Incidental Mutation 'IGL01552:Lamtor5'
ID 90605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lamtor5
Ensembl Gene ENSMUSG00000087260
Gene Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
Synonyms 1110003H18Rik, Hbxip
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01552
Quality Score
Status
Chromosome 3
Chromosomal Location 107186174-107191398 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107186324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
Ref Sequence ENSEMBL: ENSMUSP00000129012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145735] [ENSMUST00000199317]
AlphaFold Q9D1L9
Predicted Effect probably benign
Transcript: ENSMUST00000145735
AA Change: V31A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129012
Gene: ENSMUSG00000087260
AA Change: V31A

DomainStartEndE-ValueType
Pfam:LAMTOR5 55 142 2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199317
SMART Domains Protein: ENSMUSP00000143494
Gene: ENSMUSG00000087260

DomainStartEndE-ValueType
Pfam:LAMTOR5 1 88 2.1e-37 PFAM
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl8a T C 1: 135,080,606 (GRCm39) probably null Het
Bivm A G 1: 44,165,933 (GRCm39) N128D probably benign Het
Cfhr4 A G 1: 139,667,040 (GRCm39) Y412H probably damaging Het
Chil3 C A 3: 106,056,164 (GRCm39) G330V probably damaging Het
Dscaml1 A G 9: 45,359,206 (GRCm39) H155R probably damaging Het
Elapor1 A G 3: 108,388,628 (GRCm39) W252R possibly damaging Het
Etl4 T A 2: 20,783,000 (GRCm39) V687D probably damaging Het
Fbxw10 A T 11: 62,748,510 (GRCm39) probably null Het
Gfpt2 G T 11: 49,695,832 (GRCm39) E21* probably null Het
Gm10197 C T 19: 53,360,122 (GRCm39) V26I possibly damaging Het
Golim4 T C 3: 75,863,502 (GRCm39) E35G probably damaging Het
Igdcc4 A G 9: 65,029,784 (GRCm39) probably benign Het
Ino80d A G 1: 63,097,136 (GRCm39) probably benign Het
Ipo13 A G 4: 117,758,161 (GRCm39) M734T probably benign Het
Klk1b27 C T 7: 43,704,039 (GRCm39) L61F probably damaging Het
Lrp1 A T 10: 127,424,379 (GRCm39) L769* probably null Het
Nipsnap1 A T 11: 4,839,124 (GRCm39) S135C probably damaging Het
Or4k35 C A 2: 111,100,257 (GRCm39) G152C probably damaging Het
Pparg A T 6: 115,467,083 (GRCm39) H452L probably benign Het
Rab34 C T 11: 78,082,264 (GRCm39) A202V probably damaging Het
Ryr3 T A 2: 112,656,228 (GRCm39) T1923S possibly damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sh2d4b T C 14: 40,582,605 (GRCm39) Q195R probably benign Het
Sik2 C A 9: 50,828,822 (GRCm39) probably benign Het
Slc25a36 A G 9: 96,961,286 (GRCm39) V111A probably benign Het
Slco1a8 T C 6: 141,933,432 (GRCm39) K451R possibly damaging Het
Sptbn5 A T 2: 119,884,903 (GRCm39) probably benign Het
Tac2 G A 10: 127,561,970 (GRCm39) E25K possibly damaging Het
Tnc A G 4: 63,888,645 (GRCm39) V1807A probably damaging Het
Top3b T C 16: 16,705,687 (GRCm39) probably benign Het
Zfp827 A G 8: 79,802,820 (GRCm39) E464G probably damaging Het
Other mutations in Lamtor5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0419:Lamtor5 UTSW 3 107,189,227 (GRCm39) missense probably damaging 0.96
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
Posted On 2013-12-09