Incidental Mutation 'R1299:Mblac2'
ID 158258
Institutional Source Beutler Lab
Gene Symbol Mblac2
Ensembl Gene ENSMUSG00000051098
Gene Name metallo-beta-lactamase domain containing 2
Synonyms 2900024O10Rik
MMRRC Submission 039365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R1299 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 81859536-81901394 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 81859845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 65 (C65*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048993] [ENSMUST00000057598] [ENSMUST00000161920]
AlphaFold Q8BL86
Predicted Effect probably benign
Transcript: ENSMUST00000048993
SMART Domains Protein: ENSMUSP00000035289
Gene: ENSMUSG00000035834

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 223 7e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000057598
AA Change: C66*
SMART Domains Protein: ENSMUSP00000051644
Gene: ENSMUSG00000051098
AA Change: C66*

DomainStartEndE-ValueType
Lactamase_B 29 231 4.92e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161093
SMART Domains Protein: ENSMUSP00000124885
Gene: ENSMUSG00000035834

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 83 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161920
SMART Domains Protein: ENSMUSP00000125054
Gene: ENSMUSG00000035834

DomainStartEndE-ValueType
Pfam:RNA_pol_3_Rpc31 1 105 1e-13 PFAM
transmembrane domain 136 158 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000224299
AA Change: C65*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,821 (GRCm39) L2228P possibly damaging Het
Acnat1 T A 4: 49,450,925 (GRCm39) E62V possibly damaging Het
Adam7 A G 14: 68,763,748 (GRCm39) probably benign Het
Ate1 A T 7: 130,106,485 (GRCm39) V292D probably damaging Het
Cbx8 T C 11: 118,931,676 (GRCm39) M1V probably null Het
Cdc73 T C 1: 143,575,019 (GRCm39) D58G probably benign Het
Cgnl1 G A 9: 71,628,994 (GRCm39) probably benign Het
Col27a1 G A 4: 63,183,868 (GRCm39) probably benign Het
Fam133b T C 5: 3,604,626 (GRCm39) probably benign Het
Fndc3a A G 14: 72,803,638 (GRCm39) probably benign Het
Golga3 G A 5: 110,352,709 (GRCm39) A867T probably benign Het
Gpr142 A T 11: 114,695,185 (GRCm39) Y50F probably benign Het
Gramd1c A G 16: 43,803,865 (GRCm39) probably benign Het
Gypa G A 8: 81,223,382 (GRCm39) V53I unknown Het
H2-DMb2 T C 17: 34,369,561 (GRCm39) V235A probably benign Het
Igkv10-94 T C 6: 68,681,482 (GRCm39) probably benign Het
Katnip A C 7: 125,451,195 (GRCm39) M1109L probably benign Het
Klhl17 T C 4: 156,315,419 (GRCm39) Y484C probably damaging Het
Ltbp3 T C 19: 5,795,456 (GRCm39) probably benign Het
Mapkbp1 G A 2: 119,845,885 (GRCm39) C412Y probably damaging Het
Or5b104 T A 19: 13,072,494 (GRCm39) N173Y possibly damaging Het
Or6c217 A G 10: 129,737,946 (GRCm39) I211T probably benign Het
Parn G A 16: 13,482,593 (GRCm39) T85M probably benign Het
Pcdhb22 T C 18: 37,653,643 (GRCm39) S704P probably damaging Het
Prex1 A G 2: 166,427,827 (GRCm39) F942L possibly damaging Het
Prox1 G T 1: 189,879,140 (GRCm39) probably benign Het
Prss55 A T 14: 64,319,147 (GRCm39) I70N probably damaging Het
Slc25a13 C T 6: 6,113,937 (GRCm39) probably null Het
Smarca2 T C 19: 26,749,011 (GRCm39) probably null Het
Smarcc2 C A 10: 128,297,247 (GRCm39) N46K probably damaging Het
Tdpoz4 A T 3: 93,703,769 (GRCm39) Y22F probably benign Het
Tgfbr1 T A 4: 47,396,587 (GRCm39) probably null Het
Xpr1 A C 1: 155,292,949 (GRCm39) I11S probably damaging Het
Zfp354b A C 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp882 A G 8: 72,667,317 (GRCm39) E88G probably damaging Het
Other mutations in Mblac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Mblac2 APN 13 81,898,125 (GRCm39) missense probably damaging 1.00
IGL01377:Mblac2 APN 13 81,898,266 (GRCm39) missense probably damaging 1.00
IGL01767:Mblac2 APN 13 81,898,434 (GRCm39) missense probably damaging 1.00
R2006:Mblac2 UTSW 13 81,859,860 (GRCm39) missense probably benign
R2435:Mblac2 UTSW 13 81,898,368 (GRCm39) missense probably damaging 0.99
R4031:Mblac2 UTSW 13 81,898,208 (GRCm39) missense possibly damaging 0.59
R4804:Mblac2 UTSW 13 81,898,428 (GRCm39) nonsense probably null
R4865:Mblac2 UTSW 13 81,860,095 (GRCm39) nonsense probably null
R4906:Mblac2 UTSW 13 81,859,706 (GRCm39) missense probably null
R5480:Mblac2 UTSW 13 81,898,395 (GRCm39) missense possibly damaging 0.77
R7760:Mblac2 UTSW 13 81,859,996 (GRCm39) missense probably benign 0.00
R8138:Mblac2 UTSW 13 81,859,769 (GRCm39) missense probably damaging 1.00
R9002:Mblac2 UTSW 13 81,860,072 (GRCm39) missense possibly damaging 0.89
R9248:Mblac2 UTSW 13 81,859,769 (GRCm39) missense probably damaging 1.00
Z1177:Mblac2 UTSW 13 81,898,286 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGTCTCTGGGCGATGGCATCTTC -3'
(R):5'- TGTAACATGCTGTACACGCTCTCC -3'

Sequencing Primer
(F):5'- AAGAACGGTTCTACGAGTCAGG -3'
(R):5'- ACTGCCTGCACTCGGAAC -3'
Posted On 2014-02-18