Incidental Mutation 'R4457:Lamp3'
| ID |
329972 |
| 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 |
041717-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4457 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19492279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 322
(M322L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081880
AA Change: M322L
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: M322L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
G |
16: 90,351,260 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025G04Rik |
T |
C |
1: 151,796,805 (GRCm39) |
R87G |
probably damaging |
Het |
| 9030619P08Rik |
T |
A |
15: 75,303,249 (GRCm39) |
|
noncoding transcript |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,027 (GRCm39) |
S593P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,215 (GRCm39) |
K181R |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,443,427 (GRCm39) |
I383T |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,884 (GRCm39) |
D398G |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,537,464 (GRCm39) |
Y2238H |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,779,781 (GRCm39) |
N3161S |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 31,032,125 (GRCm39) |
H4148Q |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,766,321 (GRCm39) |
S397G |
possibly damaging |
Het |
| Eya4 |
A |
T |
10: 22,992,566 (GRCm39) |
S462R |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,690,377 (GRCm39) |
V7I |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,073 (GRCm39) |
M437K |
probably benign |
Het |
| Gm2840 |
T |
G |
5: 96,322,187 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
A |
G |
1: 21,368,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
A |
G |
9: 4,427,074 (GRCm39) |
W789R |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,546 (GRCm39) |
D36G |
probably damaging |
Het |
| Hps5 |
A |
T |
7: 46,433,037 (GRCm39) |
C228S |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,171,395 (GRCm39) |
C270S |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,674 (GRCm39) |
A73S |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,723,347 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,673 (GRCm39) |
H131Y |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,422,129 (GRCm39) |
|
probably null |
Het |
| Letmd1 |
T |
C |
15: 100,373,011 (GRCm39) |
V37A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,441 (GRCm39) |
G1627R |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,643 (GRCm39) |
I235V |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,128 (GRCm39) |
|
probably null |
Het |
| Ndufa12 |
A |
T |
10: 94,056,680 (GRCm39) |
K136M |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,944 (GRCm39) |
L146P |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,427 (GRCm39) |
S268T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,622,734 (GRCm39) |
S155N |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,173 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,073,599 (GRCm39) |
D410G |
probably damaging |
Het |
| Pcyox1l |
T |
A |
18: 61,830,939 (GRCm39) |
N311I |
probably benign |
Het |
| Pif1 |
A |
G |
9: 65,495,058 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
CTCTTCTT |
CTCTT |
1: 135,803,362 (GRCm39) |
|
probably null |
Het |
| Pogz |
G |
A |
3: 94,763,374 (GRCm39) |
V49I |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sgms2 |
A |
C |
3: 131,118,665 (GRCm39) |
Y273D |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,915 (GRCm39) |
V203I |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,639,328 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
A |
G |
2: 30,025,450 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,007,526 (GRCm39) |
N526S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,191,324 (GRCm39) |
D1037N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,394,078 (GRCm39) |
I551L |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,196,100 (GRCm39) |
I308M |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,409,778 (GRCm39) |
I3488V |
unknown |
Het |
| Zgrf1 |
A |
T |
3: 127,389,578 (GRCm39) |
I375F |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,315 (GRCm39) |
K183R |
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 |
|
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'- AACTGCCTCTTAGGTCCTTAAAG -3'
(R):5'- TGCCATAAAAGTAGTCTGTACACC -3'
Sequencing Primer
(F):5'- AGGTCCTTAAAGTCTGCTTGTGAC -3'
(R):5'- GGCAACTGGCTATACATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation