Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Lamp1'

592703

Institutional Source

Beutler Lab

Gene Symbol

Lamp1

Ensembl Gene

ENSMUSG00000031447

Gene Name

lysosomal-associated membrane protein 1

Synonyms

Lamp-1, Perk, CD107a

MMRRC Submission

045746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13209161-13225338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13217812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 131 (Y131H)

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: Y131H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: Y131H

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,657,958 (GRCm39)	D104G	possibly damaging	Het
Ahi1	G	T	10: 20,883,667 (GRCm39)	C844F	possibly damaging	Het
Bspry	T	C	4: 62,414,828 (GRCm39)	*474Q	probably null	Het
Car9	T	A	4: 43,507,250 (GRCm39)	D65E	probably damaging	Het
Ccdc110	T	A	8: 46,394,688 (GRCm39)	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,853,056 (GRCm39)	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,012,584 (GRCm39)	Q321R	probably damaging	Het
Cic	T	C	7: 24,991,856 (GRCm39)	V2255A	probably damaging	Het
Cmc2	A	T	8: 117,620,849 (GRCm39)	M44K	probably damaging	Het
Crls1	A	G	2: 132,704,258 (GRCm39)	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,323,329 (GRCm39)	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,152,054 (GRCm39)	I301N	probably damaging	Het
Dkk3	A	T	7: 111,718,570 (GRCm39)	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,513,365 (GRCm39)	N1906S	probably benign	Het
Gm13271	T	C	4: 88,673,367 (GRCm39)	V88A	probably benign	Het
Gphn	C	A	12: 78,459,148 (GRCm39)	L79I	probably benign	Het
Gpr15	A	T	16: 58,538,328 (GRCm39)	W254R	probably damaging	Het
H2-M2	T	C	17: 37,793,916 (GRCm39)	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,767,954 (GRCm39)	S1172P	probably benign	Het
Htr1a	A	G	13: 105,581,539 (GRCm39)	S260G	probably benign	Het
Iftap	T	C	2: 101,440,901 (GRCm39)	E34G	probably damaging	Het
Kif21b	G	T	1: 136,075,607 (GRCm39)		probably null	Het
Lrrc47	A	C	4: 154,100,558 (GRCm39)	N378T	probably benign	Het
Manea	A	T	4: 26,340,649 (GRCm39)	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,889,305 (GRCm39)	I888T	probably benign	Het
Mark3	T	C	12: 111,613,207 (GRCm39)	M557T	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myh6	C	A	14: 55,186,190 (GRCm39)	C1413F	possibly damaging	Het
Myorg	C	A	4: 41,497,978 (GRCm39)	D551Y	probably damaging	Het
Ncr1	T	A	7: 4,341,123 (GRCm39)	M38K	possibly damaging	Het
Nid2	A	G	14: 19,829,715 (GRCm39)	T669A	probably damaging	Het
Or6e1	T	A	14: 54,519,837 (GRCm39)	I172F	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekha7	A	G	7: 115,763,511 (GRCm39)	Y364H	probably benign	Het
Plxnb1	T	A	9: 108,929,571 (GRCm39)	Y142*	probably null	Het
Ptprn	T	C	1: 75,224,537 (GRCm39)	I940V	probably benign	Het
Rnf213	T	C	11: 119,370,382 (GRCm39)	V4728A		Het
Samd9l	A	T	6: 3,372,569 (GRCm39)	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469 (GRCm39)	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,066,805 (GRCm39)	D278G	probably benign	Het
Slc35f2	T	A	9: 53,715,396 (GRCm39)	V214E	probably damaging	Het
Slc7a5	A	C	8: 122,634,006 (GRCm39)	S114A	probably damaging	Het
St6galnac3	A	G	3: 152,911,047 (GRCm39)	S305P	probably damaging	Het
Stat1	G	A	1: 52,183,368 (GRCm39)	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 151,014,395 (GRCm39)	C31W	probably damaging	Het
Tnk1	T	C	11: 69,747,571 (GRCm39)	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 84,889,585 (GRCm39)	D637E	probably benign	Het
Ttc17	C	T	2: 94,196,889 (GRCm39)	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,412,284 (GRCm39)	R183*	probably null	Het
Vmn2r78	A	G	7: 86,604,149 (GRCm39)	T776A	probably damaging	Het
Wrap73	A	G	4: 154,241,079 (GRCm39)	E444G	probably benign	Het
Zc3h13	C	T	14: 75,567,955 (GRCm39)	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547 (GRCm39)		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
R7262:Lamp1	UTSW	8	13,217,296 (GRCm39)	missense	probably benign	0.01
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'- GCACATGGCATGGAATTTTCTC -3'
(R):5'- TGTCACCTGAAGCCATGTCAC -3'

Sequencing Primer
(F):5'- AGTCCTGAGATTTACAGCTCAC -3'
(R):5'- TGAAGCCATGTCACTCCAG -3'

Posted On

2019-11-12