Incidental Mutation 'R6513:Lactb'
ID520013
Institutional Source Beutler Lab
Gene Symbol Lactb
Ensembl Gene ENSMUSG00000032370
Gene Namelactamase, beta
SynonymsMrpl56
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6513 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location66955388-66975484 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 66970890 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 219 (R219H)
Ref Sequence ENSEMBL: ENSMUSP00000151155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034929] [ENSMUST00000215172]
Predicted Effect probably damaging
Transcript: ENSMUST00000034929
AA Change: R219H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034929
Gene: ENSMUSG00000032370
AA Change: R219H

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Pfam:Beta-lactamase 110 253 1.4e-33 PFAM
Pfam:Beta-lactamase 285 542 3.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215172
AA Change: R219H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 91,055,766 S161G probably benign Het
Ankfy1 G A 11: 72,730,482 R198Q possibly damaging Het
Ankrd11 A G 8: 122,890,180 V2290A probably benign Het
Aox4 A G 1: 58,213,053 N29S probably benign Het
Arhgap17 T C 7: 123,292,156 R592G possibly damaging Het
BC027072 T A 17: 71,744,706 E1217V probably damaging Het
C87414 C A 5: 93,637,532 probably null Het
Caap1 A T 4: 94,501,403 D231E possibly damaging Het
Cabp1 T A 5: 115,169,134 M165L possibly damaging Het
Cep72 A T 13: 74,058,463 L73H probably damaging Het
Cfap74 A G 4: 155,441,286 S731G probably null Het
Dsc2 T C 18: 20,046,238 I258V probably benign Het
Dsg1c T G 18: 20,274,630 N344K probably benign Het
Enah A G 1: 182,014,355 probably benign Het
Fam26d T A 10: 34,041,634 R274* probably null Het
Fbn1 T A 2: 125,383,671 S554C probably damaging Het
Fkrp C A 7: 16,811,112 R275L possibly damaging Het
Gbp4 C T 5: 105,123,120 G215D possibly damaging Het
Gli2 G A 1: 118,855,554 L239F probably damaging Het
Gpr146 A G 5: 139,392,818 D125G probably damaging Het
Hectd4 C A 5: 121,356,196 probably null Het
Invs G A 4: 48,397,534 V370I possibly damaging Het
Kdm2b A G 5: 122,880,239 V1040A probably damaging Het
Kidins220 T A 12: 25,038,435 V1059D possibly damaging Het
Kif1bp T C 10: 62,575,034 probably null Het
Kif26a T A 12: 112,175,492 S727T probably damaging Het
Klk1b27 A G 7: 44,055,745 H112R probably benign Het
Krt72 T G 15: 101,776,752 probably null Het
Lrig2 A T 3: 104,465,729 I612N probably damaging Het
Meaf6 A C 4: 125,089,904 N51T probably damaging Het
Mtap A G 4: 89,148,261 T36A possibly damaging Het
Myo3a G A 2: 22,407,332 G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 T596I probably damaging Het
Olfr1306 C G 2: 111,912,883 G16R possibly damaging Het
Olfr1338 A T 4: 118,754,027 C172* probably null Het
Pam A G 1: 97,838,027 V759A possibly damaging Het
Pds5a T A 5: 65,615,601 I1220F probably benign Het
Phldb2 T A 16: 45,747,877 M1222L possibly damaging Het
Phospho1 C T 11: 95,830,687 A61V possibly damaging Het
Pnpla7 G A 2: 25,016,538 V638I possibly damaging Het
Ptf1a T A 2: 19,447,037 D282E probably damaging Het
Ptgs2 A T 1: 150,100,128 probably benign Het
Racgap1 T C 15: 99,624,275 R471G probably damaging Het
Rptn T C 3: 93,396,112 S251P possibly damaging Het
Shcbp1 T C 8: 4,744,507 M429V probably benign Het
Shprh T C 10: 11,186,893 L1248P probably damaging Het
Son T C 16: 91,659,947 probably benign Het
Sppl3 T C 5: 115,095,936 L355P probably damaging Het
Tbc1d31 A T 15: 57,955,382 R794W probably damaging Het
Telo2 T C 17: 25,101,412 Y766C probably damaging Het
Tfr2 A G 5: 137,574,531 probably null Het
Tle4 T C 19: 14,451,692 D722G probably damaging Het
Tprgl A G 4: 154,159,405 V98A probably benign Het
Trak1 C T 9: 121,443,756 R237C probably benign Het
Vmn2r113 T C 17: 22,958,741 I833T probably damaging Het
Vmn2r118 T A 17: 55,608,093 S518C probably damaging Het
Vmn2r49 A G 7: 9,976,597 I736T probably damaging Het
Wdr38 T A 2: 38,999,958 probably null Het
Wee2 A G 6: 40,452,619 E180G probably benign Het
Zbtb1 T C 12: 76,385,830 S197P possibly damaging Het
Zc3h7a T C 16: 11,158,765 probably null Het
Zfp516 T A 18: 82,955,710 L11Q probably damaging Het
Zfp623 G A 15: 75,947,468 R91H probably benign Het
Zkscan7 G A 9: 122,896,105 R713Q probably benign Het
Other mutations in Lactb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Lactb APN 9 66967763 missense possibly damaging 0.83
IGL01821:Lactb APN 9 66970898 missense probably damaging 1.00
R0483:Lactb UTSW 9 66970863 missense possibly damaging 0.92
R0523:Lactb UTSW 9 66970692 missense probably benign 0.07
R0644:Lactb UTSW 9 66955890 missense possibly damaging 0.92
R1395:Lactb UTSW 9 66971379 splice site probably benign
R1413:Lactb UTSW 9 66970919 missense probably damaging 1.00
R5059:Lactb UTSW 9 66975144 missense probably benign 0.00
R5381:Lactb UTSW 9 66956015 missense probably damaging 1.00
R5704:Lactb UTSW 9 66955776 nonsense probably null
R6115:Lactb UTSW 9 66967687 missense possibly damaging 0.93
R6415:Lactb UTSW 9 66970645 missense possibly damaging 0.46
X0023:Lactb UTSW 9 66956019 missense probably damaging 1.00
X0067:Lactb UTSW 9 66967725 missense possibly damaging 0.71
Y5406:Lactb UTSW 9 66956155 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGCCTTGTTCGAAGTCATTC -3'
(R):5'- CCCACTCGTATGTTACACTGTG -3'

Sequencing Primer
(F):5'- GGCATCTGGCTTCGCTGTC -3'
(R):5'- TGTTACACTGTGTATACCAGAACCC -3'
Posted On2018-06-06