Incidental Mutation 'R6881:Lamp3'
| ID |
536686 |
| 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 |
045030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6881 (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 19518368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 290
(T290A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081880
AA Change: T290A
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: T290A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Lamp
|
103 |
411 |
5.6e-75 |
PFAM |
|
| Meta Mutation Damage Score |
0.1168 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
| Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
| Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
| Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
| Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
| Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
| Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
| Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
| P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
| Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
| Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
| Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
| Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
| Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
| Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
| Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
| Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
| Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCCCTTCTTGGAGTGAC -3'
(R):5'- GTCACACAATTGGGGAGTTTG -3'
Sequencing Primer
(F):5'- CAAACATGATGTCAACACTTCCTTTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation