Incidental Mutation 'IGL02492:Ctse'
| ID |
295701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctse
|
| Ensembl Gene |
ENSMUSG00000004552 |
| Gene Name |
cathepsin E |
| Synonyms |
A430072O03Rik, CE, C920004C08Rik, CatE |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131566052-131603245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131595972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 221
(S221R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073350]
[ENSMUST00000112411]
|
| AlphaFold |
P70269 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073350
AA Change: S221R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073072
Gene: ENSMUSG00000004552
AA Change: S221R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
22 |
50 |
7e-14 |
PFAM |
|
Pfam:Asp
|
78 |
395 |
2.1e-129 |
PFAM |
|
Pfam:TAXi_N
|
79 |
236 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112411
AA Change: S221R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108030
Gene: ENSMUSG00000004552
AA Change: S221R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
22 |
50 |
2.7e-12 |
PFAM |
|
Pfam:Asp
|
78 |
315 |
2e-99 |
PFAM |
|
Pfam:TAXi_N
|
79 |
236 |
6.1e-14 |
PFAM |
|
Pfam:Asp
|
310 |
362 |
6.8e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141061
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase A1 family of aspartate proteases and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. Homozygous knockout mice for this gene exhibit lysosomal storage disorder, impaired autophagy, mitochondrial abnormalities, dermatitis, and reduced weight gain in an obesity model. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted mutation are viable and fertile, but develop skin lesions on the face, ears, neck and dorsal skin which are similar to those seen in human atopic dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,945 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
T |
A |
1: 10,097,377 (GRCm39) |
T291S |
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Frzb |
A |
T |
2: 80,254,935 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,252 (GRCm39) |
L711P |
probably benign |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,790,561 (GRCm39) |
V129A |
possibly damaging |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ctse |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02151:Ctse
|
APN |
1 |
131,600,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0057:Ctse
|
UTSW |
1 |
131,591,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Ctse
|
UTSW |
1 |
131,591,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ctse
|
UTSW |
1 |
131,602,516 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Ctse
|
UTSW |
1 |
131,600,185 (GRCm39) |
nonsense |
probably null |
|
|
R4190:Ctse
|
UTSW |
1 |
131,590,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4668:Ctse
|
UTSW |
1 |
131,590,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Ctse
|
UTSW |
1 |
131,592,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Ctse
|
UTSW |
1 |
131,595,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Ctse
|
UTSW |
1 |
131,600,251 (GRCm39) |
nonsense |
probably null |
|
|
R5705:Ctse
|
UTSW |
1 |
131,592,112 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7207:Ctse
|
UTSW |
1 |
131,592,112 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7828:Ctse
|
UTSW |
1 |
131,590,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Ctse
|
UTSW |
1 |
131,600,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Ctse
|
UTSW |
1 |
131,590,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8270:Ctse
|
UTSW |
1 |
131,595,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Ctse
|
UTSW |
1 |
131,592,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Ctse
|
UTSW |
1 |
131,595,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Ctse
|
UTSW |
1 |
131,592,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0067:Ctse
|
UTSW |
1 |
131,598,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ctse
|
UTSW |
1 |
131,600,182 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation