Incidental Mutation 'IGL01875:Ctsh'
| ID |
178855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsh
|
| Ensembl Gene |
ENSMUSG00000032359 |
| Gene Name |
cathepsin H |
| Synonyms |
Cat H |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
89936320-89958148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89946260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034915]
[ENSMUST00000123320]
[ENSMUST00000132718]
[ENSMUST00000143172]
[ENSMUST00000185459]
|
| AlphaFold |
P49935 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034915
AA Change: S117P
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: S117P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
33 |
88 |
7.24e-17 |
SMART |
|
Pept_C1
|
114 |
330 |
7.46e-108 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127842
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132718
AA Change: S143P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: S143P
| Domain | Start | End | E-Value | Type |
|---|
|
Inhibitor_I29
|
59 |
114 |
7.24e-17 |
SMART |
|
Pfam:Peptidase_C1
|
140 |
198 |
4.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142750
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143172
AA Change: S109P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359
AA Change: S109P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1cs8a_
|
62 |
118 |
3e-6 |
SMART |
|
Blast:Pept_C1
|
63 |
119 |
3e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185459
|
| SMART Domains |
Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
30 |
85 |
5.3e-21 |
SMART |
|
Pept_C1
|
85 |
291 |
9.4e-87 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190338
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin H mini, heavy, and light chains. In rat and human, these three chains can associate to form the mature enzyme, which has both aminopeptidase and endopeptidase activities. Homozygous knockout mice for this gene exhibit impaired lung surfactant processing and reduced tumorigenesis in a pancreatic cancer model. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a reporter allele exhibit impaired lung surfactant and an abnormal eye globe with elongated axial length. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
| Afm |
G |
T |
5: 90,696,742 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,465,571 (GRCm39) |
|
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
| Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
| B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
| Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
| Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
| Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,595 (GRCm39) |
L211P |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
| Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
| Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
| Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
| Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,635 (GRCm39) |
E660G |
possibly damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,605,451 (GRCm39) |
D92E |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
| Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
| Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
unknown |
Het |
|
| Other mutations in Ctsh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Ctsh
|
APN |
9 |
89,946,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Ctsh
|
APN |
9 |
89,943,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Ctsh
|
UTSW |
9 |
89,957,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Ctsh
|
UTSW |
9 |
89,943,635 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1488:Ctsh
|
UTSW |
9 |
89,953,944 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1847:Ctsh
|
UTSW |
9 |
89,943,618 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3613:Ctsh
|
UTSW |
9 |
89,957,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Ctsh
|
UTSW |
9 |
89,943,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4860:Ctsh
|
UTSW |
9 |
89,936,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5187:Ctsh
|
UTSW |
9 |
89,936,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Ctsh
|
UTSW |
9 |
89,942,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5900:Ctsh
|
UTSW |
9 |
89,946,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:Ctsh
|
UTSW |
9 |
89,943,509 (GRCm39) |
missense |
probably benign |
|
|
R6303:Ctsh
|
UTSW |
9 |
89,944,796 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6657:Ctsh
|
UTSW |
9 |
89,942,555 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6905:Ctsh
|
UTSW |
9 |
89,944,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Ctsh
|
UTSW |
9 |
89,936,657 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7171:Ctsh
|
UTSW |
9 |
89,949,154 (GRCm39) |
missense |
probably benign |
|
|
R7342:Ctsh
|
UTSW |
9 |
89,957,040 (GRCm39) |
missense |
probably benign |
|
|
R7819:Ctsh
|
UTSW |
9 |
89,942,556 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7884:Ctsh
|
UTSW |
9 |
89,943,476 (GRCm39) |
missense |
probably benign |
|
|
R8099:Ctsh
|
UTSW |
9 |
89,946,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Ctsh
|
UTSW |
9 |
89,950,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9195:Ctsh
|
UTSW |
9 |
89,944,815 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-05-07 |
Incidental Mutation