Incidental Mutation 'R9544:Lamp3'
ID |
720026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lamp3
|
Ensembl Gene |
ENSMUSG00000041247 |
Gene Name |
lysosomal-associated membrane protein 3 |
Synonyms |
TSC403, 1200002D17Rik, Cd208, DC-LAMP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9544 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 19494832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
AlphaFold |
Q7TST5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000081880
|
SMART Domains |
Protein: ENSMUSP00000080556 Gene: ENSMUSG00000041247
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: 99.9%
- 10x: 99.1%
- 20x: 96.7%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,202 (GRCm39) |
E82G |
possibly damaging |
Het |
Adra2a |
C |
G |
19: 54,035,454 (GRCm39) |
P270R |
probably benign |
Het |
Alox12b |
A |
T |
11: 69,054,812 (GRCm39) |
I272F |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,250,468 (GRCm39) |
E425D |
probably benign |
Het |
Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
Arhgap31 |
T |
G |
16: 38,423,976 (GRCm39) |
T697P |
probably damaging |
Het |
Aspm |
C |
A |
1: 139,385,523 (GRCm39) |
T389K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,209,905 (GRCm39) |
I73F |
probably damaging |
Het |
Btn2a2 |
A |
G |
13: 23,672,008 (GRCm39) |
V27A |
probably benign |
Het |
Cep97 |
A |
T |
16: 55,735,303 (GRCm39) |
N570K |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,036,266 (GRCm39) |
I751V |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,258,576 (GRCm39) |
F487L |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,348,186 (GRCm39) |
S266P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,732,830 (GRCm39) |
Y1118* |
probably null |
Het |
Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
Endou |
C |
A |
15: 97,609,969 (GRCm39) |
K442N |
probably damaging |
Het |
Fam210b |
C |
T |
2: 172,194,633 (GRCm39) |
R162W |
probably damaging |
Het |
Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
Flt3 |
T |
A |
5: 147,291,442 (GRCm39) |
Q641L |
possibly damaging |
Het |
Ighv3-3 |
T |
A |
12: 114,160,270 (GRCm39) |
I47F |
probably damaging |
Het |
Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Kcnq2 |
T |
G |
2: 180,729,407 (GRCm39) |
D532A |
probably damaging |
Het |
Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
Lcn3 |
A |
T |
2: 25,656,151 (GRCm39) |
I69L |
probably benign |
Het |
Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
Luc7l2 |
T |
G |
6: 38,580,315 (GRCm39) |
S305A |
unknown |
Het |
Malrd1 |
C |
T |
2: 15,640,809 (GRCm39) |
T513I |
unknown |
Het |
Mllt3 |
T |
A |
4: 87,759,418 (GRCm39) |
D210V |
probably damaging |
Het |
Mmp14 |
A |
G |
14: 54,673,251 (GRCm39) |
H53R |
possibly damaging |
Het |
Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
Nln |
G |
A |
13: 104,198,356 (GRCm39) |
T152M |
probably benign |
Het |
Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,637 (GRCm39) |
K227R |
probably benign |
Het |
Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
Or7g25 |
T |
A |
9: 19,160,561 (GRCm39) |
I45F |
probably damaging |
Het |
Pappa2 |
C |
A |
1: 158,784,817 (GRCm39) |
Q64H |
probably damaging |
Het |
Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,410,239 (GRCm39) |
G2582D |
probably damaging |
Het |
Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc29a3 |
G |
T |
10: 60,551,960 (GRCm39) |
C361* |
probably null |
Het |
Slx4 |
C |
A |
16: 3,797,917 (GRCm39) |
R1489L |
probably damaging |
Het |
Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,953,932 (GRCm39) |
G1061V |
probably damaging |
Het |
Timm29 |
G |
A |
9: 21,504,662 (GRCm39) |
R110H |
probably damaging |
Het |
Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,972,713 (GRCm39) |
T287A |
possibly damaging |
Het |
Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
Vmn1r123 |
T |
C |
7: 20,896,987 (GRCm39) |
I293T |
probably benign |
Het |
Vmn2r67 |
G |
A |
7: 84,786,317 (GRCm39) |
H563Y |
possibly damaging |
Het |
Vps8 |
G |
T |
16: 21,336,893 (GRCm39) |
V763L |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,050,752 (GRCm39) |
Y722* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
probably 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 |
|
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 |
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'- TCCCCAAAGATTTAGTTACATGCTG -3'
(R):5'- TAGAACTGAAATTCTCCTGGGG -3'
Sequencing Primer
(F):5'- GCAATGATGTGAGACCTGT -3'
(R):5'- GAAATCTGAGCCTAGGAGTCATTC -3'
|
Posted On |
2022-07-18 |