Incidental Mutation 'IGL01464:Ctsll3'
| ID |
88060 |
| 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 # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
60946064-60950658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60948134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 181
(G181D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043754]
|
| AlphaFold |
Q3ULP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043754
AA Change: G181D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036801
Gene: ENSMUSG00000056728
AA Change: G181D
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
| Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
| Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
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 |
|
IGL00903:Ctsll3
|
APN |
13 |
60,948,075 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01341:Ctsll3
|
APN |
13 |
60,946,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-11-18 |
Incidental Mutation