Incidental Mutation 'R5690:Ctsl'
| ID |
443644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctsl
|
| Ensembl Gene |
ENSMUSG00000021477 |
| Gene Name |
cathepsin L |
| Synonyms |
MEP, 1190035F06Rik, Cat L, major excreted protein |
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
64509704-64518586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64513022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 300
(N300I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021933]
[ENSMUST00000220737]
[ENSMUST00000222462]
[ENSMUST00000222517]
[ENSMUST00000223494]
|
| AlphaFold |
P06797 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021933
AA Change: N300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021933
Gene: ENSMUSG00000021477
AA Change: N300I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
29 |
88 |
1.98e-23 |
SMART |
|
Pept_C1
|
114 |
332 |
1.67e-128 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222462
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222517
AA Change: N300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222971
AA Change: N155I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223494
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the activation peptide and the cathepsin L1 heavy and light chains. The mature enzyme appears to be important in embryonic development through its processing of histone H3 and may play a role in disease progression in a model of kidney disease. Homozygous knockout mice for this gene exhibit hair loss, skin thickening, bone and heart defects, and enhanced susceptibility to bacterial infection. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,792,129 (GRCm39) |
|
probably null |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
probably benign |
Het |
|
| Other mutations in Ctsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Ctsl
|
APN |
13 |
64,515,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02895:Ctsl
|
APN |
13 |
64,514,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
mauvais
|
UTSW |
13 |
64,511,916 (GRCm39) |
splice site |
probably null |
|
|
patch
|
UTSW |
13 |
64,514,437 (GRCm39) |
nonsense |
probably null |
|
|
G1patch:Ctsl
|
UTSW |
13 |
64,514,437 (GRCm39) |
nonsense |
probably null |
|
|
R0518:Ctsl
|
UTSW |
13 |
64,513,032 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0521:Ctsl
|
UTSW |
13 |
64,513,032 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1546:Ctsl
|
UTSW |
13 |
64,515,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Ctsl
|
UTSW |
13 |
64,516,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5804:Ctsl
|
UTSW |
13 |
64,514,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Ctsl
|
UTSW |
13 |
64,515,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6670:Ctsl
|
UTSW |
13 |
64,511,916 (GRCm39) |
splice site |
probably null |
|
|
R6725:Ctsl
|
UTSW |
13 |
64,514,437 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Ctsl
|
UTSW |
13 |
64,512,961 (GRCm39) |
splice site |
probably null |
|
|
R7502:Ctsl
|
UTSW |
13 |
64,514,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Ctsl
|
UTSW |
13 |
64,514,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Ctsl
|
UTSW |
13 |
64,514,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Ctsl
|
UTSW |
13 |
64,516,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCTCCCCAACAAGCTTAC -3'
(R):5'- GGGATCTGTGAAGCTACAGAATTTTG -3'
Sequencing Primer
(F):5'- AGGTCTCCCCAACAAGCTTACTTTAG -3'
(R):5'- GCTACAGAATTTTGAGATACAGTCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation