Incidental Mutation 'IGL00903:Ctsll3'
| ID |
28828 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctsll3
|
| Ensembl Gene |
ENSMUSG00000056728 |
| Gene Name |
cathepsin L-like 3 |
| Synonyms |
2310051M13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
60946064-60950658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 60948075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 201
(V201L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043754]
|
| AlphaFold |
Q3ULP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043754
AA Change: V201L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036801
Gene: ENSMUSG00000056728
AA Change: V201L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Inhibitor_I29
|
29 |
88 |
1.25e-20 |
SMART |
|
Pept_C1
|
115 |
330 |
1.89e-127 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223578
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsk |
A |
G |
13: 76,246,487 (GRCm39) |
|
probably null |
Het |
| As3mt |
A |
G |
19: 46,700,673 (GRCm39) |
I159V |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,606,261 (GRCm39) |
V73A |
possibly damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,211 (GRCm39) |
Y1275H |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,826 (GRCm39) |
R727H |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,674 (GRCm39) |
T91S |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,377 (GRCm39) |
E2364G |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,911,535 (GRCm39) |
|
probably benign |
Het |
| Hcls1 |
T |
A |
16: 36,776,383 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,902,754 (GRCm39) |
R2432H |
possibly damaging |
Het |
| Kif27 |
C |
A |
13: 58,492,486 (GRCm39) |
V218F |
possibly damaging |
Het |
| Klhl20 |
T |
C |
1: 160,918,076 (GRCm39) |
Y70C |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lcn12 |
G |
T |
2: 25,383,332 (GRCm39) |
N15K |
possibly damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,326 (GRCm39) |
M118V |
probably benign |
Het |
| Nacad |
G |
T |
11: 6,550,632 (GRCm39) |
T853K |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,574,860 (GRCm39) |
Q293L |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,874,800 (GRCm39) |
V381M |
probably damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,884,828 (GRCm39) |
F37S |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,980,175 (GRCm39) |
Y371C |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,254,516 (GRCm39) |
Y143C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,949,343 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
A |
15: 83,587,702 (GRCm39) |
H89L |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,938,315 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,682,774 (GRCm39) |
V810A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
| Zfas1 |
G |
T |
2: 166,907,406 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ctsll3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Ctsll3
|
APN |
13 |
60,946,756 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01341:Ctsll3
|
APN |
13 |
60,946,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01464:Ctsll3
|
APN |
13 |
60,948,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02087:Ctsll3
|
APN |
13 |
60,947,423 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
indolent
|
UTSW |
13 |
60,946,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4504001:Ctsll3
|
UTSW |
13 |
60,948,823 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0145:Ctsll3
|
UTSW |
13 |
60,946,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Ctsll3
|
UTSW |
13 |
60,949,205 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1463:Ctsll3
|
UTSW |
13 |
60,949,089 (GRCm39) |
splice site |
probably benign |
|
|
R1551:Ctsll3
|
UTSW |
13 |
60,948,821 (GRCm39) |
nonsense |
probably null |
|
|
R1695:Ctsll3
|
UTSW |
13 |
60,948,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Ctsll3
|
UTSW |
13 |
60,948,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2168:Ctsll3
|
UTSW |
13 |
60,948,749 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4662:Ctsll3
|
UTSW |
13 |
60,947,416 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4783:Ctsll3
|
UTSW |
13 |
60,948,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Ctsll3
|
UTSW |
13 |
60,946,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5547:Ctsll3
|
UTSW |
13 |
60,948,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5743:Ctsll3
|
UTSW |
13 |
60,948,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5937:Ctsll3
|
UTSW |
13 |
60,947,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Ctsll3
|
UTSW |
13 |
60,948,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Ctsll3
|
UTSW |
13 |
60,948,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7755:Ctsll3
|
UTSW |
13 |
60,948,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Ctsll3
|
UTSW |
13 |
60,948,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9285:Ctsll3
|
UTSW |
13 |
60,946,402 (GRCm39) |
missense |
probably benign |
0.31 |
|
X0065:Ctsll3
|
UTSW |
13 |
60,949,098 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation