts6
|
UTSW |
13 |
61,344,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Cts6
|
UTSW |
13 |
61,349,626 (GRCm39) |
missense |
probably benign |
0.00 |
R6236:Cts6
|
UTSW |
13 |
61,344,192 (GRCm39) |
nonsense |
probably null |
|
R6428:Cts6
|
UTSW |
13 |
61,344,237 (GRCm39) |
missense |
probably damaging |
0.96 |
R6501:Cts6
|
UTSW |
13 |
61,344,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Cts6
|
UTSW |
13 |
61,344,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R6643:Cts6
|
UTSW |
13 |
61,349,607 (GRCm39) |
missense |
probably damaging |
0.96 |
R7397:Cts6
|
UTSW |
13 |
61,350,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8283:Cts6
|
UTSW |
13 |
61,349,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R8329:Cts6
|
UTSW |
13 |
61,343,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9009:Cts6
|
UTSW |
13 |
61,344,261 (GRCm39) |
missense |
probably benign |
0.04 |
R9438:Cts6
|
UTSW |
13 |
61,350,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTCAGGATTATTGAACGGACAGGAG -3'
(R):5'- AGGACCATGCAGGTACAATCCAAAG -3'
Sequencing Primer
(F):5'- tgtagtgtatgtagtgtatgtagtgg -3'
(R):5'- GAATTCTAAGGCTGAAATCACAGG -3'
|
Posted On |
2013-07-30 |