Incidental Mutation 'R6537:Ctsq'
| ID |
520496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsq
|
| Ensembl Gene |
ENSMUSG00000021439 |
| Gene Name |
cathepsin Q |
| Synonyms |
1600010J02Rik |
| MMRRC Submission |
044663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61183140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 334
(I334N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021888
AA Change: I334N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: I334N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc4 |
T |
C |
5: 53,000,898 (GRCm39) |
S224P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,945,153 (GRCm39) |
T987M |
possibly damaging |
Het |
| Cort |
C |
T |
4: 149,211,081 (GRCm39) |
G8E |
probably benign |
Het |
| Ctdp1 |
G |
T |
18: 80,492,766 (GRCm39) |
D576E |
probably benign |
Het |
| Cwc15 |
A |
G |
9: 14,413,284 (GRCm39) |
D22G |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,887,898 (GRCm39) |
G136R |
probably null |
Het |
| Fxyd6 |
A |
G |
9: 45,302,092 (GRCm39) |
I37V |
possibly damaging |
Het |
| Gm10604 |
A |
C |
4: 11,980,221 (GRCm39) |
S28A |
unknown |
Het |
| Gm43302 |
A |
G |
5: 105,438,861 (GRCm39) |
I9T |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,305,280 (GRCm39) |
V3151A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,435,573 (GRCm39) |
T282A |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,457,458 (GRCm39) |
E782G |
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,946 (GRCm38) |
Y220C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,386,518 (GRCm39) |
S1033N |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,994,481 (GRCm39) |
T452A |
probably benign |
Het |
| Nrn1l |
G |
T |
8: 106,621,350 (GRCm39) |
R99L |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,519 (GRCm39) |
I1142N |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,358 (GRCm39) |
F728L |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,874,094 (GRCm39) |
|
probably null |
Het |
| Siglecf |
C |
T |
7: 43,005,423 (GRCm39) |
T461I |
probably benign |
Het |
| Slc7a8 |
C |
T |
14: 54,972,576 (GRCm39) |
A282T |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,392 (GRCm39) |
V1724A |
probably damaging |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,725,561 (GRCm39) |
Q609R |
probably benign |
Het |
| Trim45 |
C |
T |
3: 100,832,712 (GRCm39) |
A315V |
probably benign |
Het |
| Ttbk1 |
C |
T |
17: 46,781,236 (GRCm39) |
V446M |
probably damaging |
Het |
| Wrap53 |
T |
C |
11: 69,454,694 (GRCm39) |
D225G |
possibly damaging |
Het |
| Znhit6 |
A |
G |
3: 145,300,374 (GRCm39) |
I193V |
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 |
|
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 |
|
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'- TGAAAGCTCCCAGAATTCACATTAC -3'
(R):5'- CTGTAGTATTCACATCGTGGTTGAG -3'
Sequencing Primer
(F):5'- ACAATGTGGATTTTGTGGGACTCAAG -3'
(R):5'- GCACCTCTTGAACTCAGGAGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation