Incidental Mutation 'IGL01901:Lamp3'
ID 179520
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01901
Quality Score
Status
Chromosome 16
Chromosomal Location 19472131-19525115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19492169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 358 (F358L)
Ref Sequence ENSEMBL: ENSMUSP00000080556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081880]
AlphaFold Q7TST5
Predicted Effect probably damaging
Transcript: ENSMUST00000081880
AA Change: F358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: F358L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Lamp 103 411 5.6e-75 PFAM
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,272,678 (GRCm39) probably benign Het
Aldh1a7 T G 19: 20,695,103 (GRCm39) Y154S probably damaging Het
Casc3 A G 11: 98,713,947 (GRCm39) D393G probably damaging Het
Cd180 A G 13: 102,842,936 (GRCm39) I661V probably benign Het
Cdh1 T C 8: 107,384,392 (GRCm39) S287P probably damaging Het
Clnk T C 5: 38,952,321 (GRCm39) N6S probably damaging Het
Cstdc6 C A 16: 36,154,625 (GRCm39) A11S probably damaging Het
Cyp17a1 C T 19: 46,659,531 (GRCm39) V100M possibly damaging Het
Ddhd2 A G 8: 26,238,621 (GRCm39) V53A probably damaging Het
Elovl7 T A 13: 108,410,927 (GRCm39) probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm14180 A G 11: 99,625,053 (GRCm39) S22P unknown Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Golga5 G A 12: 102,446,061 (GRCm39) probably null Het
Gpr162 A T 6: 124,838,370 (GRCm39) F93L possibly damaging Het
Kcnh8 G A 17: 53,201,148 (GRCm39) probably benign Het
Mdn1 T G 4: 32,669,591 (GRCm39) D409E probably damaging Het
Ms4a10 T C 19: 10,940,374 (GRCm39) D211G probably benign Het
Ms4a3 T C 19: 11,616,630 (GRCm39) E4G possibly damaging Het
Myo15a A G 11: 60,418,260 (GRCm39) probably benign Het
Or2ag16 A G 7: 106,351,752 (GRCm39) V281A possibly damaging Het
Or4c10b A G 2: 89,711,826 (GRCm39) I219V probably damaging Het
Or51aa2 A T 7: 103,188,177 (GRCm39) L88Q probably damaging Het
Or51q1c A G 7: 103,653,274 (GRCm39) H264R probably damaging Het
Or5b12 T C 19: 12,896,947 (GRCm39) H242R probably damaging Het
Or6c217 A G 10: 129,737,722 (GRCm39) F286L probably benign Het
Penk T C 4: 4,134,465 (GRCm39) I61V probably benign Het
Pkhd1 T A 1: 20,290,307 (GRCm39) K2860N probably benign Het
Prtg C T 9: 72,762,348 (GRCm39) P492S probably damaging Het
Spata31e2 A G 1: 26,721,665 (GRCm39) F1172L probably benign Het
Tdrd7 T C 4: 45,989,225 (GRCm39) probably benign Het
Terf2ip A G 8: 112,738,700 (GRCm39) N196S probably benign Het
Tgtp1 T C 11: 48,878,382 (GRCm39) N108D possibly damaging Het
Thumpd3 A G 6: 113,036,932 (GRCm39) H277R probably benign Het
Tshz2 T A 2: 169,727,456 (GRCm39) L215Q possibly damaging Het
Ube3c T A 5: 29,873,005 (GRCm39) V1015E probably damaging Het
Utrn T A 10: 12,516,672 (GRCm39) K2307N probably damaging Het
Vmn1r75 A G 7: 11,614,739 (GRCm39) Y157C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Lamp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07