Incidental Mutation 'R1568:Lamp3'
ID |
175448 |
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 |
039607-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19492275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 323
(M323K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
AlphaFold |
Q7TST5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081880
AA Change: M323K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080556 Gene: ENSMUSG00000041247 AA Change: M323K
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
Validation Efficiency |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
G |
8: 25,137,799 (GRCm39) |
|
probably null |
Het |
Adgb |
A |
T |
10: 10,318,409 (GRCm39) |
Y138* |
probably null |
Het |
Adra1d |
T |
C |
2: 131,388,092 (GRCm39) |
R488G |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,979,739 (GRCm39) |
G341E |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,808,838 (GRCm39) |
D690G |
probably damaging |
Het |
Arhgef38 |
C |
T |
3: 132,838,225 (GRCm39) |
E21K |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,857,155 (GRCm39) |
M402V |
probably damaging |
Het |
Atp8b4 |
G |
T |
2: 126,167,314 (GRCm39) |
H1062N |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,139 (GRCm39) |
H131R |
probably damaging |
Het |
Cblb |
C |
T |
16: 51,956,192 (GRCm39) |
T265M |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,945,519 (GRCm39) |
M1011K |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,781,410 (GRCm39) |
Y711* |
probably null |
Het |
Clca4a |
A |
G |
3: 144,658,690 (GRCm39) |
Y842H |
probably benign |
Het |
Clspn |
T |
A |
4: 126,475,310 (GRCm39) |
M1021K |
probably benign |
Het |
Cpne8 |
G |
T |
15: 90,503,845 (GRCm39) |
R107S |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,359,123 (GRCm39) |
I298T |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,157,553 (GRCm39) |
K858R |
probably null |
Het |
Fasn |
A |
T |
11: 120,704,075 (GRCm39) |
V1448E |
possibly damaging |
Het |
Ghdc |
A |
G |
11: 100,659,331 (GRCm39) |
I322T |
probably benign |
Het |
Gins2 |
T |
C |
8: 121,308,939 (GRCm39) |
D105G |
probably damaging |
Het |
Insr |
A |
T |
8: 3,215,576 (GRCm39) |
D975E |
probably benign |
Het |
Klrc3 |
T |
C |
6: 129,616,510 (GRCm39) |
D169G |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,793,443 (GRCm39) |
S532C |
unknown |
Het |
Lgmn |
T |
C |
12: 102,360,868 (GRCm39) |
I423M |
possibly damaging |
Het |
Lpgat1 |
A |
T |
1: 191,508,538 (GRCm39) |
T359S |
possibly damaging |
Het |
Lrguk |
T |
A |
6: 34,063,373 (GRCm39) |
I466N |
probably damaging |
Het |
Magi3 |
A |
C |
3: 103,996,843 (GRCm39) |
M234R |
probably benign |
Het |
Myh14 |
G |
A |
7: 44,261,122 (GRCm39) |
R1042* |
probably null |
Het |
Nfia |
T |
G |
4: 97,999,461 (GRCm39) |
Y378D |
possibly damaging |
Het |
Npffr1 |
T |
A |
10: 61,462,012 (GRCm39) |
S383T |
possibly damaging |
Het |
Or4f57 |
C |
A |
2: 111,790,585 (GRCm39) |
V278F |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,293,977 (GRCm39) |
I199F |
probably benign |
Het |
Or5b112 |
C |
A |
19: 13,319,539 (GRCm39) |
P139Q |
probably benign |
Het |
Or9s14 |
T |
C |
1: 92,535,676 (GRCm39) |
L39P |
probably damaging |
Het |
Osr1 |
G |
A |
12: 9,629,798 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
C |
4: 102,454,896 (GRCm39) |
R375S |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,942,011 (GRCm39) |
E150G |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,408,897 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
A |
G |
3: 136,634,305 (GRCm39) |
T422A |
probably benign |
Het |
Proser1 |
T |
C |
3: 53,385,180 (GRCm39) |
V354A |
possibly damaging |
Het |
Rgs20 |
G |
T |
1: 5,091,050 (GRCm39) |
R127S |
probably benign |
Het |
Sanbr |
T |
C |
11: 23,539,971 (GRCm39) |
K48E |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,167,998 (GRCm39) |
D171G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,827,143 (GRCm39) |
E417G |
possibly damaging |
Het |
Serpinb6b |
T |
C |
13: 33,158,895 (GRCm39) |
L32S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc39a10 |
A |
T |
1: 46,865,375 (GRCm39) |
S487T |
probably benign |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,737,925 (GRCm39) |
D265G |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,724,950 (GRCm39) |
T77A |
probably benign |
Het |
Sybu |
G |
T |
15: 44,582,228 (GRCm39) |
S132* |
probably null |
Het |
Virma |
T |
C |
4: 11,528,776 (GRCm39) |
S1288P |
probably damaging |
Het |
Vmn1r229 |
T |
A |
17: 21,035,067 (GRCm39) |
V104D |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm39) |
T19A |
probably benign |
Het |
Vmn2r86 |
C |
T |
10: 130,289,010 (GRCm39) |
V164I |
probably benign |
Het |
Wfdc13 |
G |
T |
2: 164,528,854 (GRCm39) |
A64S |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,896,113 (GRCm39) |
H318Q |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,040,843 (GRCm39) |
|
probably null |
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 |
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 |
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'- AACCACATGATCTGGCCCCTTGAC -3'
(R):5'- ATGGCAGGACTCTAAGGTTACCCC -3'
Sequencing Primer
(F):5'- GGAACTGCCTCTTAGGTCCTTAAAG -3'
(R):5'- TCTAAGGTTACCCCAACTGATGG -3'
|
Posted On |
2014-04-24 |