Incidental Mutation 'R4072:Lamp3'
ID |
316361 |
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 |
040854-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4072 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19519466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 239
(L239P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
AlphaFold |
Q7TST5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081880
AA Change: L239P
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080556 Gene: ENSMUSG00000041247 AA Change: L239P
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (52/53) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,922,342 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
G |
16: 20,152,445 (GRCm39) |
I1367T |
probably damaging |
Het |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Acss3 |
C |
T |
10: 106,959,446 (GRCm39) |
|
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Ankar |
G |
T |
1: 72,727,751 (GRCm39) |
D169E |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
Atp4a |
T |
C |
7: 30,414,757 (GRCm39) |
I182T |
probably benign |
Het |
Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,742,917 (GRCm39) |
|
probably null |
Het |
C2cd4d |
C |
A |
3: 94,271,185 (GRCm39) |
C150* |
probably null |
Het |
Crtac1 |
T |
C |
19: 42,293,146 (GRCm39) |
Y321C |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,070,227 (GRCm39) |
H1526R |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,340,444 (GRCm39) |
R2284* |
probably null |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Galntl5 |
A |
T |
5: 25,403,478 (GRCm39) |
K150* |
probably null |
Het |
Gm19965 |
A |
G |
1: 116,748,801 (GRCm39) |
T161A |
probably benign |
Het |
Hydin |
G |
A |
8: 111,231,888 (GRCm39) |
E1617K |
possibly damaging |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,888,009 (GRCm39) |
I7652T |
unknown |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Or8u8 |
T |
A |
2: 86,011,991 (GRCm39) |
M155L |
probably benign |
Het |
Pde7a |
G |
A |
3: 19,311,017 (GRCm39) |
R70C |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,865,819 (GRCm39) |
I742T |
probably damaging |
Het |
Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,265,581 (GRCm39) |
E389V |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,315,870 (GRCm39) |
N407S |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,740,329 (GRCm39) |
D374G |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,945,201 (GRCm39) |
I192N |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
Tox |
T |
C |
4: 6,842,396 (GRCm39) |
T45A |
probably damaging |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Vwc2 |
T |
A |
11: 11,066,446 (GRCm39) |
L178Q |
probably damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGCTCCAAGTAAGAAGTATAC -3'
(R):5'- GGCCAACTCTGTCCACTAATG -3'
Sequencing Primer
(F):5'- GTATACATGTTGAAGTTCTCCTTGC -3'
(R):5'- ACTCTGTCCACTAATGTCTTAGGAAC -3'
|
Posted On |
2015-05-15 |