Incidental Mutation 'R6303:Ctsh'
| ID |
509157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsh
|
| Ensembl Gene |
ENSMUSG00000032359 |
| Gene Name |
cathepsin H |
| Synonyms |
Cat H |
| MMRRC Submission |
044410-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
89936320-89958148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89944796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 76
(S76G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034915]
[ENSMUST00000123320]
[ENSMUST00000132718]
[ENSMUST00000143172]
[ENSMUST00000185459]
|
| AlphaFold |
P49935 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034915
AA Change: S84G
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034915
Gene: ENSMUSG00000032359
AA Change: S84G
| 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 |
possibly damaging
Transcript: ENSMUST00000132718
AA Change: S110G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117599
Gene: ENSMUSG00000032359
AA Change: S110G
| 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 |
possibly damaging
Transcript: ENSMUST00000143172
AA Change: S76G
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114427
Gene: ENSMUSG00000032359
AA Change: S76G
| 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
AA Change: S81G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140437
Gene: ENSMUSG00000032359
AA Change: S81G
| 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: ENSMUST00000190338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187437
|
| Meta Mutation Damage Score |
0.3537 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
| Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
| Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,131,724 (GRCm39) |
K489E |
probably benign |
Het |
| Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
probably benign |
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 |
|
IGL01875:Ctsh
|
APN |
9 |
89,946,260 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACAGTATCAGTTGAACTTG -3'
(R):5'- GATGGATACTTCTGCTCCCC -3'
Sequencing Primer
(F):5'- TTAAAGGCGTGTGCTACCAC -3'
(R):5'- GATGGATACTTCTGCTCCCCCAAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation