Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Lamp1'

564689

Institutional Source

Beutler Lab

Gene Symbol

Lamp1

Ensembl Gene

ENSMUSG00000031447

Gene Name

lysosomal-associated membrane protein 1

Synonyms

Lamp-1, Perk, CD107a

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13209161-13225338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13217296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 102 (T102S)

Ref Sequence

ENSEMBL: ENSMUSP00000033824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000209895]

AlphaFold

P11438

Predicted Effect

probably benign
Transcript: ENSMUST00000033824
AA Change: T102S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: T102S

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: ENSMUST00000209895

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	probably benign	Het

Other mutations in Lamp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Lamp1	APN	8	13,221,195 (GRCm39)	unclassified	probably benign
IGL01516:Lamp1	APN	8	13,223,863 (GRCm39)	missense	probably damaging	0.98
IGL01541:Lamp1	APN	8	13,215,905 (GRCm39)	missense	probably damaging	1.00
R0106:Lamp1	UTSW	8	13,224,550 (GRCm39)	missense	probably damaging	1.00
R0106:Lamp1	UTSW	8	13,224,550 (GRCm39)	missense	probably damaging	1.00
R0127:Lamp1	UTSW	8	13,224,491 (GRCm39)	missense	probably damaging	1.00
R0744:Lamp1	UTSW	8	13,222,654 (GRCm39)	missense	probably damaging	1.00
R0836:Lamp1	UTSW	8	13,222,654 (GRCm39)	missense	probably damaging	1.00
R1875:Lamp1	UTSW	8	13,217,257 (GRCm39)	missense	probably damaging	1.00
R1945:Lamp1	UTSW	8	13,222,545 (GRCm39)	missense	probably benign	0.40
R2887:Lamp1	UTSW	8	13,223,891 (GRCm39)	missense	probably damaging	1.00
R2888:Lamp1	UTSW	8	13,223,891 (GRCm39)	missense	probably damaging	1.00
R2889:Lamp1	UTSW	8	13,223,891 (GRCm39)	missense	probably damaging	1.00
R2890:Lamp1	UTSW	8	13,223,891 (GRCm39)	missense	probably damaging	1.00
R4235:Lamp1	UTSW	8	13,217,192 (GRCm39)	missense	possibly damaging	0.66
R4817:Lamp1	UTSW	8	13,222,541 (GRCm39)	missense	probably benign	0.43
R5654:Lamp1	UTSW	8	13,221,388 (GRCm39)	splice site	probably null
R5942:Lamp1	UTSW	8	13,223,941 (GRCm39)	missense	probably damaging	1.00
R6538:Lamp1	UTSW	8	13,221,285 (GRCm39)	missense	probably benign	0.00
R6917:Lamp1	UTSW	8	13,222,563 (GRCm39)	missense	probably damaging	1.00
R6977:Lamp1	UTSW	8	13,223,661 (GRCm39)	missense	probably damaging	0.98
R7680:Lamp1	UTSW	8	13,217,812 (GRCm39)	missense	probably benign
R8123:Lamp1	UTSW	8	13,217,158 (GRCm39)	missense	probably benign
R8697:Lamp1	UTSW	8	13,224,448 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGAAGCTCAGTTTCTGTCATTGC -3'
(R):5'- AGGGGACATAGTGGACACTC -3'

Sequencing Primer
(F):5'- CTGTCATTGCGTGCAGGTAAC -3'
(R):5'- ACATAGTGGACACTCGTGTG -3'

Posted On

2019-06-26