Incidental Mutation 'IGL03224:Cts6'
ID |
413722 |
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 # |
IGL03224
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61342961-61351206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61349547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 82
(D82G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021890]
|
AlphaFold |
Q9ET52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021890
AA Change: D82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021890 Gene: ENSMUSG00000021441 AA Change: D82G
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
Capn10 |
T |
G |
1: 92,867,046 (GRCm39) |
V92G |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
Cym |
T |
C |
3: 107,126,048 (GRCm39) |
S72G |
possibly damaging |
Het |
Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
Ints6l |
A |
G |
X: 55,543,287 (GRCm39) |
T525A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
Meikin |
A |
G |
11: 54,289,286 (GRCm39) |
M220V |
probably benign |
Het |
Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
Rasgef1a |
A |
G |
6: 118,066,767 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
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 |
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 |