Incidental Mutation 'R3906:Ctsq'
| ID |
309198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsq
|
| Ensembl Gene |
ENSMUSG00000021439 |
| Gene Name |
cathepsin Q |
| Synonyms |
1600010J02Rik |
| MMRRC Submission |
040813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R3906 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61186585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 140
(V140M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021888
AA Change: V140M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: V140M
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Cd1d1 |
A |
G |
3: 86,906,063 (GRCm39) |
W71R |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,103,427 (GRCm39) |
F397L |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,465,940 (GRCm39) |
I325V |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,754,926 (GRCm39) |
|
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Dsg3 |
G |
A |
18: 20,671,556 (GRCm39) |
G754R |
probably damaging |
Het |
| Endod1 |
T |
A |
9: 14,292,151 (GRCm39) |
Y39F |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Fpr2 |
A |
G |
17: 18,113,811 (GRCm39) |
K269R |
probably benign |
Het |
| Frk |
T |
G |
10: 34,460,052 (GRCm39) |
L216V |
probably benign |
Het |
| Gan |
G |
A |
8: 117,920,873 (GRCm39) |
V370M |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,803,337 (GRCm39) |
I285T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,565 (GRCm39) |
Y405N |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,143,324 (GRCm39) |
S1193T |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,944,651 (GRCm39) |
T653K |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,046,922 (GRCm39) |
Y182C |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,194,412 (GRCm39) |
D739G |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,822,039 (GRCm39) |
D21G |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,865,070 (GRCm39) |
C168Y |
probably damaging |
Het |
| Pacsin2 |
A |
C |
15: 83,263,256 (GRCm39) |
V125G |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,112 (GRCm39) |
|
probably benign |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,209 (GRCm39) |
V506E |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,753,095 (GRCm39) |
D1742V |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,466 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,772 (GRCm39) |
T378A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCATGTGGTTTAAGAAGATGAGC -3'
(R):5'- ACTTTTCCTTGAAGACTGATGAAG -3'
Sequencing Primer
(F):5'- ACACAGGCAGATCTCTGTGGATTC -3'
(R):5'- TTCCTTGAAGACTGATGAAGAATTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation