Incidental Mutation 'R8123:Lamp1'
ID 631608
Institutional Source Beutler Lab
Gene Symbol Lamp1
Ensembl Gene ENSMUSG00000031447
Gene Name lysosomal-associated membrane protein 1
Synonyms Lamp-1, Perk, CD107a
MMRRC Submission 067552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8123 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13209161-13225338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13217158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 56 (I56V)
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: I56V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: I56V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Lamp 106 406 4.8e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209895
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.0%
  • 20x: 97.1%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,805,272 (GRCm39) V79F probably damaging Het
Acvr2a T C 2: 48,763,384 (GRCm39) S143P probably damaging Het
Adam22 T A 5: 8,142,833 (GRCm39) probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ankhd1 T C 18: 36,708,136 (GRCm39) F60S Het
Cacna1s A T 1: 136,035,917 (GRCm39) I1386F probably damaging Het
Cav2 T A 6: 17,286,992 (GRCm39) C145* probably null Het
Cc2d2a A T 5: 43,867,896 (GRCm39) T847S probably benign Het
Ces2g T A 8: 105,693,555 (GRCm39) M412K probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,179,704 (GRCm39) V746A probably damaging Het
Dnm3 A G 1: 161,838,672 (GRCm39) S230P probably benign Het
Dph3 T C 14: 31,805,157 (GRCm39) K77R probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fcgr4 A G 1: 170,847,572 (GRCm39) I57V probably benign Het
Fhad1 A T 4: 141,712,836 (GRCm39) I201K probably benign Het
Foxc2 C T 8: 121,843,601 (GRCm39) A83V probably damaging Het
Garnl3 T C 2: 32,994,950 (GRCm39) K20E probably damaging Het
Gtf2e1 A T 16: 37,336,105 (GRCm39) Y290N possibly damaging Het
Gtf3c1 A G 7: 125,303,196 (GRCm39) probably benign Het
Itga4 G A 2: 79,146,027 (GRCm39) S743N probably benign Het
Lipt2 A G 7: 99,808,586 (GRCm39) D33G probably benign Het
Mat2a A G 6: 72,411,321 (GRCm39) probably null Het
Myh2 A G 11: 67,064,135 (GRCm39) E65G probably benign Het
Nedd4l T C 18: 65,207,845 (GRCm39) L58P probably damaging Het
Ngly1 T A 14: 16,260,799 (GRCm38) M161K probably benign Het
Nod1 C T 6: 54,914,391 (GRCm39) G801R probably damaging Het
Npy1r A T 8: 67,157,619 (GRCm39) I310F probably damaging Het
Or14j2 G C 17: 37,885,653 (GRCm39) H220Q probably benign Het
Or5k1b T A 16: 58,581,537 (GRCm39) M1L possibly damaging Het
Pde3a A T 6: 141,411,917 (GRCm39) Y497F probably benign Het
Pecr A T 1: 72,314,094 (GRCm39) S153T probably benign Het
Pi4ka A G 16: 17,098,956 (GRCm39) V1976A Het
Plrg1 G A 3: 82,973,237 (GRCm39) A181T probably benign Het
Pou2f2 T C 7: 24,796,433 (GRCm39) K322R possibly damaging Het
Ppp1r17 T A 6: 55,999,443 (GRCm39) D25E probably damaging Het
Radil A C 5: 142,473,375 (GRCm39) Y769D probably damaging Het
Ric8b A G 10: 84,805,737 (GRCm39) N283D probably damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Traj39 G A 14: 54,417,451 (GRCm39) G11R Het
Ugt2b36 G A 5: 87,240,295 (GRCm39) P30L probably damaging Het
Vipr1 C A 9: 121,498,518 (GRCm39) P423T probably damaging Het
Vps13a T C 19: 16,625,066 (GRCm39) E2731G probably benign Het
Zfp451 A T 1: 33,801,248 (GRCm39) M1056K possibly damaging 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
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
R7680:Lamp1 UTSW 8 13,217,812 (GRCm39) missense probably benign
R8697:Lamp1 UTSW 8 13,224,448 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CACATTGTTTGCATGCATTGAG -3'
(R):5'- ATGGCATTGGGAAAATGTTCTG -3'

Sequencing Primer
(F):5'- GCATGCATTGAGTTATAGTCCAG -3'
(R):5'- GGGAAAATGTTCTGTATCTGACAAG -3'
Posted On 2020-06-30