Incidental Mutation 'IGL02021:Ctsd'
| ID |
183959 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsd
|
| Ensembl Gene |
ENSMUSG00000007891 |
| Gene Name |
cathepsin D |
| Synonyms |
CatD, CD |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141929647-141941564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 141939213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 71
(L71I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066401]
[ENSMUST00000151120]
|
| AlphaFold |
P18242 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066401
AA Change: L71I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063904
Gene: ENSMUSG00000007891
AA Change: L71I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A1_Propeptide
|
21 |
49 |
1.7e-11 |
PFAM |
|
Pfam:Asp
|
78 |
274 |
1.6e-75 |
PFAM |
|
Pfam:TAXi_N
|
79 |
246 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133843
|
| SMART Domains |
Protein: ENSMUSP00000117247
Gene: ENSMUSG00000110040
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp
|
1 |
249 |
4.5e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151120
AA Change: L71I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121203
Gene: ENSMUSG00000007891
AA Change: L71I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:A1_Propeptide
|
21 |
48 |
6.9e-11 |
PFAM |
|
Pfam:Asp
|
78 |
407 |
4.7e-123 |
PFAM |
|
Pfam:TAXi_N
|
79 |
247 |
2.1e-10 |
PFAM |
|
Pfam:TAXi_C
|
326 |
406 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209263
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures,display retinal atrophy, and become blind. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
| Other mutations in Ctsd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Ctsd
|
APN |
7 |
141,936,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01963:Ctsd
|
APN |
7 |
141,930,336 (GRCm39) |
critical splice donor site |
probably null |
|
|
twiggy
|
UTSW |
7 |
141,930,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Ctsd
|
UTSW |
7 |
141,930,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Ctsd
|
UTSW |
7 |
141,931,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5762:Ctsd
|
UTSW |
7 |
141,937,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Ctsd
|
UTSW |
7 |
141,930,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Ctsd
|
UTSW |
7 |
141,930,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Ctsd
|
UTSW |
7 |
141,939,314 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6721:Ctsd
|
UTSW |
7 |
141,930,590 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7426:Ctsd
|
UTSW |
7 |
141,937,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7499:Ctsd
|
UTSW |
7 |
141,937,149 (GRCm39) |
splice site |
probably null |
|
|
R7829:Ctsd
|
UTSW |
7 |
141,930,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Ctsd
|
UTSW |
7 |
141,939,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9242:Ctsd
|
UTSW |
7 |
141,937,280 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9423:Ctsd
|
UTSW |
7 |
141,939,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Ctsd
|
UTSW |
7 |
141,936,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Ctsd
|
UTSW |
7 |
141,930,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ctsd
|
UTSW |
7 |
141,930,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation