Incidental Mutation 'IGL01393:Mblac1'
ID79289
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: 0.325) question?
Stock #IGL01393
Quality Score
Status
Chromosome5
Chromosomal Location138194314-138195621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138194774 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 126 (N126S)
Ref Sequence ENSEMBL: ENSMUSP00000052869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057773] [ENSMUST00000110932] [ENSMUST00000110934]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057773
AA Change: N126S

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052869
Gene: ENSMUSG00000049285
AA Change: N126S

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Mblac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02949:Mblac1 APN 5 138194857 missense probably benign 0.00
R6744_Mblac1_778 UTSW 5 138194420 missense possibly damaging 0.71
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 On2013-11-05