Incidental Mutation 'IGL00897:Ctsq'
| ID |
28819 |
| 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: 0.067)
|
| Stock # |
IGL00897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61185539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 201
(V201F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021888
AA Change: V201F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: V201F
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,815,348 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,502 (GRCm39) |
Y64C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,604,187 (GRCm39) |
E1302D |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,145 (GRCm39) |
I1344T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,882 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,922,419 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,254,723 (GRCm39) |
D1304G |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,990,847 (GRCm39) |
D293N |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,727,508 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,078 (GRCm39) |
E1421G |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,526,664 (GRCm39) |
Y873F |
probably benign |
Het |
| Fos |
C |
T |
12: 85,523,120 (GRCm39) |
T344I |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,206,264 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,639,836 (GRCm39) |
T846A |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,011 (GRCm39) |
V351A |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,291,921 (GRCm39) |
M846T |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,352,225 (GRCm39) |
F604L |
possibly damaging |
Het |
| Mab21l3 |
C |
A |
3: 101,730,771 (GRCm39) |
R156L |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,944,619 (GRCm39) |
E379G |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,365,518 (GRCm39) |
L119P |
probably damaging |
Het |
| Neurod2 |
C |
T |
11: 98,218,595 (GRCm39) |
V190M |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,422,727 (GRCm39) |
N371K |
probably benign |
Het |
| Nr1d2 |
A |
T |
14: 18,214,993 (GRCm38) |
C340S |
probably benign |
Het |
| Nsg1 |
A |
T |
5: 38,302,060 (GRCm39) |
V117D |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or7e168 |
T |
G |
9: 19,719,917 (GRCm39) |
V101G |
probably damaging |
Het |
| Paqr4 |
T |
C |
17: 23,956,544 (GRCm39) |
D273G |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,813,718 (GRCm39) |
T686A |
probably benign |
Het |
| Ppp1r8 |
G |
A |
4: 132,555,213 (GRCm39) |
A335V |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,557 (GRCm39) |
Y65* |
probably null |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Tmem232 |
T |
C |
17: 65,563,569 (GRCm39) |
E608G |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,019 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,921 (GRCm39) |
I725T |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,007 (GRCm39) |
|
probably benign |
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 |
|
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 |
2013-04-17 |
Incidental Mutation