Incidental Mutation 'R6977:Lamp1'
ID 542509
Institutional Source Beutler Lab
Gene Symbol Lamp1
Ensembl Gene ENSMUSG00000031447
Gene Name lysosomal-associated membrane protein 1
Synonyms Lamp-1, Perk, CD107a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6977 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 13209161-13225338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13223661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 293 (V293A)
Ref Sequence ENSEMBL: ENSMUSP00000033824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317] [ENSMUST00000211128]
AlphaFold P11438
Predicted Effect probably damaging
Transcript: ENSMUST00000033824
AA Change: V293A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: V293A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
TBC 71 287 2.03e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209516
Predicted Effect probably benign
Transcript: ENSMUST00000209691
Predicted Effect probably benign
Transcript: ENSMUST00000209895
Predicted Effect probably benign
Transcript: ENSMUST00000210317
Predicted Effect probably benign
Transcript: ENSMUST00000211128
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik G A 13: 59,839,394 (GRCm39) S17L possibly damaging Het
Acap2 G T 16: 30,936,079 (GRCm39) T336K probably damaging Het
Angptl7 A T 4: 148,581,850 (GRCm39) W179R probably damaging Het
Atp9b A G 18: 80,796,317 (GRCm39) F909L probably damaging Het
BC051665 A T 13: 60,932,486 (GRCm39) Y66* probably null Het
C8b A G 4: 104,644,193 (GRCm39) T287A possibly damaging Het
Camk2a G A 18: 61,093,076 (GRCm39) G301E probably damaging Het
Ccdc186 A G 19: 56,787,219 (GRCm39) M583T probably benign Het
Cd55b T A 1: 130,347,528 (GRCm39) K94N probably damaging Het
Celsr3 T C 9: 108,704,914 (GRCm39) S466P probably benign Het
Cep152 A G 2: 125,410,742 (GRCm39) probably null Het
Cep70 A G 9: 99,173,729 (GRCm39) D420G probably damaging Het
Cnih4 T C 1: 180,989,713 (GRCm39) S48P possibly damaging Het
Cpne8 T C 15: 90,381,294 (GRCm39) K507E probably benign Het
Cyp2b23 T C 7: 26,380,745 (GRCm39) Y160C possibly damaging Het
Dnah9 C A 11: 65,998,735 (GRCm39) M1104I probably benign Het
Fam135a T A 1: 24,093,179 (GRCm39) N149I probably damaging Het
Fbxl4 A T 4: 22,376,930 (GRCm39) Q122L probably benign Het
Gm11232 T C 4: 71,676,178 (GRCm39) probably benign Het
Gm5901 A G 7: 105,026,367 (GRCm39) Y45C probably benign Het
Gsap A T 5: 21,476,219 (GRCm39) I553F probably damaging Het
Ifih1 A G 2: 62,436,530 (GRCm39) F631S probably damaging Het
Kics2 A G 10: 121,581,371 (GRCm39) H124R probably damaging Het
Kif21a T C 15: 90,865,040 (GRCm39) D544G probably damaging Het
Klc2 G A 19: 5,159,393 (GRCm39) R552C probably damaging Het
Muc16 T A 9: 18,556,633 (GRCm39) D3220V unknown Het
Myb A T 10: 21,028,551 (GRCm39) I104K probably damaging Het
Mycbp2 C A 14: 103,392,342 (GRCm39) R3227L probably damaging Het
Ncapd2 A T 6: 125,148,472 (GRCm39) L1053Q probably damaging Het
Nelfe T A 17: 35,073,688 (GRCm39) V316E probably damaging Het
Noxred1 T C 12: 87,268,091 (GRCm39) I347V probably null Het
Or8g50 A G 9: 39,648,330 (GRCm39) Y73C probably benign Het
Plekha7 A G 7: 115,735,202 (GRCm39) V1033A probably benign Het
Plekhh1 G C 12: 79,112,491 (GRCm39) W589C probably damaging Het
Ppp6r3 A T 19: 3,517,272 (GRCm39) F658L probably damaging Het
Prss55 A G 14: 64,316,785 (GRCm39) M119T probably damaging Het
Rab28 G A 5: 41,855,735 (GRCm39) Q87* probably null Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sdr16c6 A T 4: 4,076,865 (GRCm39) F11L probably benign Het
Serpinb5 T G 1: 106,800,077 (GRCm39) V89G probably benign Het
Slc12a9 A T 5: 137,314,075 (GRCm39) V628E probably damaging Het
Slc25a34 G A 4: 141,347,809 (GRCm39) R291C probably damaging Het
Slmap C T 14: 26,254,574 (GRCm39) R36H probably damaging Het
Sybu A G 15: 44,541,091 (GRCm39) S324P probably benign Het
Syk A T 13: 52,787,094 (GRCm39) M363L probably benign Het
Tecpr2 T C 12: 110,906,200 (GRCm39) V934A probably benign Het
Thpo A G 16: 20,544,433 (GRCm39) L200P probably damaging Het
Tiam2 T A 17: 3,568,934 (GRCm39) S1693R probably damaging Het
Usp48 A G 4: 137,377,671 (GRCm39) D232G probably damaging Het
Wasf1 A G 10: 40,802,581 (GRCm39) S79G probably damaging Het
Zfp90 G T 8: 107,151,948 (GRCm39) D554Y probably damaging Het
Zfp90 A T 8: 107,151,949 (GRCm39) D554V probably damaging Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) probably benign Het
Other mutations in Lamp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7262:Lamp1 UTSW 8 13,217,296 (GRCm39) missense probably benign 0.01
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'- GTGCTAACAGAGGTCTCAGG -3'
(R):5'- AGTGGCCTGAAGAGCTTTC -3'

Sequencing Primer
(F):5'- TTAATCCACGTACCGTACTGAGAGG -3'
(R):5'- AAGAGCTTTCAGTGAATGGTTG -3'
Posted On 2018-11-28