Incidental Mutation 'IGL01901:Lamp3'
ID |
179520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lamp3
|
Ensembl Gene |
ENSMUSG00000041247 |
Gene Name |
lysosomal-associated membrane protein 3 |
Synonyms |
TSC403, 1200002D17Rik, Cd208, DC-LAMP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01901
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19492169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 358
(F358L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
AlphaFold |
Q7TST5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081880
AA Change: F358L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080556 Gene: ENSMUSG00000041247 AA Change: F358L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Lamp
|
103 |
411 |
5.6e-75 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Lamp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02505:Lamp3
|
APN |
16 |
19,474,207 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02892:Lamp3
|
APN |
16 |
19,494,802 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03228:Lamp3
|
APN |
16 |
19,494,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4453001:Lamp3
|
UTSW |
16 |
19,492,210 (GRCm39) |
missense |
probably benign |
0.14 |
R0295:Lamp3
|
UTSW |
16 |
19,519,858 (GRCm39) |
nonsense |
probably null |
|
R0419:Lamp3
|
UTSW |
16 |
19,492,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R1568:Lamp3
|
UTSW |
16 |
19,492,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Lamp3
|
UTSW |
16 |
19,494,822 (GRCm39) |
missense |
probably benign |
0.11 |
R2018:Lamp3
|
UTSW |
16 |
19,519,961 (GRCm39) |
missense |
probably benign |
0.02 |
R2019:Lamp3
|
UTSW |
16 |
19,519,961 (GRCm39) |
missense |
probably benign |
0.02 |
R4072:Lamp3
|
UTSW |
16 |
19,519,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4073:Lamp3
|
UTSW |
16 |
19,519,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4075:Lamp3
|
UTSW |
16 |
19,519,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4076:Lamp3
|
UTSW |
16 |
19,519,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4333:Lamp3
|
UTSW |
16 |
19,492,186 (GRCm39) |
missense |
probably benign |
0.02 |
R4457:Lamp3
|
UTSW |
16 |
19,492,279 (GRCm39) |
missense |
probably benign |
0.19 |
R4868:Lamp3
|
UTSW |
16 |
19,520,040 (GRCm39) |
missense |
probably benign |
0.01 |
R4876:Lamp3
|
UTSW |
16 |
19,474,220 (GRCm39) |
missense |
probably damaging |
0.97 |
R5766:Lamp3
|
UTSW |
16 |
19,520,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R5832:Lamp3
|
UTSW |
16 |
19,520,070 (GRCm39) |
missense |
probably damaging |
0.98 |
R5997:Lamp3
|
UTSW |
16 |
19,519,778 (GRCm39) |
missense |
probably benign |
0.22 |
R6000:Lamp3
|
UTSW |
16 |
19,519,698 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6088:Lamp3
|
UTSW |
16 |
19,492,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Lamp3
|
UTSW |
16 |
19,518,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6636:Lamp3
|
UTSW |
16 |
19,519,983 (GRCm39) |
missense |
probably benign |
|
R6637:Lamp3
|
UTSW |
16 |
19,519,983 (GRCm39) |
missense |
probably benign |
|
R6881:Lamp3
|
UTSW |
16 |
19,518,368 (GRCm39) |
missense |
probably benign |
0.39 |
R6966:Lamp3
|
UTSW |
16 |
19,518,403 (GRCm39) |
nonsense |
probably null |
|
R7002:Lamp3
|
UTSW |
16 |
19,474,172 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7067:Lamp3
|
UTSW |
16 |
19,518,413 (GRCm39) |
missense |
probably damaging |
0.99 |
R7425:Lamp3
|
UTSW |
16 |
19,518,362 (GRCm39) |
critical splice donor site |
probably null |
|
R7781:Lamp3
|
UTSW |
16 |
19,518,440 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7866:Lamp3
|
UTSW |
16 |
19,518,490 (GRCm39) |
missense |
probably benign |
0.01 |
R7894:Lamp3
|
UTSW |
16 |
19,474,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Lamp3
|
UTSW |
16 |
19,474,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R8036:Lamp3
|
UTSW |
16 |
19,519,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R8776:Lamp3
|
UTSW |
16 |
19,474,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R8776-TAIL:Lamp3
|
UTSW |
16 |
19,474,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R8836:Lamp3
|
UTSW |
16 |
19,519,788 (GRCm39) |
missense |
probably benign |
0.16 |
R9314:Lamp3
|
UTSW |
16 |
19,492,192 (GRCm39) |
missense |
probably benign |
0.06 |
R9533:Lamp3
|
UTSW |
16 |
19,519,808 (GRCm39) |
missense |
probably benign |
0.02 |
R9544:Lamp3
|
UTSW |
16 |
19,494,832 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9588:Lamp3
|
UTSW |
16 |
19,494,832 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9689:Lamp3
|
UTSW |
16 |
19,518,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
RF018:Lamp3
|
UTSW |
16 |
19,520,000 (GRCm39) |
missense |
probably benign |
|
X0025:Lamp3
|
UTSW |
16 |
19,519,806 (GRCm39) |
missense |
possibly damaging |
0.82 |
X0063:Lamp3
|
UTSW |
16 |
19,519,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-05-07 |