Incidental Mutation 'IGL01516:Lamp1'
ID90406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lamp1
Ensembl Gene ENSMUSG00000031447
Gene Namelysosomal-associated membrane protein 1
SynonymsLamp-1, CD107a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01516
Quality Score
Status
Chromosome8
Chromosomal Location13159161-13175338 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 13173863 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 332 (H332Y)
Ref Sequence ENSEMBL: ENSMUSP00000033824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317] [ENSMUST00000211128]
Predicted Effect probably damaging
Transcript: ENSMUST00000033824
AA Change: H332Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: H332Y

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 noncoding transcript
Transcript: ENSMUST00000209465
Predicted Effect probably benign
Transcript: ENSMUST00000209516
Predicted Effect probably benign
Transcript: ENSMUST00000209691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209709
Predicted Effect probably benign
Transcript: ENSMUST00000209895
Predicted Effect probably benign
Transcript: ENSMUST00000210317
Predicted Effect probably benign
Transcript: ENSMUST00000211128
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
BC051142 A G 17: 34,449,260 D168G possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Dcxr A G 11: 120,725,758 probably null Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Hspa12a T A 19: 58,827,676 D45V probably benign Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Klk1b22 G T 7: 44,116,308 C196F probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Wapl A G 14: 34,692,081 N300S probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in Lamp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Lamp1 APN 8 13171195 unclassified probably benign
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
R5654:Lamp1 UTSW 8 13171388 splice site probably null
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
Posted On2013-12-09