Incidental Mutation 'IGL00428:Ctsq'
ID |
5930 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ctsq
|
Ensembl Gene |
ENSMUSG00000021439 |
Gene Name |
cathepsin Q |
Synonyms |
1600010J02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL00428
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61185528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 204
(N204K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
AlphaFold |
Q91ZF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021888
AA Change: N204K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021888 Gene: ENSMUSG00000021439 AA Change: N204K
Domain | Start | End | E-Value | Type |
Inhibitor_I29
|
29 |
88 |
3.76e-24 |
SMART |
Pept_C1
|
125 |
342 |
3.46e-103 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144401
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
G |
A |
10: 14,343,119 (GRCm39) |
P276L |
probably benign |
Het |
Asap1 |
G |
A |
15: 63,991,803 (GRCm39) |
|
probably benign |
Het |
Axl |
T |
C |
7: 25,460,297 (GRCm39) |
T723A |
probably damaging |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,065,876 (GRCm39) |
N3491S |
probably benign |
Het |
Capn7 |
A |
G |
14: 31,085,535 (GRCm39) |
K503E |
probably benign |
Het |
Cbln4 |
A |
G |
2: 171,880,970 (GRCm39) |
V108A |
probably benign |
Het |
Ccdc71 |
C |
T |
9: 108,341,354 (GRCm39) |
T389M |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,508,452 (GRCm39) |
T393A |
unknown |
Het |
Cdh20 |
A |
T |
1: 104,881,612 (GRCm39) |
H359L |
probably benign |
Het |
Cfap119 |
A |
T |
7: 127,184,210 (GRCm39) |
S229T |
probably damaging |
Het |
Coro7 |
C |
T |
16: 4,452,500 (GRCm39) |
V364M |
possibly damaging |
Het |
Dnaja3 |
C |
T |
16: 4,512,309 (GRCm39) |
R238C |
probably damaging |
Het |
Dynlt1a |
C |
T |
17: 6,362,062 (GRCm39) |
V39I |
possibly damaging |
Het |
Gp1ba |
A |
G |
11: 70,531,478 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
T |
C |
1: 54,455,114 (GRCm39) |
Y583C |
probably damaging |
Het |
Invs |
T |
C |
4: 48,402,909 (GRCm39) |
F514S |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,833,750 (GRCm39) |
C484S |
probably benign |
Het |
Masp1 |
A |
G |
16: 23,295,062 (GRCm39) |
Y400H |
probably damaging |
Het |
Olfml3 |
G |
A |
3: 103,644,298 (GRCm39) |
|
probably null |
Het |
Pard3b |
T |
C |
1: 62,200,357 (GRCm39) |
S299P |
probably damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,611,623 (GRCm39) |
E194D |
possibly damaging |
Het |
Pip5k1c |
A |
T |
10: 81,141,545 (GRCm39) |
T78S |
probably benign |
Het |
Septin11 |
T |
C |
5: 93,304,877 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,422,823 (GRCm39) |
N11D |
probably benign |
Het |
Slc10a6 |
G |
A |
5: 103,760,362 (GRCm39) |
T211I |
probably benign |
Het |
Smim8 |
T |
C |
4: 34,769,006 (GRCm39) |
T93A |
probably benign |
Het |
Tg |
A |
G |
15: 66,645,273 (GRCm39) |
I774M |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,189,351 (GRCm39) |
T58A |
probably damaging |
Het |
Virma |
T |
C |
4: 11,519,424 (GRCm39) |
|
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,970,177 (GRCm39) |
D210G |
probably damaging |
Het |
Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
Other mutations in Ctsq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Ctsq
|
APN |
13 |
61,184,941 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00743:Ctsq
|
APN |
13 |
61,183,998 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00897:Ctsq
|
APN |
13 |
61,185,539 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01679:Ctsq
|
APN |
13 |
61,186,722 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01982:Ctsq
|
APN |
13 |
61,187,335 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01982:Ctsq
|
APN |
13 |
61,186,732 (GRCm39) |
missense |
probably benign |
|
IGL02448:Ctsq
|
APN |
13 |
61,184,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0036:Ctsq
|
UTSW |
13 |
61,185,485 (GRCm39) |
critical splice donor site |
probably null |
|
R0036:Ctsq
|
UTSW |
13 |
61,185,485 (GRCm39) |
critical splice donor site |
probably null |
|
R0741:Ctsq
|
UTSW |
13 |
61,184,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R1192:Ctsq
|
UTSW |
13 |
61,186,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Ctsq
|
UTSW |
13 |
61,183,986 (GRCm39) |
splice site |
probably null |
|
R3906:Ctsq
|
UTSW |
13 |
61,186,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R4483:Ctsq
|
UTSW |
13 |
61,186,726 (GRCm39) |
missense |
probably benign |
0.01 |
R4590:Ctsq
|
UTSW |
13 |
61,184,028 (GRCm39) |
missense |
probably benign |
0.17 |
R5157:Ctsq
|
UTSW |
13 |
61,184,913 (GRCm39) |
missense |
probably benign |
0.00 |
R5365:Ctsq
|
UTSW |
13 |
61,185,632 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5366:Ctsq
|
UTSW |
13 |
61,184,913 (GRCm39) |
missense |
probably benign |
0.00 |
R5546:Ctsq
|
UTSW |
13 |
61,185,702 (GRCm39) |
nonsense |
probably null |
|
R5595:Ctsq
|
UTSW |
13 |
61,184,874 (GRCm39) |
missense |
probably benign |
0.41 |
R6046:Ctsq
|
UTSW |
13 |
61,186,955 (GRCm39) |
missense |
probably benign |
0.00 |
R6049:Ctsq
|
UTSW |
13 |
61,186,572 (GRCm39) |
critical splice donor site |
probably null |
|
R6535:Ctsq
|
UTSW |
13 |
61,183,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R6537:Ctsq
|
UTSW |
13 |
61,183,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Ctsq
|
UTSW |
13 |
61,186,737 (GRCm39) |
missense |
probably benign |
0.00 |
R8189:Ctsq
|
UTSW |
13 |
61,184,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Ctsq
|
UTSW |
13 |
61,185,502 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ctsq
|
UTSW |
13 |
61,184,937 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ctsq
|
UTSW |
13 |
61,184,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |