Incidental Mutation 'IGL02949:Mblac1'
ID364880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mblac1
Ensembl Gene ENSMUSG00000049285
Gene Namemetallo-beta-lactamase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.452) question?
Stock #IGL02949
Quality Score
Status
Chromosome5
Chromosomal Location138194314-138195621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 138194857 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 154 (C154S)
Ref Sequence ENSEMBL: ENSMUSP00000052869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057773] [ENSMUST00000110932] [ENSMUST00000110934]
Predicted Effect probably benign
Transcript: ENSMUST00000057773
AA Change: C154S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285
AA Change: C154S

DomainStartEndE-ValueType
Lactamase_B 70 235 4.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110932
SMART Domains Protein: ENSMUSP00000106557
Gene: ENSMUSG00000036968

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:DUF3456 32 160 9.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110934
SMART Domains Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:DUF3456 43 202 3.4e-51 PFAM
low complexity region 218 230 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130126
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Mblac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Mblac1 APN 5 138194774 missense possibly damaging 0.93
R0048:Mblac1 UTSW 5 138194465 missense probably damaging 1.00
R0542:Mblac1 UTSW 5 138194536 missense possibly damaging 0.75
R5340:Mblac1 UTSW 5 138194578 missense probably damaging 1.00
R5481:Mblac1 UTSW 5 138194816 missense probably damaging 1.00
R6744:Mblac1 UTSW 5 138194420 missense possibly damaging 0.71
Posted On2015-12-18