Incidental Mutation 'IGL00595:Lactb2'
ID7531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lactb2
Ensembl Gene ENSMUSG00000025937
Gene Namelactamase, beta 2
SynonymsE430032H21Rik, Cgi-83
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL00595
Quality Score
Status
Chromosome1
Chromosomal Location13623330-13660546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13630126 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 227 (L227S)
Ref Sequence ENSEMBL: ENSMUSP00000027071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027071]
Predicted Effect probably benign
Transcript: ENSMUST00000027071
AA Change: L227S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027071
Gene: ENSMUSG00000025937
AA Change: L227S

DomainStartEndE-ValueType
Lactamase_B 30 199 6.69e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156222
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null allele exhibit at 40 days of age preceeded by decreased body size, lethargy, enlarged and pale liver and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G A 10: 28,973,958 R161* probably null Het
2610002M06Rik A G X: 107,787,844 S189P probably damaging Het
Adam20 T A 8: 40,796,047 F398Y probably benign Het
Ano1 T A 7: 144,638,513 I374F probably damaging Het
Apol10a A T 15: 77,484,935 N45Y probably null Het
Asnsd1 A G 1: 53,347,488 S327P probably damaging Het
Ccdc83 T A 7: 90,244,044 K168N probably damaging Het
Dpysl4 G T 7: 139,096,176 V274F probably damaging Het
Fxr2 T G 11: 69,649,192 S292A probably benign Het
Gm15130 T A 2: 111,138,977 D132V unknown Het
Gpr161 A G 1: 165,318,803 H436R probably benign Het
Jaml C T 9: 45,100,989 probably benign Het
Kcnc2 A T 10: 112,461,988 S606C probably damaging Het
Kcnc2 G T 10: 112,461,987 E605D probably benign Het
Kcnrg T C 14: 61,607,910 I133T probably damaging Het
Kdm7a A G 6: 39,144,510 I837T probably benign Het
Lats1 T G 10: 7,702,305 S398A probably benign Het
Llgl2 T A 11: 115,834,884 D19E probably benign Het
Nup107 T C 10: 117,773,368 probably null Het
Nup107 A T 10: 117,773,352 C365* probably null Het
Plekhf2 T C 4: 10,991,022 K107E probably damaging Het
Rnf139 A T 15: 58,898,542 I139F possibly damaging Het
Rsbn1 A G 3: 103,928,690 N348S probably benign Het
Rttn A T 18: 88,974,340 Q136H probably benign Het
Syne2 C T 12: 75,925,646 T1052I possibly damaging Het
Tom1l1 A T 11: 90,674,740 L101Q probably damaging Het
Tubal3 A G 13: 3,933,015 N265S probably damaging Het
Zfp141 T C 7: 42,476,655 N131S probably benign Het
Zfp944 T C 17: 22,339,205 S354G probably benign Het
Zfp961 G A 8: 71,968,428 A262T probably damaging Het
Other mutations in Lactb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Lactb2 APN 1 13660374 missense probably damaging 1.00
IGL00730:Lactb2 APN 1 13647516 splice site probably benign
R0371:Lactb2 UTSW 1 13650760 missense possibly damaging 0.69
R0782:Lactb2 UTSW 1 13647451 missense probably benign 0.18
R1670:Lactb2 UTSW 1 13660417 missense probably damaging 0.99
R2324:Lactb2 UTSW 1 13638296 missense probably damaging 1.00
R2418:Lactb2 UTSW 1 13660339 missense possibly damaging 0.93
R3500:Lactb2 UTSW 1 13660449 start codon destroyed probably null 1.00
R4345:Lactb2 UTSW 1 13660350 missense probably damaging 1.00
R4664:Lactb2 UTSW 1 13647400 missense probably damaging 1.00
R4665:Lactb2 UTSW 1 13647400 missense probably damaging 1.00
R4716:Lactb2 UTSW 1 13638395 missense probably damaging 1.00
R5363:Lactb2 UTSW 1 13630132 missense probably benign 0.22
R5658:Lactb2 UTSW 1 13627418 missense probably benign 0.03
R5734:Lactb2 UTSW 1 13660387 missense probably damaging 1.00
R5918:Lactb2 UTSW 1 13650730 missense probably benign 0.32
R6419:Lactb2 UTSW 1 13638235 nonsense probably null
Posted On2012-04-20