Incidental Mutation 'R8036:Lamp3'
| ID |
618263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lamp3
|
| Ensembl Gene |
ENSMUSG00000041247 |
| Gene Name |
lysosomal-associated membrane protein 3 |
| Synonyms |
TSC403, 1200002D17Rik, Cd208, DC-LAMP |
| MMRRC Submission |
067473-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8036 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19519809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 125
(D125Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081880
AA Change: D125Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: D125Y
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,236,818 (GRCm39) |
V1473A |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,120,397 (GRCm39) |
C3604* |
probably null |
Het |
| Alas1 |
A |
G |
9: 106,112,721 (GRCm39) |
I545T |
probably benign |
Het |
| Anpep |
A |
C |
7: 79,491,646 (GRCm39) |
D118E |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,579,062 (GRCm39) |
S629T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,266,625 (GRCm39) |
R558C |
probably damaging |
Het |
| Camk2n1 |
A |
G |
4: 138,184,056 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,804,897 (GRCm39) |
N459S |
unknown |
Het |
| Cenpe |
ACTCTCT |
ACTCT |
3: 134,945,609 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
C |
1: 139,165,122 (GRCm39) |
I1062V |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,301,962 (GRCm39) |
L256P |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,501,739 (GRCm39) |
M507V |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,870,803 (GRCm39) |
I539T |
probably damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,788 (GRCm39) |
V264E |
probably damaging |
Het |
| Enpp4 |
A |
G |
17: 44,413,136 (GRCm39) |
S133P |
possibly damaging |
Het |
| Fam149a |
T |
C |
8: 45,802,048 (GRCm39) |
T476A |
probably benign |
Het |
| Fam20b |
A |
G |
1: 156,533,407 (GRCm39) |
W70R |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,728,566 (GRCm39) |
N508Y |
probably damaging |
Het |
| Fjx1 |
A |
G |
2: 102,280,720 (GRCm39) |
L405P |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,629,310 (GRCm39) |
Q2399* |
probably null |
Het |
| Foxa2 |
G |
C |
2: 147,885,909 (GRCm39) |
T308S |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,723,752 (GRCm39) |
D21G |
unknown |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,119,014 (GRCm39) |
E256G |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,528,414 (GRCm39) |
D63G |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,724,823 (GRCm39) |
D128G |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,458,649 (GRCm39) |
C105R |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,060,086 (GRCm39) |
V100E |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,478 (GRCm39) |
S4323P |
possibly damaging |
Het |
| Myoz3 |
T |
G |
18: 60,713,922 (GRCm39) |
|
probably null |
Het |
| Nlrp9c |
T |
A |
7: 26,070,864 (GRCm39) |
N906Y |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,592,276 (GRCm39) |
D352G |
probably benign |
Het |
| Or10x4 |
A |
G |
1: 174,219,382 (GRCm39) |
H249R |
probably damaging |
Het |
| Or51f23 |
A |
T |
7: 102,452,763 (GRCm39) |
H26L |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,186 (GRCm39) |
F223S |
probably benign |
Het |
| Or8w1 |
C |
T |
2: 87,465,847 (GRCm39) |
M81I |
probably benign |
Het |
| Pcsk9 |
G |
A |
4: 106,311,536 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,063,380 (GRCm39) |
I2230T |
possibly damaging |
Het |
| Pou2f3 |
T |
A |
9: 43,058,205 (GRCm39) |
T47S |
probably damaging |
Het |
| Rab8a |
A |
T |
8: 72,928,439 (GRCm39) |
I106F |
probably damaging |
Het |
| Relch |
A |
T |
1: 105,605,902 (GRCm39) |
I181F |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,041,439 (GRCm39) |
S295T |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,098 (GRCm39) |
N222K |
possibly damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,963 (GRCm39) |
I778L |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,033 (GRCm39) |
T244S |
probably benign |
Het |
| Tmem229b |
C |
A |
12: 79,011,862 (GRCm39) |
C23F |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,389 (GRCm39) |
Y80C |
probably benign |
Het |
| Ube2m |
G |
A |
7: 12,769,566 (GRCm39) |
T176I |
probably benign |
Het |
| Zfp790 |
G |
A |
7: 29,528,346 (GRCm39) |
A344T |
possibly damaging |
Het |
| Zfp90 |
G |
A |
8: 107,145,760 (GRCm39) |
V31M |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,949,918 (GRCm39) |
R659Q |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTAGTGGACAGAGTTGGC -3'
(R):5'- GCCAGAGGCTATCTTCAATATACTG -3'
Sequencing Primer
(F):5'- GGCCTCTGATTGGTTGTGC -3'
(R):5'- GGCTATCTTCAATATACTGCAACATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation