Incidental Mutation 'IGL01767:Mblac2'
ID153375
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 #IGL01767
Quality Score
Status
Chromosome13
Chromosomal Location81711341-81753275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81750315 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 270 (L270P)
Ref Sequence ENSEMBL: ENSMUSP00000051644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057598]
Predicted Effect probably damaging
Transcript: ENSMUST00000057598
AA Change: L270P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051644
Gene: ENSMUSG00000051098
AA Change: L270P

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,041,363 V4505A probably benign Het
Aadat A T 8: 60,507,092 D31V probably damaging Het
Acaca A T 11: 84,320,542 Y1560F probably benign Het
Actl7a A G 4: 56,743,980 E169G probably damaging Het
Adgrb3 A G 1: 25,559,814 V270A probably benign Het
Adgre4 G A 17: 55,797,740 V269I probably benign Het
Ankhd1 A G 18: 36,648,374 T2160A probably damaging Het
Bnip2 T A 9: 70,002,116 probably benign Het
Casp16-ps A G 17: 23,552,053 V126A probably damaging Het
Ccser1 C A 6: 61,718,152 T157K probably benign Het
Cdh23 A G 10: 60,315,724 S2459P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chmp6 G A 11: 119,916,986 E72K probably benign Het
Cldn23 T C 8: 35,825,662 Y224C probably damaging Het
Cry1 C T 10: 85,146,474 G336D probably damaging Het
Cyp4f17 T A 17: 32,506,982 F30I probably benign Het
Dgcr8 T A 16: 18,278,336 D496V probably damaging Het
Dhx9 A G 1: 153,468,868 probably benign Het
Dnah10 C T 5: 124,743,737 probably benign Het
Dock9 T C 14: 121,622,870 E880G possibly damaging Het
Dscam A G 16: 96,654,936 V1264A probably damaging Het
Eno1 T C 4: 150,246,710 Y270H probably benign Het
Eprs A G 1: 185,384,915 D385G probably damaging Het
Ercc2 A G 7: 19,390,421 Y215C probably damaging Het
Fam208b G A 13: 3,576,633 P1106S probably benign Het
Fscn2 A G 11: 120,367,750 N400S possibly damaging Het
Fuca1 C T 4: 135,939,201 T449I probably benign Het
Gm43638 T C 5: 87,465,431 K492E probably damaging Het
Gm4778 T A 3: 94,266,484 D262E probably benign Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm8122 T C 14: 43,232,701 T111A unknown Het
Gtf3c2 T A 5: 31,157,635 N923Y probably benign Het
Il17a T A 1: 20,733,640 D86E probably benign Het
Itgb2l G T 16: 96,430,575 N330K probably benign Het
Kcnj11 T C 7: 46,099,065 H278R probably benign Het
Khdrbs2 T A 1: 32,619,176 Y272* probably null Het
Kndc1 A T 7: 139,930,046 Q1267L probably damaging Het
Loxhd1 T A 18: 77,286,424 F64I possibly damaging Het
Lrig2 T A 3: 104,491,545 K222N probably benign Het
Lrrcc1 T A 3: 14,547,272 Y378N probably damaging Het
Med13 A T 11: 86,319,783 I511N probably benign Het
Myo3a A T 2: 22,423,222 E763D probably damaging Het
Olfr1240 C T 2: 89,439,800 V160I probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1447 T A 19: 12,901,748 T11S probably benign Het
Olfr384 T A 11: 73,603,032 F151I probably benign Het
Olfr845 G A 9: 19,339,302 V281I possibly damaging Het
Plxna4 T A 6: 32,237,678 I623F possibly damaging Het
Ppp2ca T A 11: 52,118,055 Y127* probably null Het
Psg18 A G 7: 18,353,397 V112A possibly damaging Het
Ptprj A T 2: 90,469,574 N108K probably benign Het
Rictor A G 15: 6,777,384 Y707C probably damaging Het
Rptn T C 3: 93,395,639 F93S probably benign Het
Rxrg T A 1: 167,627,315 C156S probably damaging Het
Slc24a4 T C 12: 102,223,687 probably benign Het
Slc25a27 C T 17: 43,664,073 probably null Het
Slx4 T C 16: 3,990,248 K481E probably benign Het
Snx19 T C 9: 30,463,264 W940R possibly damaging Het
Tcf20 G A 15: 82,856,008 P414L probably damaging Het
Treml2 T C 17: 48,302,810 V90A probably benign Het
Uckl1 C T 2: 181,569,534 V501M probably damaging Het
Unc79 C T 12: 103,141,997 T1937I probably damaging Het
Vmn2r17 A T 5: 109,420,037 I9F probably benign Het
Vmn2r44 T C 7: 8,380,238 H119R probably benign Het
Vmn2r78 A G 7: 86,954,435 D607G probably benign Het
Vps13a C T 19: 16,663,894 G2288D probably damaging Het
Znfx1 G T 2: 167,055,723 T427N probably damaging Het
Other mutations in Mblac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Mblac2 APN 13 81750006 missense probably damaging 1.00
IGL01377:Mblac2 APN 13 81750147 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 On2014-02-04