Incidental Mutation 'R6088:Lamp3'
ID |
486115 |
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 |
044245-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6088 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19492148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 365
(F365L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
AlphaFold |
Q7TST5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081880
AA Change: F365L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000080556 Gene: ENSMUSG00000041247 AA Change: F365L
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 |
0.7567 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
98% (59/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
T |
18: 59,035,174 (GRCm39) |
V360F |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,401,547 (GRCm39) |
E1605K |
possibly damaging |
Het |
Arid4a |
A |
G |
12: 71,069,010 (GRCm39) |
D54G |
probably damaging |
Het |
Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
G |
A |
17: 28,103,579 (GRCm39) |
|
probably null |
Het |
Card6 |
A |
T |
15: 5,134,501 (GRCm39) |
V234E |
possibly damaging |
Het |
Cd1d1 |
G |
T |
3: 86,906,009 (GRCm39) |
Q89K |
probably benign |
Het |
Ciita |
G |
A |
16: 10,329,795 (GRCm39) |
R693K |
probably damaging |
Het |
Cox7a2l |
G |
T |
17: 83,811,401 (GRCm39) |
L77I |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,803,101 (GRCm39) |
|
probably null |
Het |
Cts8 |
T |
C |
13: 61,401,780 (GRCm39) |
N39S |
probably benign |
Het |
Def8 |
G |
T |
8: 124,186,787 (GRCm39) |
E456* |
probably null |
Het |
Dld |
A |
G |
12: 31,390,988 (GRCm39) |
F153L |
probably benign |
Het |
Elf1 |
C |
T |
14: 79,804,701 (GRCm39) |
T122I |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,562,119 (GRCm39) |
N961S |
probably benign |
Het |
Esp24 |
A |
G |
17: 39,350,901 (GRCm39) |
I34V |
probably benign |
Het |
Fam184b |
C |
A |
5: 45,741,354 (GRCm39) |
K292N |
probably damaging |
Het |
Gabrg3 |
T |
A |
7: 56,634,826 (GRCm39) |
N119I |
probably damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,942,187 (GRCm39) |
H524R |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,631 (GRCm39) |
S205T |
probably benign |
Het |
Klb |
C |
T |
5: 65,506,356 (GRCm39) |
T201M |
probably benign |
Het |
Mad1l1 |
T |
A |
5: 140,179,718 (GRCm39) |
H390L |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
Myo5b |
T |
A |
18: 74,853,969 (GRCm39) |
L1196Q |
possibly damaging |
Het |
Ndufb8 |
A |
G |
19: 44,543,464 (GRCm39) |
S70P |
probably benign |
Het |
Neb |
T |
C |
2: 52,099,354 (GRCm39) |
D4832G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,813,135 (GRCm39) |
V540A |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,592,007 (GRCm39) |
D322G |
probably benign |
Het |
Or1e1d-ps1 |
A |
T |
11: 73,819,649 (GRCm39) |
T273S |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,183,698 (GRCm39) |
S191C |
probably damaging |
Het |
Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
Oxa1l |
T |
A |
14: 54,605,151 (GRCm39) |
|
probably null |
Het |
Pafah2 |
A |
G |
4: 134,140,692 (GRCm39) |
I221V |
probably benign |
Het |
Pibf1 |
T |
A |
14: 99,416,794 (GRCm39) |
F456I |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
Plekhg2 |
C |
T |
7: 28,060,438 (GRCm39) |
V964I |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,167,944 (GRCm39) |
V770L |
probably benign |
Het |
Ppl |
A |
T |
16: 4,922,852 (GRCm39) |
L213Q |
possibly damaging |
Het |
Ptprf |
G |
A |
4: 118,067,952 (GRCm39) |
T1785I |
possibly damaging |
Het |
Pycr2 |
G |
A |
1: 180,733,801 (GRCm39) |
G131E |
probably damaging |
Het |
Rbpj |
C |
T |
5: 53,808,710 (GRCm39) |
|
probably null |
Het |
Rcc1 |
G |
T |
4: 132,060,153 (GRCm39) |
D430E |
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,162,007 (GRCm39) |
V525A |
possibly damaging |
Het |
Samd7 |
G |
A |
3: 30,810,632 (GRCm39) |
M216I |
probably benign |
Het |
Ska3 |
A |
T |
14: 58,054,151 (GRCm39) |
D266E |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,641 (GRCm39) |
V569M |
probably damaging |
Het |
Slc26a1 |
C |
T |
5: 108,821,872 (GRCm39) |
E6K |
possibly damaging |
Het |
Slc4a4 |
T |
A |
5: 89,345,563 (GRCm39) |
V741E |
probably benign |
Het |
St6galnac3 |
C |
T |
3: 152,912,352 (GRCm39) |
G164S |
probably damaging |
Het |
Tgs1 |
T |
A |
4: 3,595,383 (GRCm39) |
N517K |
probably benign |
Het |
Tns4 |
A |
G |
11: 98,964,546 (GRCm39) |
S522P |
probably damaging |
Het |
Trpm1 |
A |
T |
7: 63,917,724 (GRCm39) |
M355L |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,234,400 (GRCm39) |
|
probably benign |
Het |
V1ra8 |
T |
C |
6: 90,180,082 (GRCm39) |
F95S |
probably damaging |
Het |
Zfp521 |
A |
C |
18: 13,979,166 (GRCm39) |
S416A |
possibly damaging |
Het |
Zfp574 |
T |
A |
7: 24,779,764 (GRCm39) |
V262E |
probably benign |
Het |
Zfp740 |
T |
A |
15: 102,117,243 (GRCm39) |
I77N |
probably damaging |
Het |
Zscan18 |
A |
T |
7: 12,509,125 (GRCm39) |
|
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 |
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'- TACATGTAAGCATAGGGTGAGTAC -3'
(R):5'- ATAGTAGTGGCACCTGGAACTC -3'
Sequencing Primer
(F):5'- GGTGAGTACAGCCCTTAAAACTTC -3'
(R):5'- GGCACCTGGAACTCAATTAATATTG -3'
|
Posted On |
2017-08-16 |