Incidental Mutation 'IGL02133:Ldhb'
ID281077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldhb
Ensembl Gene ENSMUSG00000030246
Gene Namelactate dehydrogenase B
SynonymsLdh-2, lactate dehydrogenase-B, H-Ldh
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02133
Quality Score
Status
Chromosome6
Chromosomal Location142490249-142507957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 142492500 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 277 (M277K)
Ref Sequence ENSEMBL: ENSMUSP00000032373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]
Predicted Effect probably benign
Transcript: ENSMUST00000032373
AA Change: M277K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: M277K

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in Ldhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Ldhb APN 6 142495566 critical splice donor site probably null
IGL03094:Ldhb APN 6 142505527 missense probably benign 0.00
IGL03337:Ldhb APN 6 142494156 missense probably benign
R0347:Ldhb UTSW 6 142494133 missense probably benign 0.00
R0703:Ldhb UTSW 6 142495601 missense probably damaging 1.00
R1531:Ldhb UTSW 6 142501395 missense probably benign 0.09
R1577:Ldhb UTSW 6 142492598 missense possibly damaging 0.87
R1844:Ldhb UTSW 6 142494208 missense probably damaging 1.00
R2151:Ldhb UTSW 6 142498670 missense possibly damaging 0.76
R3500:Ldhb UTSW 6 142501447 missense probably damaging 1.00
R4502:Ldhb UTSW 6 142490457 missense possibly damaging 0.60
R5139:Ldhb UTSW 6 142494195 missense probably damaging 1.00
R5214:Ldhb UTSW 6 142495595 missense probably damaging 1.00
R6499:Ldhb UTSW 6 142494121 missense possibly damaging 0.92
R6525:Ldhb UTSW 6 142490465 missense probably benign
R6598:Ldhb UTSW 6 142490600 missense possibly damaging 0.56
Posted On2015-04-16