Incidental Mutation 'R5365:Ctsq'
| ID |
423095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsq
|
| Ensembl Gene |
ENSMUSG00000021439 |
| Gene Name |
cathepsin Q |
| Synonyms |
1600010J02Rik |
| MMRRC Submission |
042943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5365 (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 61185632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 170
(I170F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021888
AA Change: I170F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
AA Change: I170F
| 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: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
| Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
| Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
| Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
| Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
| Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
| Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
| Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
| Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
| Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
probably damaging |
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 |
|
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'- TGAAATGACAACATAGGAAGTCCAC -3'
(R):5'- CTGCATCCAAGTCCTCTAGGAG -3'
Sequencing Primer
(F):5'- AAGTCCACTTACTTTTCCTTCATAAG -3'
(R):5'- AGTCCTCTAGGAGACTAACCATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation