Incidental Mutation 'R7866:Lamp3'
| ID |
607804 |
| 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 |
045918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19472131-19525115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19518490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 249
(D249V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081880]
|
| AlphaFold |
Q7TST5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081880
AA Change: D249V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: D249V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,317,269 (GRCm39) |
R194* |
probably null |
Het |
| Actl6a |
A |
G |
3: 32,766,262 (GRCm39) |
T39A |
possibly damaging |
Het |
| Adamts6 |
T |
A |
13: 104,550,257 (GRCm39) |
C624* |
probably null |
Het |
| Adgrl1 |
T |
C |
8: 84,664,564 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
A |
G |
8: 23,289,674 (GRCm39) |
V143A |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,489,424 (GRCm39) |
V91E |
probably damaging |
Het |
| Atp6v0b |
A |
T |
4: 117,742,350 (GRCm39) |
I181N |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,322,241 (GRCm39) |
M632K |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,672,604 (GRCm39) |
|
probably null |
Het |
| Cidea |
G |
A |
18: 67,491,854 (GRCm39) |
R38Q |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,042 (GRCm39) |
I86T |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,252,016 (GRCm39) |
D557E |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,566,760 (GRCm39) |
Y2245C |
probably damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,725,092 (GRCm39) |
N196Y |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,716,113 (GRCm39) |
T267A |
|
Het |
| Dtx3l |
T |
A |
16: 35,759,120 (GRCm39) |
Q43L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,738 (GRCm39) |
S59P |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,758,126 (GRCm39) |
T435A |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,333,925 (GRCm39) |
F1090I |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,356,228 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,378,050 (GRCm39) |
Q89* |
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,063 (GRCm39) |
V882E |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,532,804 (GRCm39) |
M1K |
probably null |
Het |
| Ift70b |
A |
G |
2: 75,766,963 (GRCm39) |
S597P |
possibly damaging |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,025 (GRCm39) |
D90V |
possibly damaging |
Het |
| Igkv4-54 |
G |
A |
6: 69,608,740 (GRCm39) |
R60C |
probably benign |
Het |
| Igkv7-33 |
G |
T |
6: 70,035,847 (GRCm39) |
A45D |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,762,168 (GRCm39) |
I15F |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,022,149 (GRCm39) |
V125A |
possibly damaging |
Het |
| Mprip |
G |
A |
11: 59,643,756 (GRCm39) |
R638H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,589 (GRCm39) |
M501V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,111,034 (GRCm39) |
P1509S |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,258,554 (GRCm39) |
Y63C |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,259,852 (GRCm39) |
V517A |
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,906,027 (GRCm39) |
S235T |
not run |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,512 (GRCm39) |
F281I |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,809,881 (GRCm39) |
Q3520K |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,525 (GRCm39) |
I127N |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,655,390 (GRCm39) |
N319I |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,686,665 (GRCm39) |
S386P |
possibly damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,714,738 (GRCm39) |
V104I |
probably benign |
Het |
| Rp1 |
C |
T |
1: 4,417,924 (GRCm39) |
V1063I |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,532 (GRCm39) |
F376Y |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,527,724 (GRCm39) |
I277N |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,406 (GRCm39) |
|
probably null |
Het |
| Tex29 |
A |
G |
8: 11,894,055 (GRCm39) |
N6D |
unknown |
Het |
| Top6bl |
T |
A |
19: 4,748,514 (GRCm39) |
R61S |
unknown |
Het |
| Ttc6 |
G |
A |
12: 57,721,435 (GRCm39) |
A975T |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,320,560 (GRCm39) |
E13G |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,211,927 (GRCm39) |
C98G |
possibly damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,240,190 (GRCm39) |
D65V |
probably damaging |
Het |
| Unc93b1 |
A |
T |
19: 3,985,243 (GRCm39) |
D17V |
not run |
Het |
| Usf1 |
G |
T |
1: 171,245,462 (GRCm39) |
W291C |
unknown |
Het |
| Vps29 |
T |
C |
5: 122,500,180 (GRCm39) |
W97R |
possibly damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,577 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,629 (GRCm39) |
D191A |
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 |
|
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 |
|
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'- AGCCTTGCTAGAGGTAATCAC -3'
(R):5'- GTCACACAATTGGGGAGTTTG -3'
Sequencing Primer
(F):5'- CCTTGCTAGAGGTAATCACTGTGAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation