Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03228:Lamp3'

413784

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 #

IGL03228

Quality Score

Status

Chromosome

Chromosomal Location

19472131-19525115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19494817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 296 (Y296F)

Ref Sequence

ENSEMBL: ENSMUSP00000080556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081880]

AlphaFold

Q7TST5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081880
AA Change: Y296F

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080556
Gene: ENSMUSG00000041247
AA Change: Y296F

Domain	Start	End	E-Value	Type
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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid3a	G	A	10: 79,786,578 (GRCm39)	V444I	possibly damaging	Het
Catsperg2	T	C	7: 29,397,650 (GRCm39)	Y1021C	probably damaging	Het
Cbx1	A	G	11: 96,691,631 (GRCm39)		probably benign	Het
Cdk15	G	T	1: 59,297,912 (GRCm39)	K106N	possibly damaging	Het
Itpkb	A	T	1: 180,241,564 (GRCm39)	R745W	probably damaging	Het
Kdr	T	A	5: 76,117,708 (GRCm39)	I682F	probably damaging	Het
Klhl1	T	A	14: 96,477,763 (GRCm39)	E435V	probably damaging	Het
Ltb4r2	A	T	14: 55,999,408 (GRCm39)	N10Y	probably damaging	Het
Mmrn1	C	T	6: 60,921,876 (GRCm39)	P111L	probably benign	Het
Nt5c	A	G	11: 115,381,987 (GRCm39)	Y107H	probably damaging	Het
Or2m12	A	C	16: 19,105,140 (GRCm39)	L118V	probably damaging	Het
Or5p53	T	A	7: 107,533,330 (GRCm39)	I201N	possibly damaging	Het
Or8h9	A	G	2: 86,789,050 (GRCm39)	F251L	probably benign	Het
Piezo2	T	A	18: 63,186,133 (GRCm39)	S1679C	probably damaging	Het
Plac8l1	T	A	18: 42,325,672 (GRCm39)	S78C	probably damaging	Het
Scyl2	A	T	10: 89,485,942 (GRCm39)	I549N	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Slc6a20b	G	T	9: 123,461,197 (GRCm39)	Y65*	probably null	Het
Stx11	G	A	10: 12,816,956 (GRCm39)	T256M	probably benign	Het
Syne2	T	C	12: 76,026,686 (GRCm39)	C3505R	probably benign	Het
Trim75	A	G	8: 65,436,006 (GRCm39)	L148P	probably benign	Het
Ubr4	T	A	4: 139,156,909 (GRCm39)	N2311K	probably damaging	Het
Zfp553	A	G	7: 126,835,249 (GRCm39)	H268R	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
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

2016-08-02