Mutagenetix > Incidental Mutations

Incidental Mutation 'R5654:Lamp1'

442177

Institutional Source

Beutler Lab

Gene Symbol

Lamp1

Ensembl Gene

ENSMUSG00000031447

Gene Name

lysosomal-associated membrane protein 1

Synonyms

Lamp-1, CD107a

MMRRC Submission

043300-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13159161-13175338 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 13171388 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033824 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000033824

SMART Domains

Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209709

Predicted Effect

probably benign
Transcript: ENSMUST00000209895

Predicted Effect

probably benign
Transcript: ENSMUST00000210317

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,174,835		probably null	Het
Abcc9	G	A	6: 142,625,645		probably benign	Het
Acss2	T	C	2: 155,574,655		probably benign	Het
Atp8b4	G	A	2: 126,375,805	T597I	probably damaging	Het
Btaf1	A	T	19: 36,983,615	N796I	probably benign	Het
Caskin2	T	C	11: 115,800,079		probably null	Het
Cdhr2	A	G	13: 54,736,536	N1295D	probably benign	Het
Cog3	G	A	14: 75,724,799	T534M	probably benign	Het
Cpne1	A	G	2: 156,077,641	S303P	probably damaging	Het
Cs	G	A	10: 128,351,217	G74S	possibly damaging	Het
Cyb5r4	G	T	9: 87,047,480	S229I	probably damaging	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Ect2l	C	T	10: 18,143,062	V529M	probably damaging	Het
Edaradd	C	A	13: 12,478,280	R177L	possibly damaging	Het
Esf1	T	C	2: 140,164,228	D333G	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fbxl18	A	G	5: 142,885,803	I559T	probably damaging	Het
Fcrls	A	C	3: 87,257,544	V225G	probably benign	Het
Ido1	C	T	8: 24,587,803	V83M	probably damaging	Het
Iffo1	T	G	6: 125,153,067	C419G	probably damaging	Het
Igfals	A	T	17: 24,881,465	Y510F	probably benign	Het
Ipo9	A	T	1: 135,385,472	Y1006*	probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jmjd1c	T	A	10: 67,230,006	S1737T	probably benign	Het
Klhl32	C	T	4: 24,800,805		probably null	Het
Klk11	T	A	7: 43,778,386	C173S	probably damaging	Het
Klk1b24	A	T	7: 44,191,465	M106L	probably benign	Het
Mapk4	A	T	18: 73,970,294	V48E	probably damaging	Het
March6	A	T	15: 31,485,936	D395E	probably damaging	Het
Mdp1	A	G	14: 55,659,008	F157S	probably damaging	Het
Mettl21e	A	T	1: 44,211,095	F50L	probably damaging	Het
Mrgpra2a	A	G	7: 47,427,405	I35T	probably benign	Het
Natd1	T	C	11: 60,906,066	Y91C	probably damaging	Het
Nbas	T	A	12: 13,583,475	Y2294N	probably damaging	Het
Nrcam	A	G	12: 44,564,058	T520A	probably benign	Het
Nrf1	A	G	6: 30,117,062	T324A	probably benign	Het
Olfr1029	A	G	2: 85,976,156	I304M	probably benign	Het
Olfr1301	T	A	2: 111,754,981	I244N	probably damaging	Het
Olfr68	A	C	7: 103,777,975	D123E	probably damaging	Het
Olfr714	G	A	7: 107,074,187	A120T	probably damaging	Het
Pam	C	T	1: 97,864,398	V433I	probably benign	Het
Park2	C	T	17: 11,237,649	A119V	probably damaging	Het
Pck1	T	A	2: 173,158,560	Y595N	probably damaging	Het
Per2	C	T	1: 91,445,501		probably null	Het
Piezo2	G	C	18: 63,145,091	F247L	possibly damaging	Het
Pkdcc	A	G	17: 83,215,908	Y148C	probably damaging	Het
Plod2	A	G	9: 92,593,823	T320A	probably benign	Het
Ppip5k1	G	A	2: 121,316,676	R1155C	probably benign	Het
Ppp1r15b	C	T	1: 133,131,644		probably benign	Het
Ptprz1	G	T	6: 22,986,134	C311F	probably damaging	Het
Rab11fip3	A	T	17: 26,016,064	V44E	probably damaging	Het
Rpl5	T	A	5: 107,903,648		probably benign	Het
Rttn	G	A	18: 89,048,432	V1201I	probably benign	Het
Sdk1	A	G	5: 141,936,098	N283S	probably damaging	Het
Shank3	T	A	15: 89,521,326	N418K	probably benign	Het
Shmt2	T	C	10: 127,517,799	D499G	probably benign	Het
Slc25a46	A	G	18: 31,583,240	L403S	probably damaging	Het
Slc5a1	A	G	5: 33,146,611	T257A	probably benign	Het
Snrnp35	T	C	5: 124,490,472	V116A	probably benign	Het
Spag9	T	A	11: 94,090,712	F593I	probably damaging	Het
Tmem171	C	A	13: 98,692,066	R192L	probably benign	Het
Trappc3l	T	A	10: 34,102,707	L169Q	unknown	Het
Ube2s	T	C	7: 4,808,432	E148G	probably damaging	Het
Uspl1	T	C	5: 149,209,711	F424S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,261	V60A	probably benign	Het
Wdfy4	T	C	14: 33,107,618		probably null	Het
Zfp735	C	T	11: 73,712,138	S636L	possibly damaging	Het
Zswim9	G	A	7: 13,261,168	S354F	probably damaging	Het

Other mutations in Lamp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Lamp1	APN	8	13171195	unclassified	probably benign
IGL01516:Lamp1	APN	8	13173863	missense	probably damaging	0.98
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
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	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAACTGCCCTTCCAACTG -3'
(R):5'- TGCCAAGTTAGCTAGCATCTTGG -3'

Sequencing Primer
(F):5'- TGTCCCTACAGAGACACACTG -3'
(R):5'- CAAGTTAGCTAGCATCTTGGGCTTTC -3'

Posted On

2016-11-09