Incidental Mutation 'R1577:Ldhb'
ID 171219
Institutional Source Beutler Lab
Gene Symbol Ldhb
Ensembl Gene ENSMUSG00000030246
Gene Name lactate dehydrogenase B
Synonyms lactate dehydrogenase-B, Ldh-2, H-Ldh
MMRRC Submission 039615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1577 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142435975-142453683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 142438324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 244 (K244N)
Ref Sequence ENSEMBL: ENSMUSP00000032373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]
AlphaFold P16125
Predicted Effect possibly damaging
Transcript: ENSMUST00000032373
AA Change: K244N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: K244N

DomainStartEndE-ValueType
Pfam:Ldh_1_N 22 161 4.2e-51 PFAM
Pfam:Ldh_1_C 164 334 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130817
Predicted Effect probably benign
Transcript: ENSMUST00000134191
SMART Domains Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246

DomainStartEndE-ValueType
Pfam:Ldh_1_N 22 161 6.3e-54 PFAM
Pfam:Glyco_hydro_4 79 178 2.1e-8 PFAM
Pfam:Ldh_1_C 164 198 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204433
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have also been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes 1 and 19. [provided by RefSeq, Feb 2016]
PHENOTYPE: Electrophoretic variants of LDHB are determined by: the a allele with fast anodal mobility in all inbred strains tested; and the b allele with slower mobility in Peru-Coppock stock. Three additional variants are known in wild M. spretus from southern France and Spain. Alleles are codominant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,264 (GRCm39) N404S possibly damaging Het
Cep85 T C 4: 133,879,599 (GRCm39) E383G probably damaging Het
Chst4 A T 8: 110,756,476 (GRCm39) H379Q probably benign Het
Clca3b A T 3: 144,529,280 (GRCm39) I798N probably damaging Het
Cldnd1 T G 16: 58,553,016 (GRCm39) L159R possibly damaging Het
Cntnap3 T C 13: 64,906,104 (GRCm39) E834G probably damaging Het
Col2a1 C T 15: 97,877,083 (GRCm39) R1065Q probably damaging Het
Dchs1 T C 7: 105,415,162 (GRCm39) D674G probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Egfr A G 11: 16,819,241 (GRCm39) E257G probably benign Het
Eif4b C T 15: 101,998,336 (GRCm39) R339* probably null Het
Fat1 C T 8: 45,476,420 (GRCm39) T1822M probably benign Het
Fgd3 T C 13: 49,435,413 (GRCm39) N282D probably damaging Het
Fmo4 T C 1: 162,631,269 (GRCm39) M233V possibly damaging Het
Gabbr2 T A 4: 46,684,319 (GRCm39) M652L probably benign Het
Gal3st2c G A 1: 93,934,650 (GRCm39) V13M probably damaging Het
Gapvd1 C T 2: 34,599,240 (GRCm39) G686D probably damaging Het
Gdap1l1 T G 2: 163,280,524 (GRCm39) L20R probably damaging Het
Gm5800 A T 14: 51,952,016 (GRCm39) M82K probably benign Het
Grm6 T A 11: 50,753,972 (GRCm39) C759S probably damaging Het
Hs3st1 A T 5: 39,772,393 (GRCm39) D83E probably benign Het
Il12rb1 A G 8: 71,263,250 (GRCm39) D39G probably damaging Het
Lypd6 C T 2: 50,080,710 (GRCm39) R133* probably null Het
Med13l G A 5: 118,859,457 (GRCm39) G215S probably damaging Het
Ncoa1 T C 12: 4,345,196 (GRCm39) D606G probably damaging Het
Noc2l C T 4: 156,325,079 (GRCm39) T151M probably damaging Het
Or10q3 T C 19: 11,847,741 (GRCm39) T280A probably damaging Het
Or2ag2 T C 7: 106,485,217 (GRCm39) K269R probably benign Het
Or2at4 T C 7: 99,384,563 (GRCm39) L71P probably damaging Het
Or2t26 T A 11: 49,040,016 (GRCm39) C311S probably benign Het
Or5aq1b T C 2: 86,901,741 (GRCm39) T246A probably benign Het
Ppm1l G A 3: 69,460,403 (GRCm39) G327R probably damaging Het
Rapgef5 C T 12: 117,558,911 (GRCm39) A282V probably benign Het
Rnf139 T C 15: 58,771,367 (GRCm39) V464A probably damaging Het
Rprd2 C T 3: 95,672,047 (GRCm39) E1119K probably damaging Het
Sipa1l2 G A 8: 126,219,001 (GRCm39) T112I probably benign Het
Skint6 T C 4: 113,005,720 (GRCm39) T363A possibly damaging Het
Slc22a16 G T 10: 40,479,811 (GRCm39) E607* probably null Het
Slc24a2 T C 4: 86,909,648 (GRCm39) Y690C probably damaging Het
Slc25a23 T C 17: 57,354,306 (GRCm39) S115G probably benign Het
Slc4a3 T C 1: 75,527,535 (GRCm39) L168P probably damaging Het
Spats2 T A 15: 99,076,333 (GRCm39) I137N possibly damaging Het
Stard4 A T 18: 33,338,151 (GRCm39) V133D probably damaging Het
Syn3 A G 10: 86,284,728 (GRCm39) probably null Het
Tfpi A G 2: 84,263,447 (GRCm39) I305T probably damaging Het
Tmtc1 T A 6: 148,314,318 (GRCm39) probably null Het
Tpcn1 A C 5: 120,682,485 (GRCm39) W508G probably damaging Het
Ubr5 A T 15: 38,030,974 (GRCm39) N406K possibly damaging Het
Xrcc1 T A 7: 24,265,052 (GRCm39) L118* probably null Het
Zbtb5 T C 4: 44,995,129 (GRCm39) Y85C probably damaging Het
Zfand4 C A 6: 116,306,373 (GRCm39) Y735* probably null Het
Zfp180 G T 7: 23,805,333 (GRCm39) C584F probably damaging Het
Other mutations in Ldhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Ldhb APN 6 142,438,226 (GRCm39) missense probably benign 0.16
IGL02215:Ldhb APN 6 142,441,292 (GRCm39) critical splice donor site probably null
IGL03094:Ldhb APN 6 142,451,253 (GRCm39) missense probably benign 0.00
IGL03337:Ldhb APN 6 142,439,882 (GRCm39) missense probably benign
R0347:Ldhb UTSW 6 142,439,859 (GRCm39) missense probably benign 0.00
R0703:Ldhb UTSW 6 142,441,327 (GRCm39) missense probably damaging 1.00
R1531:Ldhb UTSW 6 142,447,121 (GRCm39) missense probably benign 0.09
R1844:Ldhb UTSW 6 142,439,934 (GRCm39) missense probably damaging 1.00
R2151:Ldhb UTSW 6 142,444,396 (GRCm39) missense possibly damaging 0.76
R3500:Ldhb UTSW 6 142,447,173 (GRCm39) missense probably damaging 1.00
R4502:Ldhb UTSW 6 142,436,183 (GRCm39) missense possibly damaging 0.60
R5139:Ldhb UTSW 6 142,439,921 (GRCm39) missense probably damaging 1.00
R5214:Ldhb UTSW 6 142,441,321 (GRCm39) missense probably damaging 1.00
R6499:Ldhb UTSW 6 142,439,847 (GRCm39) missense possibly damaging 0.92
R6525:Ldhb UTSW 6 142,436,191 (GRCm39) missense probably benign
R6598:Ldhb UTSW 6 142,436,326 (GRCm39) missense possibly damaging 0.56
R7096:Ldhb UTSW 6 142,447,099 (GRCm39) missense probably benign 0.09
R7399:Ldhb UTSW 6 142,441,399 (GRCm39) missense probably damaging 0.99
R7565:Ldhb UTSW 6 142,438,245 (GRCm39) missense possibly damaging 0.67
R8447:Ldhb UTSW 6 142,444,356 (GRCm39) missense probably damaging 0.99
R9120:Ldhb UTSW 6 142,439,935 (GRCm39) missense probably damaging 1.00
R9628:Ldhb UTSW 6 142,439,862 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACCCTGGGTGCAAAAGTTAGTCTG -3'
(R):5'- ACACATCACTAGGTGTCTCCCGTC -3'

Sequencing Primer
(F):5'- TGCAAAAGTTAGTCTGTGCTGAAG -3'
(R):5'- AGGTGTCTCCCGTCCTTAG -3'
Posted On 2014-04-13