Incidental Mutation 'R9533:Lamp3'
| ID |
719583 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19519808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 125
(D125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081880
AA Change: D125G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: D125G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Lamp
|
103 |
411 |
5.6e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (40/40) |
| 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 |
|---|
| Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
| Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
| Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
| C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
| Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
| Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
| Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
| Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
| Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,924 (GRCm39) |
S535L |
probably benign |
Het |
| Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
| Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
| Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
| Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,789,725 (GRCm39) |
Y514C |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
| Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
| Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,327,034 (GRCm39) |
V209A |
unknown |
Het |
| Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
| Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
| Tspan1 |
T |
A |
4: 116,020,211 (GRCm39) |
M233L |
probably benign |
Het |
| Zfp574 |
G |
A |
7: 24,780,379 (GRCm39) |
G467D |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
| Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
probably damaging |
Het |
|
| Other mutations in Lamp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01901:Lamp3
|
APN |
16 |
19,492,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGGTGAGGTCGTTGATC -3'
(R):5'- GGATGATTACATTCAAATGGCTGC -3'
Sequencing Primer
(F):5'- TCCTAAGACATTAGTGGACAGAGTTG -3'
(R):5'- TCAAATGGCTGCTGAAACTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation