Incidental Mutation 'R6966:Lamp3'
| ID |
542023 |
| 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 |
045076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6966 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 19518403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 278
(L278*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081880
AA Change: L278*
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: L278*
| 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: 99.2%
- 20x: 97.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
G |
A |
8: 43,974,472 (GRCm39) |
R177C |
possibly damaging |
Het |
| Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
G |
A |
11: 120,173,985 (GRCm39) |
V1582M |
probably damaging |
Het |
| Baiap2 |
A |
T |
11: 119,897,231 (GRCm39) |
R529* |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,420,685 (GRCm39) |
Q1327* |
probably null |
Het |
| Brsk2 |
T |
A |
7: 141,538,270 (GRCm39) |
C139S |
possibly damaging |
Het |
| Catsper3 |
T |
A |
13: 55,946,672 (GRCm39) |
I123N |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,713,976 (GRCm39) |
N325D |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,297 (GRCm39) |
Y357F |
possibly damaging |
Het |
| Clstn2 |
A |
T |
9: 97,408,459 (GRCm39) |
Y416* |
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,451,160 (GRCm39) |
L2189Q |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,758 (GRCm39) |
I170L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,631,977 (GRCm39) |
Q1326R |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,564 (GRCm39) |
I210V |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,558 (GRCm39) |
Q34K |
probably benign |
Het |
| Fam184a |
T |
C |
10: 53,531,095 (GRCm39) |
T760A |
probably benign |
Het |
| Fnip1 |
G |
T |
11: 54,373,385 (GRCm39) |
V199F |
probably benign |
Het |
| Glyatl3 |
T |
C |
17: 41,215,829 (GRCm39) |
K226E |
probably damaging |
Het |
| Gm19410 |
C |
T |
8: 36,285,127 (GRCm39) |
T2093I |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,318,347 (GRCm39) |
E1206D |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,143,299 (GRCm39) |
W411* |
probably null |
Het |
| Hsf2 |
C |
A |
10: 57,372,080 (GRCm39) |
S60R |
probably damaging |
Het |
| Hyal5 |
C |
A |
6: 24,891,291 (GRCm39) |
N368K |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,843 (GRCm39) |
F308I |
probably benign |
Het |
| Kdm7a |
G |
A |
6: 39,129,773 (GRCm39) |
L468F |
probably damaging |
Het |
| Ly6c1 |
A |
T |
15: 74,917,289 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,606,458 (GRCm39) |
N524D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,531,531 (GRCm39) |
L603R |
possibly damaging |
Het |
| Mical1 |
A |
T |
10: 41,355,750 (GRCm39) |
Q198L |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,552,634 (GRCm39) |
I186F |
possibly damaging |
Het |
| Nt5c3b |
A |
T |
11: 100,320,750 (GRCm39) |
M257K |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Nub1 |
T |
A |
5: 24,894,470 (GRCm39) |
Y51N |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,237,679 (GRCm39) |
S68P |
probably damaging |
Het |
| Or10ag58 |
C |
T |
2: 87,265,623 (GRCm39) |
T264I |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,835 (GRCm39) |
S102P |
probably benign |
Het |
| Or6c66 |
A |
G |
10: 129,461,633 (GRCm39) |
V99A |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,511 (GRCm39) |
D276G |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,437,605 (GRCm39) |
Y217H |
probably damaging |
Het |
| Slc23a1 |
A |
T |
18: 35,758,114 (GRCm39) |
I142N |
probably damaging |
Het |
| Slx4ip |
T |
C |
2: 136,910,144 (GRCm39) |
S310P |
probably damaging |
Het |
| Tcp11l2 |
G |
A |
10: 84,427,133 (GRCm39) |
R199Q |
possibly damaging |
Het |
| Tgm4 |
T |
A |
9: 122,880,207 (GRCm39) |
D226E |
possibly damaging |
Het |
| Tspyl4 |
C |
A |
10: 34,173,673 (GRCm39) |
A55E |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,254,950 (GRCm39) |
I146T |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,308,441 (GRCm39) |
G2030D |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,052,213 (GRCm39) |
G359D |
possibly damaging |
Het |
| Vwa7 |
T |
C |
17: 35,236,072 (GRCm39) |
S9P |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,568,654 (GRCm39) |
C604R |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,821,615 (GRCm39) |
S483P |
probably damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,058,904 (GRCm39) |
A175T |
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 |
|
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'- AAAGACCCCAAAGAGGCTCTTG -3'
(R):5'- GTCACACAATTGGGGAGTTTG -3'
Sequencing Primer
(F):5'- GGCTAATTCTGACAGGATCTAGC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation