Incidental Mutation 'R0036:Ctsq'
| ID |
15501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsq
|
| Ensembl Gene |
ENSMUSG00000021439 |
| Gene Name |
cathepsin Q |
| Synonyms |
1600010J02Rik |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
61182852-61188411 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 61185485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021888]
[ENSMUST00000021888]
[ENSMUST00000021888]
|
| AlphaFold |
Q91ZF4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021888
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
29 |
88 |
3.76e-24 |
SMART |
|
Pept_C1
|
125 |
342 |
3.46e-103 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021888
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
29 |
88 |
3.76e-24 |
SMART |
|
Pept_C1
|
125 |
342 |
3.46e-103 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000021888
|
| SMART Domains |
Protein: ENSMUSP00000021888
Gene: ENSMUSG00000021439
| 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 |
0.9746 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.3%
- 10x: 43.3%
- 20x: 23.5%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap44 |
A |
G |
16: 44,259,432 (GRCm39) |
E1098G |
possibly damaging |
Het |
| Cfap95 |
A |
T |
19: 23,593,932 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,860,265 (GRCm39) |
V886M |
probably damaging |
Het |
| Eaf2 |
T |
C |
16: 36,621,020 (GRCm39) |
Y224C |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,058,192 (GRCm39) |
S165T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,739,914 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,648 (GRCm39) |
K514R |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,248,590 (GRCm39) |
W435R |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,365,028 (GRCm39) |
I226V |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,184,194 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Ppic |
A |
T |
18: 53,542,264 (GRCm39) |
I148N |
probably damaging |
Het |
| Sdr16c6 |
C |
A |
4: 4,063,335 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Tfg |
G |
T |
16: 56,511,358 (GRCm39) |
Q324K |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,556,496 (GRCm39) |
G248* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Protein Function and Prediction |
Cathepsin Q is a placenta-specific C1A cathepsin in mouse and rat placenta; no homologs are found in the human or rabbit (1;2). Placental cathepsins are essential for implantation, placentation, and nourishment of embryo (3). It is proposed that cathepsin Q functions to coordinate gas/nutrient exchange between maternal and fetal blood, immunological modification and/or the processing of secretory protein factors (3).
|
| References |
1. Sol-Church, K., Picerno, G. N., Stabley, D. L., Frenck, J., Xing, S., Bertenshaw, G. P., and Mason, R. W. (2002) Evolution of Placentally Expressed Cathepsins. Biochem Biophys Res Commun. 293, 23-29.
3. Ishida, M., Ono, K., Taguchi, S., Ohashi, S., Naito, J., Horiguchi, K., and Harigaya, T. (2004) Cathepsin Gene Expression in Mouse Placenta during the Latter Half of Pregnancy. J Reprod Dev. 50, 515-523. |
| Posted On |
2012-12-21 |
| Science Writer |
Anne Murray |
Incidental Mutation