Incidental Mutation 'R0741:Ctsq'
ID |
70699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsq
|
Ensembl Gene |
ENSMUSG00000021439 |
Gene Name |
cathepsin Q |
Synonyms |
1600010J02Rik |
MMRRC Submission |
038922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R0741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61184019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 301
(D301V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
AlphaFold |
Q91ZF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021888
AA Change: D301V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021888 Gene: ENSMUSG00000021439 AA Change: D301V
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
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 |
Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
Eps8l3 |
A |
G |
3: 107,790,141 (GRCm39) |
T141A |
probably benign |
Het |
Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
Vgll1 |
A |
T |
X: 56,141,644 (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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGGGCCATTTACAAGCCAG -3'
(R):5'- ACCTGTGAAAATGCCTCCCTATTGTC -3'
Sequencing Primer
(F):5'- tcagccagaaacactgcc -3'
(R):5'- AAAATGCCTCCCTATTGTCATTGC -3'
|
Posted On |
2013-09-30 |