Incidental Mutation 'R0744:Lamp1'
ID 70853
Institutional Source Beutler Lab
Gene Symbol Lamp1
Ensembl Gene ENSMUSG00000031447
Gene Name lysosomal-associated membrane protein 1
Synonyms Lamp-1, Perk, CD107a
MMRRC Submission 038925-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0744 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13209161-13225338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13222654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 279 (F279L)
Ref Sequence ENSEMBL: ENSMUSP00000033824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033824] [ENSMUST00000165605] [ENSMUST00000209691] [ENSMUST00000209895] [ENSMUST00000210317]
AlphaFold P11438
Predicted Effect probably damaging
Transcript: ENSMUST00000033824
AA Change: F279L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033824
Gene: ENSMUSG00000031447
AA Change: F279L

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (91/93)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
A930003A15Rik T C 16: 19,702,622 (GRCm39) noncoding transcript Het
Abca8a A T 11: 109,931,390 (GRCm39) D1253E possibly damaging Het
Acsm3 T C 7: 119,376,323 (GRCm39) I350T possibly damaging Het
Adcy9 T C 16: 4,237,135 (GRCm39) D92G possibly damaging Het
Aebp2 T G 6: 140,588,090 (GRCm39) probably null Het
AI987944 T C 7: 41,026,283 (GRCm39) Y6C probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Baiap2l1 T A 5: 144,203,451 (GRCm39) D479V probably benign Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Bptf C A 11: 107,001,638 (GRCm39) probably null Het
Camk4 G T 18: 33,072,507 (GRCm39) S20I unknown Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd209e G T 8: 3,903,205 (GRCm39) D62E probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
Dmxl1 T C 18: 49,966,215 (GRCm39) V20A probably damaging Het
Dzip3 A G 16: 48,780,038 (GRCm39) Y301H probably damaging Het
Ephb4 T A 5: 137,363,929 (GRCm39) N600K probably damaging Het
Erich6 T A 3: 58,543,543 (GRCm39) probably benign Het
Fbn1 T C 2: 125,156,734 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Galnt17 T A 5: 131,179,754 (GRCm39) D131V probably damaging Het
Gm6619 T A 6: 131,467,297 (GRCm39) L54Q probably damaging Het
Herc2 T C 7: 55,855,784 (GRCm39) probably benign Het
Hic1 T A 11: 75,056,627 (GRCm39) Q754L possibly damaging Het
Hnf4g A T 3: 3,716,689 (GRCm39) D286V possibly damaging Het
Iho1 A T 9: 108,282,000 (GRCm39) C563S probably benign Het
Itgb5 A G 16: 33,720,953 (GRCm39) K339R probably damaging Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc58 A G 16: 37,698,935 (GRCm39) probably benign Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mark1 T A 1: 184,653,805 (GRCm39) I166F probably damaging Het
Mark2 A G 19: 7,263,189 (GRCm39) Y193H probably damaging Het
Mast4 C G 13: 102,873,895 (GRCm39) Q1632H probably damaging Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Mgst3 A G 1: 167,201,374 (GRCm39) Y104H probably damaging Het
Mlxipl C T 5: 135,161,329 (GRCm39) T416I possibly damaging Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Muc1 C A 3: 89,137,635 (GRCm39) P159Q possibly damaging Het
Myom2 A T 8: 15,182,924 (GRCm39) K1454* probably null Het
Myt1 TGAGGAGGAGGAGGAGGAGG TGAGGAGGAGGAGGAGG 2: 181,439,298 (GRCm39) probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or2t29 T A 11: 58,433,988 (GRCm39) M105L possibly damaging Het
Or52ae9 T C 7: 103,390,132 (GRCm39) H105R probably damaging Het
Or56b1b T C 7: 108,164,205 (GRCm39) T266A possibly damaging Het
Or8b1c A T 9: 38,384,081 (GRCm39) I13F probably benign Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Pzp A G 6: 128,493,158 (GRCm39) probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapgef3 G A 15: 97,659,466 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rgs11 T A 17: 26,422,292 (GRCm39) M29K probably damaging Het
Rictor A G 15: 6,793,759 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Slc22a28 T C 19: 8,094,197 (GRCm39) Y245C possibly damaging Het
Slc25a1 T A 16: 17,745,300 (GRCm39) H78L probably benign Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Slc51a T A 16: 32,294,667 (GRCm39) T306S probably benign Het
Slc6a13 T G 6: 121,279,826 (GRCm39) W67G probably damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Sp100 A T 1: 85,627,465 (GRCm39) I86L probably damaging Het
Spata31e5 A G 1: 28,816,902 (GRCm39) S377P possibly damaging Het
Supt20 T A 3: 54,622,122 (GRCm39) Y409N probably damaging Het
Synrg C T 11: 83,915,131 (GRCm39) Q1046* probably null Het
Tab2 T C 10: 7,783,345 (GRCm39) probably benign Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tex24 A T 8: 27,834,748 (GRCm39) H92L possibly damaging Het
Tgm6 T C 2: 129,993,681 (GRCm39) V640A probably benign Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Tomm34 T C 2: 163,912,896 (GRCm39) N22D probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Trim62 A G 4: 128,778,008 (GRCm39) S16G probably damaging Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Unc5a C A 13: 55,151,746 (GRCm39) N56K possibly damaging Het
Ush2a C T 1: 188,546,603 (GRCm39) probably benign Het
Wrn A G 8: 33,785,034 (GRCm39) I446T possibly damaging Het
Zbed5 T A 5: 129,931,113 (GRCm39) V354E possibly damaging Het
Zfp266 G A 9: 20,411,095 (GRCm39) H361Y probably 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
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
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'- AGGTGTGGTTAAGGACTCCTCCTG -3'
(R):5'- TGGTACAACCTGGCTTCATGCTC -3'

Sequencing Primer
(F):5'- TAAGGACTCCTCCTGACTTGTTAGAG -3'
(R):5'- GGCTTCATGCTCTGCTCTTTG -3'
Posted On 2013-09-30