Incidental Mutation 'R9266:Lactb'
ID 702549
Institutional Source Beutler Lab
Gene Symbol Lactb
Ensembl Gene ENSMUSG00000032370
Gene Name lactamase, beta
Synonyms Mrpl56
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 66862668-66882706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66878499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 190 (Y190H)
Ref Sequence ENSEMBL: ENSMUSP00000034929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034929] [ENSMUST00000215172]
AlphaFold Q9EP89
Predicted Effect possibly damaging
Transcript: ENSMUST00000034929
AA Change: Y190H

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034929
Gene: ENSMUSG00000032370
AA Change: Y190H

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: Y190H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C A 17: 36,270,178 (GRCm39) E627* probably null Het
Aoc1l2 A G 6: 48,907,171 (GRCm39) N57S probably benign Het
Arhgap42 A G 9: 9,006,386 (GRCm39) V670A probably benign Het
Arhgef16 C A 4: 154,375,922 (GRCm39) R24L probably benign Het
Atad2 A T 15: 57,985,967 (GRCm39) D251E probably benign Het
Atf2 T C 2: 73,649,271 (GRCm39) S447G probably benign Het
Atp8b1 T C 18: 64,704,108 (GRCm39) M337V probably benign Het
Atp8b1 C T 18: 64,710,528 (GRCm39) D170N possibly damaging Het
Azin2 C A 4: 128,856,230 (GRCm39) probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh19 A G 1: 110,817,771 (GRCm39) L657P probably damaging Het
Crybg3 A T 16: 59,372,544 (GRCm39) V598E probably damaging Het
Cwc22 A G 2: 77,754,952 (GRCm39) I208T probably benign Het
Cyp4a32 T A 4: 115,468,307 (GRCm39) D292E probably damaging Het
Dnah10 G A 5: 124,845,990 (GRCm39) V1510I probably benign Het
Dpp3 G T 19: 4,964,686 (GRCm39) Y540* probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Elf1 A G 14: 79,798,290 (GRCm39) D59G probably benign Het
Epc1 A T 18: 6,449,219 (GRCm39) M476K probably benign Het
Espnl C A 1: 91,272,771 (GRCm39) S710R probably benign Het
Fam171b T C 2: 83,683,926 (GRCm39) W148R probably damaging Het
Fhod1 A G 8: 106,065,531 (GRCm39) L88P unknown Het
Frmd4a A G 2: 4,610,846 (GRCm39) S999G probably damaging Het
Glmp T C 3: 88,233,036 (GRCm39) I58T probably damaging Het
Gm45861 T A 8: 28,074,674 (GRCm39) D1341E unknown Het
Gpr179 A G 11: 97,227,766 (GRCm39) I1463T probably benign Het
Gsdmc2 T C 15: 63,698,088 (GRCm39) E339G probably damaging Het
Insm1 A T 2: 146,064,933 (GRCm39) I250F probably damaging Het
Insm1 G A 2: 146,064,943 (GRCm39) G253D possibly damaging Het
Itih1 A T 14: 30,652,222 (GRCm39) S824T probably damaging Het
Lrba T C 3: 86,198,774 (GRCm39) M197T probably benign Het
Lrrc4c A G 2: 97,459,853 (GRCm39) I160V probably benign Het
Lrrc59 A T 11: 94,532,044 (GRCm39) probably null Het
Ltk A T 2: 119,585,121 (GRCm39) M425K possibly damaging Het
Map9 T C 3: 82,278,594 (GRCm39) V198A possibly damaging Het
Mms22l T C 4: 24,578,878 (GRCm39) Y746H probably damaging Het
Ms4a4b A G 19: 11,432,060 (GRCm39) I60M probably benign Het
Mtif2 T C 11: 29,480,065 (GRCm39) W44R probably benign Het
Nadsyn1 A T 7: 143,369,348 (GRCm39) W128R probably damaging Het
Nrcam G A 12: 44,636,917 (GRCm39) A1117T probably damaging Het
Ntng1 G A 3: 110,050,923 (GRCm39) probably benign Het
Ntng1 A G 3: 110,051,162 (GRCm39) F56L unknown Het
Oas2 A T 5: 120,887,637 (GRCm39) Y68N probably damaging Het
Or4c119 A T 2: 88,986,854 (GRCm39) F222I possibly damaging Het
Or5b101 A C 19: 13,005,648 (GRCm39) L15R probably damaging Het
Or6c6c T C 10: 129,541,547 (GRCm39) S267P probably benign Het
Pals2 T C 6: 50,140,463 (GRCm39) M161T probably benign Het
Paqr8 C T 1: 21,005,863 (GRCm39) T339I probably benign Het
Pcdhga10 A G 18: 37,881,814 (GRCm39) E525G probably benign Het
Psg28 T G 7: 18,161,752 (GRCm39) L250F probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc16a4 A T 3: 107,199,788 (GRCm39) T12S probably benign Het
Slc9b1 A G 3: 135,054,468 (GRCm39) probably benign Het
Slit3 T C 11: 35,598,808 (GRCm39) S1471P probably damaging Het
Smpdl3a T C 10: 57,678,596 (GRCm39) V133A possibly damaging Het
Snap23 C T 2: 120,414,781 (GRCm39) probably benign Het
Spp2 A G 1: 88,344,975 (GRCm39) M146V probably benign Het
Syf2 C A 4: 134,663,321 (GRCm39) N164K possibly damaging Het
Sync T G 4: 129,187,179 (GRCm39) Y70* probably null Het
Tex56 A G 13: 35,116,569 (GRCm39) K106R possibly damaging Het
Tmigd3 T C 3: 105,824,216 (GRCm39) F62L probably benign Het
Trpa1 C T 1: 14,980,953 (GRCm39) probably null Het
U2surp A T 9: 95,366,468 (GRCm39) I480N probably damaging Het
Usf3 C T 16: 44,040,095 (GRCm39) T1525I probably damaging Het
Vmn2r2 T C 3: 64,024,057 (GRCm39) I841M probably damaging Het
Zfp335 T A 2: 164,738,007 (GRCm39) Q868L probably benign Het
Zscan10 A G 17: 23,828,385 (GRCm39) E309G possibly damaging Het
Other mutations in Lactb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01418:Lactb APN 9 66,875,045 (GRCm39) missense possibly damaging 0.83
IGL01821:Lactb APN 9 66,878,180 (GRCm39) missense probably damaging 1.00
R0483:Lactb UTSW 9 66,878,145 (GRCm39) missense possibly damaging 0.92
R0523:Lactb UTSW 9 66,877,974 (GRCm39) missense probably benign 0.07
R0644:Lactb UTSW 9 66,863,172 (GRCm39) missense possibly damaging 0.92
R1395:Lactb UTSW 9 66,878,661 (GRCm39) splice site probably benign
R1413:Lactb UTSW 9 66,878,201 (GRCm39) missense probably damaging 1.00
R5059:Lactb UTSW 9 66,882,426 (GRCm39) missense probably benign 0.00
R5381:Lactb UTSW 9 66,863,297 (GRCm39) missense probably damaging 1.00
R5704:Lactb UTSW 9 66,863,058 (GRCm39) nonsense probably null
R6115:Lactb UTSW 9 66,874,969 (GRCm39) missense possibly damaging 0.93
R6415:Lactb UTSW 9 66,877,927 (GRCm39) missense possibly damaging 0.46
R6513:Lactb UTSW 9 66,878,172 (GRCm39) missense probably damaging 1.00
R8858:Lactb UTSW 9 66,863,182 (GRCm39) nonsense probably null
R9057:Lactb UTSW 9 66,874,977 (GRCm39) missense possibly damaging 0.80
X0023:Lactb UTSW 9 66,863,301 (GRCm39) missense probably damaging 1.00
X0067:Lactb UTSW 9 66,875,007 (GRCm39) missense possibly damaging 0.71
Y5406:Lactb UTSW 9 66,863,437 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGCTCACAGAAAAGTAGCC -3'
(R):5'- ATCCCAGCTAGTCCAGTGTC -3'

Sequencing Primer
(F):5'- CACAGAAAAGTAGCCAAAAGATTATC -3'
(R):5'- CCAGCTAGTCCAGTGTCTTAAAAAG -3'
Posted On 2022-03-25