Incidental Mutation 'R4483:Ctsq'
ID |
331504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctsq
|
Ensembl Gene |
ENSMUSG00000021439 |
Gene Name |
cathepsin Q |
Synonyms |
1600010J02Rik |
MMRRC Submission |
041739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61186726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 93
(I93V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
AlphaFold |
Q91ZF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021888
AA Change: I93V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000021888 Gene: ENSMUSG00000021439 AA Change: I93V
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
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 |
|
R3906:Ctsq
|
UTSW |
13 |
61,186,585 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGCATGTGACACTATCATACCTG -3'
(R):5'- ACACGATGTCCAGAGTCTCC -3'
Sequencing Primer
(F):5'- TGATTCCTCACACGAGTCACATAG -3'
(R):5'- GATGTCCAGAGTCTCCTTTCCTCAG -3'
|
Posted On |
2015-07-21 |