Incidental Mutation 'IGL01418:Lactb'
ID 80299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lactb
Ensembl Gene ENSMUSG00000032370
Gene Name lactamase, beta
Synonyms Mrpl56
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01418
Quality Score
Status
Chromosome 9
Chromosomal Location 66862668-66882706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66875045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 349 (D349G)
Ref Sequence ENSEMBL: ENSMUSP00000034929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034929] [ENSMUST00000215172]
AlphaFold Q9EP89
Predicted Effect possibly damaging
Transcript: ENSMUST00000034929
AA Change: D349G

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034929
Gene: ENSMUSG00000032370
AA Change: D349G

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Pfam:Beta-lactamase 110 253 1.4e-33 PFAM
Pfam:Beta-lactamase 285 542 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215172
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 mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,655 (GRCm39) H190L probably benign Het
Apoo-ps T A 13: 107,551,032 (GRCm39) noncoding transcript Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ceacam5 G A 7: 17,479,524 (GRCm39) A214T probably damaging Het
Cfap221 T A 1: 119,912,801 (GRCm39) H91L possibly damaging Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Ctcfl T C 2: 172,960,124 (GRCm39) E153G probably benign Het
Cubn C T 2: 13,288,852 (GRCm39) V3374I probably benign Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dnah11 C T 12: 117,951,217 (GRCm39) W1126* probably null Het
E130311K13Rik A C 3: 63,827,683 (GRCm39) L141R possibly damaging Het
Ercc5 A G 1: 44,206,440 (GRCm39) K451R probably benign Het
Fbxo34 T A 14: 47,768,241 (GRCm39) C585S possibly damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Itpr1 T A 6: 108,316,585 (GRCm39) probably null Het
Lrp2 C T 2: 69,355,630 (GRCm39) V405I probably benign Het
Map1b A T 13: 99,568,338 (GRCm39) I1461K unknown Het
Mdh2 T A 5: 135,814,879 (GRCm39) I116N probably damaging Het
Nek5 A C 8: 22,585,285 (GRCm39) I364S probably damaging Het
Nr2c1 A T 10: 94,026,552 (GRCm39) M476L probably damaging Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Or1d2 T C 11: 74,255,810 (GRCm39) V105A possibly damaging Het
Or4k42 T C 2: 111,319,984 (GRCm39) E173G probably benign Het
Or5w19 T C 2: 87,698,809 (GRCm39) V158A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Phf10 C A 17: 15,165,396 (GRCm39) V487L probably benign Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Slc5a8 G T 10: 88,740,895 (GRCm39) C270F probably damaging Het
Slfn8 T C 11: 82,895,462 (GRCm39) D448G probably damaging Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Zfp507 T A 7: 35,493,237 (GRCm39) probably null Het
Other mutations in Lactb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Lactb APN 9 66,878,180 (GRCm39) missense probably damaging 1.00
R0483:Lactb UTSW 9 66,878,145 (GRCm39) missense possibly damaging 0.92
R0523:Lactb UTSW 9 66,877,974 (GRCm39) missense probably benign 0.07
R0644:Lactb UTSW 9 66,863,172 (GRCm39) missense possibly damaging 0.92
R1395:Lactb UTSW 9 66,878,661 (GRCm39) splice site probably benign
R1413:Lactb UTSW 9 66,878,201 (GRCm39) missense probably damaging 1.00
R5059:Lactb UTSW 9 66,882,426 (GRCm39) missense probably benign 0.00
R5381:Lactb UTSW 9 66,863,297 (GRCm39) missense probably damaging 1.00
R5704:Lactb UTSW 9 66,863,058 (GRCm39) nonsense probably null
R6115:Lactb UTSW 9 66,874,969 (GRCm39) missense possibly damaging 0.93
R6415:Lactb UTSW 9 66,877,927 (GRCm39) missense possibly damaging 0.46
R6513:Lactb UTSW 9 66,878,172 (GRCm39) missense probably damaging 1.00
R8858:Lactb UTSW 9 66,863,182 (GRCm39) nonsense probably null
R9057:Lactb UTSW 9 66,874,977 (GRCm39) missense possibly damaging 0.80
R9266:Lactb UTSW 9 66,878,499 (GRCm39) missense possibly damaging 0.83
X0023:Lactb UTSW 9 66,863,301 (GRCm39) missense probably damaging 1.00
X0067:Lactb UTSW 9 66,875,007 (GRCm39) missense possibly damaging 0.71
Y5406:Lactb UTSW 9 66,863,437 (GRCm39) nonsense probably null
Posted On 2013-11-05