Incidental Mutation 'IGL02215:Ldhb'
ID 284865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldhb
Ensembl Gene ENSMUSG00000030246
Gene Name lactate dehydrogenase B
Synonyms lactate dehydrogenase-B, Ldh-2, H-Ldh
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02215
Quality Score
Status
Chromosome 6
Chromosomal Location 142435975-142453683 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 142441292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]
AlphaFold P16125
Predicted Effect probably null
Transcript: ENSMUST00000032373
SMART Domains Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246

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 null
Transcript: ENSMUST00000130817
Predicted Effect probably null
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 null
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,196 (GRCm39) S378R probably benign Het
Abca14 T A 7: 119,852,612 (GRCm39) M859K probably benign Het
Adamts13 C T 2: 26,875,495 (GRCm39) P462S probably damaging Het
Apol7a G T 15: 77,277,690 (GRCm39) D19E possibly damaging Het
Armc8 T C 9: 99,366,031 (GRCm39) N628D possibly damaging Het
Astn2 T A 4: 66,184,471 (GRCm39) I209F unknown Het
Atp10b T C 11: 43,085,492 (GRCm39) probably null Het
C4b C T 17: 34,953,465 (GRCm39) C1006Y probably damaging Het
Capn13 A G 17: 73,637,993 (GRCm39) L470P probably damaging Het
Col4a4 T C 1: 82,431,530 (GRCm39) R1585G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd3 C T 15: 47,449,084 (GRCm39) V3637M probably damaging Het
Dgki C T 6: 36,993,610 (GRCm39) D584N probably damaging Het
Dmrt2 T C 19: 25,655,498 (GRCm39) S366P probably damaging Het
Dmtf1 A C 5: 9,186,070 (GRCm39) L172R probably damaging Het
Efhc2 A G X: 17,096,817 (GRCm39) F177L probably damaging Het
Enpep T A 3: 129,063,926 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,967 (GRCm39) D245V probably damaging Het
Fam199x T A X: 135,963,399 (GRCm39) probably benign Het
Fkbp4 A T 6: 128,411,433 (GRCm39) probably benign Het
Gas7 A G 11: 67,534,158 (GRCm39) H86R probably benign Het
Gcc2 A G 10: 58,107,458 (GRCm39) N862S probably benign Het
Gstm7 T C 3: 107,837,594 (GRCm39) D115G possibly damaging Het
Gtse1 C A 15: 85,746,799 (GRCm39) P205Q possibly damaging Het
H2bc1 A T 13: 24,118,093 (GRCm39) F16Y probably benign Het
Herc4 G A 10: 63,109,345 (GRCm39) M193I probably benign Het
Igfl3 T A 7: 17,913,763 (GRCm39) C38S possibly damaging Het
Il18rap G A 1: 40,587,082 (GRCm39) D455N probably damaging Het
Ints8 A G 4: 11,209,244 (GRCm39) I932T probably damaging Het
Itgbl1 A C 14: 124,209,553 (GRCm39) I311L probably benign Het
Jmjd1c A T 10: 67,056,101 (GRCm39) H794L probably damaging Het
Kif1a A G 1: 92,948,271 (GRCm39) S1542P probably benign Het
Klc3 T A 7: 19,129,750 (GRCm39) N373I probably damaging Het
Lcn2 T C 2: 32,274,877 (GRCm39) *201W probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Npat T A 9: 53,470,417 (GRCm39) S348T probably benign Het
Pclo A T 5: 14,906,999 (GRCm39) D5001V unknown Het
Peg3 C A 7: 6,712,010 (GRCm39) A1071S probably benign Het
Piwil2 A T 14: 70,628,822 (GRCm39) D731E possibly damaging Het
Prss41 T A 17: 24,062,830 (GRCm39) D35V probably benign Het
Ptprz1 T A 6: 22,965,181 (GRCm39) D159E possibly damaging Het
Rabep1 C T 11: 70,814,023 (GRCm39) Q571* probably null Het
Scn8a A G 15: 100,927,453 (GRCm39) probably null Het
Sipa1l2 G A 8: 126,174,576 (GRCm39) T1234I possibly damaging Het
Slc5a10 T A 11: 61,564,738 (GRCm39) M414L probably benign Het
Smg5 T C 3: 88,260,305 (GRCm39) S632P possibly damaging Het
Smim15 A G 13: 108,184,048 (GRCm39) D18G probably benign Het
Sorl1 T A 9: 41,929,478 (GRCm39) I1132F probably damaging Het
Spatc1 T C 15: 76,167,739 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,422 (GRCm39) probably benign Het
Tesc A G 5: 118,199,683 (GRCm39) D195G probably damaging Het
Tmem39b T A 4: 129,586,311 (GRCm39) probably null Het
Vmn2r52 A G 7: 9,905,029 (GRCm39) V270A probably damaging Het
Wdr3 C A 3: 100,054,016 (GRCm39) probably null Het
Other mutations in Ldhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Ldhb APN 6 142,438,226 (GRCm39) missense probably benign 0.16
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
R1577:Ldhb UTSW 6 142,438,324 (GRCm39) missense possibly damaging 0.87
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
Posted On 2015-04-16