Incidental Mutation 'R0419:Lamtor5'
ID 36913
Institutional Source Beutler Lab
Gene Symbol Lamtor5
Ensembl Gene ENSMUSG00000087260
Gene Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
Synonyms 1110003H18Rik, Hbxip
MMRRC Submission 038621-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0419 (G1)
Quality Score 156
Status Validated
Chromosome 3
Chromosomal Location 107186174-107191398 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 107189227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 88 (R88S)
Ref Sequence ENSEMBL: ENSMUSP00000129012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145735] [ENSMUST00000199317]
AlphaFold Q9D1L9
Predicted Effect probably damaging
Transcript: ENSMUST00000145735
AA Change: R88S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129012
Gene: ENSMUSG00000087260
AA Change: R88S

DomainStartEndE-ValueType
Pfam:LAMTOR5 55 142 2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199317
AA Change: R34S

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143494
Gene: ENSMUSG00000087260
AA Change: R34S

DomainStartEndE-ValueType
Pfam:LAMTOR5 1 88 2.1e-37 PFAM
Meta Mutation Damage Score 0.2751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,842 (GRCm39) probably benign Het
5730507C01Rik A T 12: 18,583,424 (GRCm39) R161S possibly damaging Het
Adamts5 T C 16: 85,663,530 (GRCm39) I735V probably benign Het
Arid1a G T 4: 133,408,435 (GRCm39) P2024Q unknown Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
B3galt4 T C 17: 34,169,764 (GRCm39) Y158C probably damaging Het
BC049715 A G 6: 136,817,143 (GRCm39) T128A possibly damaging Het
Btaf1 T A 19: 36,922,629 (GRCm39) I11N probably damaging Het
Cfb T C 17: 35,077,485 (GRCm39) I496V probably damaging Het
Chd8 A T 14: 52,441,517 (GRCm39) H858Q probably benign Het
Chrne T C 11: 70,506,549 (GRCm39) I324V probably benign Het
Clec14a T C 12: 58,314,451 (GRCm39) I390M probably damaging Het
Cpsf3 A G 12: 21,347,800 (GRCm39) Y207C probably damaging Het
Cubn A C 2: 13,474,574 (GRCm39) I410S possibly damaging Het
Cubn T A 2: 13,474,575 (GRCm39) I410F possibly damaging Het
Dlc1 T C 8: 37,050,740 (GRCm39) E997G possibly damaging Het
Emilin1 G T 5: 31,072,366 (GRCm39) V71F probably damaging Het
Esrp2 T C 8: 106,861,307 (GRCm39) E164G probably damaging Het
Fars2 A G 13: 36,721,285 (GRCm39) T410A probably benign Het
Fat3 A G 9: 15,903,552 (GRCm39) V2981A probably damaging Het
Fkbp15 G A 4: 62,244,373 (GRCm39) T472I probably benign Het
Gm6871 A G 7: 41,222,869 (GRCm39) V73A probably benign Het
Gnl2 T G 4: 124,947,320 (GRCm39) S647R probably benign Het
Grb10 T C 11: 11,884,207 (GRCm39) I500V possibly damaging Het
Herc1 T C 9: 66,353,356 (GRCm39) probably benign Het
Iqgap2 A C 13: 95,826,207 (GRCm39) probably null Het
Kcnu1 A T 8: 26,427,646 (GRCm39) N321I probably benign Het
Kif23 G A 9: 61,833,687 (GRCm39) R519* probably null Het
Klhl1 C T 14: 96,619,225 (GRCm39) R224Q probably benign Het
Lama1 T C 17: 68,098,605 (GRCm39) probably null Het
Lamp3 T C 16: 19,492,302 (GRCm39) Y314C probably damaging Het
Nbea G T 3: 55,726,715 (GRCm39) A2088E probably benign Het
Neo1 A G 9: 58,897,463 (GRCm39) probably benign Het
Ntn4 A T 10: 93,518,291 (GRCm39) R199S probably benign Het
Or5ap2 A T 2: 85,680,311 (GRCm39) R172* probably null Het
Plekho2 A G 9: 65,464,334 (GRCm39) S172P possibly damaging Het
Pmp2 T C 3: 10,245,823 (GRCm39) Y129C probably damaging Het
Prss3b T C 6: 41,011,281 (GRCm39) N34D probably benign Het
Ralgapa2 A T 2: 146,270,592 (GRCm39) M578K possibly damaging Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Serpinb11 G A 1: 107,304,590 (GRCm39) W185* probably null Het
Setdb2 A T 14: 59,644,193 (GRCm39) probably null Het
Sirpb1b A T 3: 15,613,656 (GRCm39) V75E probably damaging Het
Slc13a1 A T 6: 24,100,292 (GRCm39) L397Q probably damaging Het
Slc19a1 T A 10: 76,878,742 (GRCm39) I355N probably damaging Het
Slc51a T A 16: 32,295,254 (GRCm39) I275F possibly damaging Het
Spink14 T C 18: 44,164,934 (GRCm39) S84P probably damaging Het
Stx2 A G 5: 129,070,641 (GRCm39) probably benign Het
Tgfbi G T 13: 56,780,006 (GRCm39) probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Upb1 T C 10: 75,248,717 (GRCm39) V79A probably damaging Het
Zdhhc5 A T 2: 84,521,587 (GRCm39) probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp280d T C 9: 72,219,519 (GRCm39) V32A probably benign Het
Other mutations in Lamtor5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Lamtor5 APN 3 107,186,324 (GRCm39) missense probably benign 0.03
R4246:Lamtor5 UTSW 3 107,186,354 (GRCm39) missense probably benign
R5433:Lamtor5 UTSW 3 107,189,323 (GRCm39) missense probably benign 0.09
R7246:Lamtor5 UTSW 3 107,189,336 (GRCm39) missense probably damaging 1.00
R9277:Lamtor5 UTSW 3 107,186,404 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- GCCAGGCTTTCTCACTAATGGACTC -3'
(R):5'- ATGTCCAATGGCTCTGTGGTGC -3'

Sequencing Primer
(F):5'- CCTAAAGGCAAAAAGGCCGT -3'
(R):5'- GGTGCATTGACTAATGAACTACCAC -3'
Posted On 2013-05-09