Incidental Mutation 'IGL01102:Mblac2'
ID52567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mblac2
Ensembl Gene ENSMUSG00000051098
Gene Namemetallo-beta-lactamase domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01102
Quality Score
Status
Chromosome13
Chromosomal Location81711341-81753275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81750006 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 167 (M167T)
Ref Sequence ENSEMBL: ENSMUSP00000051644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057598]
Predicted Effect probably damaging
Transcript: ENSMUST00000057598
AA Change: M167T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051644
Gene: ENSMUSG00000051098
AA Change: M167T

DomainStartEndE-ValueType
Lactamase_B 29 231 4.92e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224299
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,433,956 probably benign Het
Bloc1s2-ps C T 2: 52,619,902 A50V probably benign Het
Col4a3 A G 1: 82,669,720 D455G unknown Het
Col4a3 A G 1: 82,670,255 I496V unknown Het
Coro1c A T 5: 113,849,614 M222K probably benign Het
Dnah5 T A 15: 28,410,003 probably null Het
Emc4 C A 2: 112,367,526 probably benign Het
Fam160a1 A G 3: 85,665,501 probably benign Het
Fcer2a T C 8: 3,688,842 D32G possibly damaging Het
Garnl3 T C 2: 33,006,816 K559E probably damaging Het
Gckr T C 5: 31,309,037 L452P probably damaging Het
Gm13119 A G 4: 144,363,625 I412V probably benign Het
Gm4841 A G 18: 60,270,052 V323A probably damaging Het
Gm6902 T A 7: 23,273,662 I147L probably benign Het
Gpr75 T C 11: 30,891,755 V220A probably benign Het
Hdac6 A G X: 7,946,998 S42P probably benign Het
Hdhd2 A G 18: 76,956,911 N128S probably damaging Het
Hsd3b2 G T 3: 98,711,679 R317S probably damaging Het
Il23r T A 6: 67,423,925 I474F probably damaging Het
Itga5 T C 15: 103,346,675 Y954C probably benign Het
Itgam T C 7: 128,080,273 F196L possibly damaging Het
Mapkbp1 T C 2: 120,021,858 V957A possibly damaging Het
Mterf4 C T 1: 93,305,090 R13H possibly damaging Het
Npffr1 T G 10: 61,614,208 V87G probably damaging Het
Olfr186 G A 16: 59,027,829 P26L probably benign Het
Olfr813 A G 10: 129,856,628 I37V probably benign Het
Phldb2 A G 16: 45,825,060 L386P probably damaging Het
Ppp1r13b A G 12: 111,833,219 I708T probably benign Het
Ramp2 T A 11: 101,247,627 Y85N probably benign Het
Rnf217 A G 10: 31,608,503 Y228H probably damaging Het
Rock1 T G 18: 10,080,502 D1014A probably benign Het
Scyl3 T A 1: 163,934,769 C101* probably null Het
Sema6b G T 17: 56,132,761 L27I possibly damaging Het
Slc10a5 A G 3: 10,335,309 V97A probably benign Het
Strc C A 2: 121,365,060 R1636L probably benign Het
Tm9sf1 T A 14: 55,642,767 T58S probably damaging Het
Tmem106c T C 15: 97,966,944 Y85H probably damaging Het
Uhrf1bp1l T C 10: 89,791,378 L435P probably benign Het
Vmn2r9 A G 5: 108,842,945 probably null Het
Vps13a A G 19: 16,651,417 probably null Het
Zfp976 A T 7: 42,613,909 L168* probably null Het
Other mutations in Mblac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Mblac2 APN 13 81750147 missense probably damaging 1.00
IGL01767:Mblac2 APN 13 81750315 missense probably damaging 1.00
R1299:Mblac2 UTSW 13 81711726 nonsense probably null
R2006:Mblac2 UTSW 13 81711741 missense probably benign
R2435:Mblac2 UTSW 13 81750249 missense probably damaging 0.99
R4031:Mblac2 UTSW 13 81750089 missense possibly damaging 0.59
R4804:Mblac2 UTSW 13 81750309 nonsense probably null
R4865:Mblac2 UTSW 13 81711976 nonsense probably null
R4906:Mblac2 UTSW 13 81711587 missense probably null
R5480:Mblac2 UTSW 13 81750276 missense possibly damaging 0.77
R7760:Mblac2 UTSW 13 81711877 missense probably benign 0.00
R8138:Mblac2 UTSW 13 81711650 missense probably damaging 1.00
Z1177:Mblac2 UTSW 13 81750167 missense probably benign
Posted On2013-06-21