Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01516:Lamp1'

90406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lamp1

Ensembl Gene

ENSMUSG00000031447

Gene Name

lysosomal-associated membrane protein 1

Synonyms

Lamp-1, CD107a

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01516

Quality Score

Status

Chromosome

Chromosomal Location

13159161-13175338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13173863 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 332 (H332Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317] [ENSMUST00000211128]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033824
AA Change: H332Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: H332Y

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Lamp	106	406	4.8e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165605

SMART Domains

Protein: ENSMUSP00000130324
Gene: ENSMUSG00000038515

Domain	Start	End	E-Value	Type
TBC	71	287	2.03e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209465

Predicted Effect

probably benign
Transcript: ENSMUST00000209516

Predicted Effect

probably benign
Transcript: ENSMUST00000209691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209709

Predicted Effect

probably benign
Transcript: ENSMUST00000209895

Predicted Effect

probably benign
Transcript: ENSMUST00000210317

Predicted Effect

probably benign
Transcript: ENSMUST00000211128

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,690,734	S95P	probably benign	Het
Abca6	T	A	11: 110,218,217	H709L	possibly damaging	Het
BC051142	A	G	17: 34,449,260	D168G	possibly damaging	Het
Bpifb1	A	G	2: 154,218,252	Y455C	probably benign	Het
Clk1	G	A	1: 58,414,404	T341I	probably damaging	Het
Corin	A	T	5: 72,454,487	Y77*	probably null	Het
Cps1	C	T	1: 67,230,284	R1481C	probably damaging	Het
Cspg5	A	G	9: 110,246,693	K166E	probably benign	Het
Dcxr	A	G	11: 120,725,758		probably null	Het
Epha5	C	A	5: 84,386,276	L65F	probably damaging	Het
Erbb4	T	A	1: 68,328,245	K438*	probably null	Het
Gldc	A	T	19: 30,099,032	C1005S	probably damaging	Het
Hs3st5	C	T	10: 36,833,051	T194I	probably damaging	Het
Hspa12a	T	A	19: 58,827,676	D45V	probably benign	Het
Il1rn	C	T	2: 24,349,539	T130I	probably damaging	Het
Klk1b22	G	T	7: 44,116,308	C196F	probably damaging	Het
Limd2	T	C	11: 106,159,044	T40A	probably benign	Het
Lztr1	G	A	16: 17,522,391		probably null	Het
Mbd4	T	C	6: 115,849,530	T167A	probably damaging	Het
Mitf	T	A	6: 98,010,390		probably null	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Mrgprb5	A	T	7: 48,168,384	L201Q	probably damaging	Het
Myo5b	A	T	18: 74,627,195	I261F	probably damaging	Het
Olfr1413	A	T	1: 92,573,443	I91F	probably benign	Het
Olfr918	C	T	9: 38,672,863	V207I	probably benign	Het
Paics	T	A	5: 76,956,731	L68I	probably damaging	Het
Pramef20	A	G	4: 144,377,767	V56A	probably damaging	Het
Prkca	C	T	11: 107,961,602	V102M	probably null	Het
Ptpn21	G	A	12: 98,715,189	T62I	probably damaging	Het
Ptpre	A	T	7: 135,664,999	E212V	probably damaging	Het
Rufy2	A	C	10: 63,011,433	K539Q	possibly damaging	Het
Serpinb9d	T	A	13: 33,202,671		probably null	Het
Smarcd1	T	C	15: 99,712,213	F442L	probably benign	Het
Tas2r115	A	G	6: 132,737,613	V125A	probably damaging	Het
Tmem154	C	T	3: 84,684,590	H120Y	probably benign	Het
Tnrc6b	A	G	15: 80,902,622	K1321E	possibly damaging	Het
Trmt13	A	G	3: 116,589,810		probably benign	Het
Vmn1r19	T	C	6: 57,404,872	F137L	probably benign	Het
Vmn1r202	T	A	13: 22,501,462	T262S	possibly damaging	Het
Vmn2r57	A	G	7: 41,399,946	V793A	probably damaging	Het
Wapl	A	G	14: 34,692,081	N300S	probably damaging	Het
Xpot	T	A	10: 121,590,222		probably null	Het
Zfp784	G	A	7: 5,036,037		probably benign	Het
Zfyve26	G	T	12: 79,287,851	P131Q	probably benign	Het

Other mutations in Lamp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Lamp1	APN	8	13171195	unclassified	probably benign
IGL01541:Lamp1	APN	8	13165905	missense	probably damaging	1.00
R0106:Lamp1	UTSW	8	13174550	missense	probably damaging	1.00
R0106:Lamp1	UTSW	8	13174550	missense	probably damaging	1.00
R0127:Lamp1	UTSW	8	13174491	missense	probably damaging	1.00
R0744:Lamp1	UTSW	8	13172654	missense	probably damaging	1.00
R0836:Lamp1	UTSW	8	13172654	missense	probably damaging	1.00
R1875:Lamp1	UTSW	8	13167257	missense	probably damaging	1.00
R1945:Lamp1	UTSW	8	13172545	missense	probably benign	0.40
R2887:Lamp1	UTSW	8	13173891	missense	probably damaging	1.00
R2888:Lamp1	UTSW	8	13173891	missense	probably damaging	1.00
R2889:Lamp1	UTSW	8	13173891	missense	probably damaging	1.00
R2890:Lamp1	UTSW	8	13173891	missense	probably damaging	1.00
R4235:Lamp1	UTSW	8	13167192	missense	possibly damaging	0.66
R4817:Lamp1	UTSW	8	13172541	missense	probably benign	0.43
R5654:Lamp1	UTSW	8	13171388	splice site	probably null
R5942:Lamp1	UTSW	8	13173941	missense	probably damaging	1.00
R6538:Lamp1	UTSW	8	13171285	missense	probably benign	0.00
R6917:Lamp1	UTSW	8	13172563	missense	probably damaging	1.00
R6977:Lamp1	UTSW	8	13173661	missense	probably damaging	0.98
R7262:Lamp1	UTSW	8	13167296	missense	probably benign	0.01
R7680:Lamp1	UTSW	8	13167812

Posted On

2013-12-09