Incidental Mutation 'R3740:Ctso'
| ID |
270328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctso
|
| Ensembl Gene |
ENSMUSG00000028015 |
| Gene Name |
cathepsin O |
| Synonyms |
A330105D01Rik |
| MMRRC Submission |
040726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
81839908-81864032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81859556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 288
(V288I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029645]
[ENSMUST00000029649]
|
| AlphaFold |
Q8BM88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029645
|
| SMART Domains |
Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_dioxygenase
|
26 |
372 |
8e-177 |
PFAM |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029649
AA Change: V288I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029649
Gene: ENSMUSG00000028015
AA Change: V288I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pept_C1
|
99 |
311 |
2.21e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155144
|
| Meta Mutation Damage Score |
0.3424 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
94% (29/31) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cathepsin family of cysteine proteases that are involved in the degradation of cellular proteins. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,535 (GRCm39) |
R103G |
probably benign |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Fam174b |
T |
C |
7: 73,390,578 (GRCm39) |
|
probably null |
Het |
| Fgfr1op2 |
A |
G |
6: 146,496,731 (GRCm39) |
I190V |
possibly damaging |
Het |
| Flt1 |
G |
A |
5: 147,536,403 (GRCm39) |
R813W |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
T |
C |
9: 64,928,755 (GRCm39) |
E24G |
possibly damaging |
Het |
| Kat6b |
T |
G |
14: 21,720,112 (GRCm39) |
M1488R |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,274 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Mical1 |
A |
C |
10: 41,355,067 (GRCm39) |
D192A |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,223 (GRCm39) |
K255E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Serpinb6e |
T |
A |
13: 34,022,943 (GRCm39) |
I147F |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,134,476 (GRCm39) |
M136V |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,261 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,151 (GRCm39) |
N568S |
probably benign |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
| Zfp69 |
T |
A |
4: 120,788,071 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ctso |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02619:Ctso
|
APN |
3 |
81,848,836 (GRCm39) |
splice site |
probably benign |
|
|
IGL02696:Ctso
|
APN |
3 |
81,858,691 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0309:Ctso
|
UTSW |
3 |
81,852,168 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0357:Ctso
|
UTSW |
3 |
81,858,850 (GRCm39) |
splice site |
probably benign |
|
|
R2511:Ctso
|
UTSW |
3 |
81,840,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3741:Ctso
|
UTSW |
3 |
81,859,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3742:Ctso
|
UTSW |
3 |
81,859,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Ctso
|
UTSW |
3 |
81,840,047 (GRCm39) |
missense |
probably benign |
|
|
R4801:Ctso
|
UTSW |
3 |
81,861,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4802:Ctso
|
UTSW |
3 |
81,861,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Ctso
|
UTSW |
3 |
81,849,688 (GRCm39) |
intron |
probably benign |
|
|
R5891:Ctso
|
UTSW |
3 |
81,861,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6755:Ctso
|
UTSW |
3 |
81,849,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTATGGAGCTGCCTGCAG -3'
(R):5'- TCTGGGGAAGTTTAATAACCTAGATGG -3'
Sequencing Primer
(F):5'- GAGCTGCCTGCAGAAAATAATTTGC -3'
(R):5'- TTTCTCATTAACAGGATAAGCAACC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation