Incidental Mutation 'IGL01679:Ctsq'
| ID |
103731 |
| 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 # |
IGL01679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61186722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 94
(G94D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021888
AA Change: G94D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: G94D
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,071 (GRCm39) |
M2606K |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,470,035 (GRCm39) |
I1100V |
probably benign |
Het |
| Atp2a1 |
T |
C |
7: 126,055,981 (GRCm39) |
N280S |
probably benign |
Het |
| Car8 |
G |
A |
4: 8,169,674 (GRCm39) |
T278I |
possibly damaging |
Het |
| Catsperb |
G |
A |
12: 101,557,841 (GRCm39) |
|
probably null |
Het |
| Cfap47 |
A |
G |
X: 78,376,439 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,047,307 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,201,828 (GRCm39) |
E3378G |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,378 (GRCm39) |
K388E |
probably benign |
Het |
| Gab1 |
C |
T |
8: 81,518,178 (GRCm39) |
A145T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,233,038 (GRCm39) |
|
probably null |
Het |
| Gm6685 |
T |
C |
11: 28,289,586 (GRCm39) |
T77A |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,268,262 (GRCm39) |
K387R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,006 (GRCm39) |
V143A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,114,752 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,351,942 (GRCm39) |
T201A |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,049,901 (GRCm39) |
S650P |
probably damaging |
Het |
| Rplp2 |
T |
G |
7: 141,028,679 (GRCm39) |
I55S |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,031,919 (GRCm39) |
D998G |
probably benign |
Het |
| Slc13a2 |
C |
A |
11: 78,295,537 (GRCm39) |
A110S |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,595,835 (GRCm39) |
Y94* |
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,042,598 (GRCm39) |
R889G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,936 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,180,637 (GRCm39) |
E165G |
probably damaging |
Het |
|
| Other mutations in Ctsq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Ctsq
|
APN |
13 |
61,185,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation