Incidental Mutation 'IGL03071:Cts6'
ID |
417510 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cts6
|
Ensembl Gene |
ENSMUSG00000021441 |
Gene Name |
cathepsin 6 |
Synonyms |
1600022N02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03071
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61342961-61351206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61350064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 6
(F6I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021890]
|
AlphaFold |
Q9ET52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021890
AA Change: F6I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021890 Gene: ENSMUSG00000021441 AA Change: F6I
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
A |
8: 41,278,104 (GRCm39) |
L165H |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,989,282 (GRCm39) |
I3522T |
possibly damaging |
Het |
Anks1 |
G |
A |
17: 28,227,173 (GRCm39) |
A609T |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,833,117 (GRCm39) |
D1138G |
possibly damaging |
Het |
Appl2 |
T |
C |
10: 83,476,970 (GRCm39) |
|
probably null |
Het |
Arhgef19 |
A |
T |
4: 140,976,313 (GRCm39) |
I385F |
possibly damaging |
Het |
Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
Ccdc134 |
G |
A |
15: 82,018,826 (GRCm39) |
V119M |
possibly damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Clec2d |
T |
C |
6: 129,160,165 (GRCm39) |
S60P |
probably benign |
Het |
Cyyr1 |
G |
A |
16: 85,262,449 (GRCm39) |
H103Y |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,371,668 (GRCm39) |
S120T |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,624,513 (GRCm39) |
S994P |
probably benign |
Het |
Eya4 |
T |
G |
10: 23,198,971 (GRCm39) |
D3A |
probably benign |
Het |
Fhip2b |
A |
G |
14: 70,823,649 (GRCm39) |
C574R |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gria1 |
A |
T |
11: 56,902,936 (GRCm39) |
|
probably null |
Het |
Hectd1 |
T |
C |
12: 51,815,957 (GRCm39) |
T1377A |
probably benign |
Het |
Magi3 |
T |
G |
3: 103,923,202 (GRCm39) |
K1172Q |
possibly damaging |
Het |
Map3k1 |
A |
C |
13: 111,892,059 (GRCm39) |
D1065E |
possibly damaging |
Het |
Mindy4b-ps |
A |
T |
3: 58,717,158 (GRCm39) |
V242D |
probably damaging |
Het |
Mrgpra3 |
T |
C |
7: 47,238,929 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
C |
A |
1: 162,866,766 (GRCm39) |
G657C |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,784,395 (GRCm39) |
W318R |
probably damaging |
Het |
Or10j5 |
A |
G |
1: 172,784,502 (GRCm39) |
T47A |
probably benign |
Het |
Pacsin3 |
G |
A |
2: 91,090,837 (GRCm39) |
R48H |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,229,722 (GRCm39) |
E1114G |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,617,848 (GRCm39) |
D3226E |
probably benign |
Het |
Prl4a1 |
A |
T |
13: 28,204,246 (GRCm39) |
E96V |
probably benign |
Het |
Robo4 |
T |
C |
9: 37,315,580 (GRCm39) |
|
probably benign |
Het |
Scn7a |
G |
A |
2: 66,530,291 (GRCm39) |
L685F |
possibly damaging |
Het |
Spata1 |
A |
G |
3: 146,181,089 (GRCm39) |
Y290H |
possibly damaging |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tifa |
T |
G |
3: 127,590,728 (GRCm39) |
Y166* |
probably null |
Het |
Tnfsf10 |
G |
A |
3: 27,389,769 (GRCm39) |
D277N |
probably damaging |
Het |
Tram1 |
A |
T |
1: 13,649,998 (GRCm39) |
Y75* |
probably null |
Het |
Vmn1r60 |
T |
A |
7: 5,547,368 (GRCm39) |
N244I |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,855,685 (GRCm39) |
I248T |
possibly damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,589,182 (GRCm39) |
|
probably benign |
Het |
Zfp386 |
T |
A |
12: 116,022,760 (GRCm39) |
H124Q |
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 |
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 |
|
R0676:Cts6
|
UTSW |
13 |
61,345,298 (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 |
|
Posted On |
2016-08-02 |