Incidental Mutation 'R5214:Ldhb'
ID 403339
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 042787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5214 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142435975-142453683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142441321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 190 (I190F)
Ref Sequence ENSEMBL: ENSMUSP00000032373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]
AlphaFold P16125
Predicted Effect probably damaging
Transcript: ENSMUST00000032373
AA Change: I190F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: I190F

DomainStartEndE-ValueType
Pfam:Ldh_1_N 22 161 4.2e-51 PFAM
Pfam:Ldh_1_C 164 334 9.6e-25 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130817
AA Change: I18F
Predicted Effect probably damaging
Transcript: ENSMUST00000134191
AA Change: I190F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246
AA Change: I190F

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 unknown
Transcript: ENSMUST00000204433
AA Change: I123F
Meta Mutation Damage Score 0.3974 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (77/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik A G 3: 116,861,424 (GRCm39) noncoding transcript Het
4930449A18Rik A T 3: 59,733,305 (GRCm39) noncoding transcript Het
Acsbg3 T C 17: 57,193,493 (GRCm39) V613A probably benign Het
Adgrl1 G A 8: 84,642,202 (GRCm39) probably null Het
Aldh1l1 A G 6: 90,540,399 (GRCm39) D228G probably damaging Het
Ankrd17 T C 5: 90,431,319 (GRCm39) I822V possibly damaging Het
Atm C A 9: 53,402,327 (GRCm39) A1382S probably benign Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Cacna1e T A 1: 154,577,110 (GRCm39) I96F possibly damaging Het
Calhm5 A G 10: 33,968,487 (GRCm39) S189P probably damaging Het
Ccar1 G A 10: 62,606,740 (GRCm39) R335C probably damaging Het
Ccdc113 T C 8: 96,272,601 (GRCm39) I236T possibly damaging Het
Ccdc14 T A 16: 34,525,225 (GRCm39) S125T probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdon T C 9: 35,394,504 (GRCm39) C917R probably damaging Het
Ckap2l T C 2: 129,127,389 (GRCm39) D263G probably benign Het
Cntnap3 G T 13: 64,909,824 (GRCm39) H760Q probably damaging Het
Dennd2d G A 3: 106,393,637 (GRCm39) probably null Het
Dock4 A G 12: 40,754,465 (GRCm39) I485V probably benign Het
Dspp A G 5: 104,326,364 (GRCm39) D909G unknown Het
Eps8 A T 6: 137,504,490 (GRCm39) M81K probably damaging Het
Fras1 T C 5: 96,917,452 (GRCm39) S3491P probably damaging Het
Gm17669 C T 18: 67,695,479 (GRCm39) T8I possibly damaging Het
Gm5114 G T 7: 39,057,792 (GRCm39) T609K probably benign Het
Gm973 A G 1: 59,565,880 (GRCm39) N32S probably damaging Het
Herpud1 G T 8: 95,117,479 (GRCm39) probably null Het
Jcad T A 18: 4,674,134 (GRCm39) L632Q probably damaging Het
Kcnh8 T C 17: 53,205,486 (GRCm39) L527S probably damaging Het
Klk1b11 C A 7: 43,647,266 (GRCm39) H67N probably benign Het
Lrrc34 A T 3: 30,690,397 (GRCm39) C168* probably null Het
Lrtm1 C T 14: 28,743,651 (GRCm39) H40Y possibly damaging Het
Mageb3 T C 2: 121,785,319 (GRCm39) M128V possibly damaging Het
Miga2 A G 2: 30,261,208 (GRCm39) T90A probably benign Het
Msantd5 C A 11: 51,125,675 (GRCm39) H199Q possibly damaging Het
Ndrg1 G A 15: 66,831,239 (GRCm39) T24I probably damaging Het
Nos2 T C 11: 78,846,267 (GRCm39) L878P probably damaging Het
Or11g27 T G 14: 50,771,804 (GRCm39) *312E probably null Het
Pcdhgb1 T A 18: 37,814,478 (GRCm39) I323N probably damaging Het
Plec A G 15: 76,061,921 (GRCm39) I2537T probably damaging Het
Pnpo C A 11: 96,833,295 (GRCm39) E68D probably benign Het
Ppp6r1 C T 7: 4,646,176 (GRCm39) R175Q probably benign Het
Prnp C T 2: 131,778,924 (GRCm39) T192I probably damaging Het
Ptprb T C 10: 116,205,229 (GRCm39) I2148T possibly damaging Het
Raf1 G T 6: 115,614,583 (GRCm39) F99L possibly damaging Het
Rbks A G 5: 31,807,736 (GRCm39) probably benign Het
Rlf T C 4: 121,007,897 (GRCm39) D361G probably damaging Het
Rnpepl1 G T 1: 92,847,001 (GRCm39) D608Y probably benign Het
Scaf1 G A 7: 44,652,662 (GRCm39) probably benign Het
Sh3rf1 A T 8: 61,825,765 (GRCm39) M587L probably damaging Het
Slc22a21 A T 11: 53,843,869 (GRCm39) S473T probably damaging Het
Syt15 A G 14: 33,943,703 (GRCm39) D84G possibly damaging Het
Tbc1d19 T C 5: 54,007,183 (GRCm39) L236P probably benign Het
Tbx2 G T 11: 85,729,263 (GRCm39) A549S probably benign Het
Tc2n A T 12: 101,659,461 (GRCm39) C157* probably null Het
Tecta C T 9: 42,256,964 (GRCm39) V1571I probably benign Het
Them4 A G 3: 94,224,818 (GRCm39) K65R probably benign Het
Tmc5 C T 7: 118,247,155 (GRCm39) T553M probably damaging Het
Tmem200c C T 17: 69,148,122 (GRCm39) A235V probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tmf1 G C 6: 97,144,253 (GRCm39) A701G possibly damaging Het
Tomm70a G A 16: 56,942,300 (GRCm39) G26S unknown Het
Treh T C 9: 44,594,173 (GRCm39) Y140H probably damaging Het
Ttc28 A G 5: 111,325,489 (GRCm39) probably benign Het
Uba7 T C 9: 107,854,713 (GRCm39) probably benign Het
Ube4a T C 9: 44,860,166 (GRCm39) I299V probably benign Het
Zfhx4 A C 3: 5,468,701 (GRCm39) K2953T probably damaging Het
Zfp280d T A 9: 72,215,395 (GRCm39) probably benign Het
Zscan20 G A 4: 128,482,109 (GRCm39) R518C probably benign Het
Zw10 T C 9: 48,975,463 (GRCm39) I296T possibly 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
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
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'- GCTAAGTGCATCAATGGATAGATG -3'
(R):5'- AATTGGCTGAGCAGTTCCC -3'

Sequencing Primer
(F):5'- TGCATCAATGGATAGATGACAGAAAG -3'
(R):5'- AATTGGCTGAGCAGTTCCCATTTAC -3'
Posted On 2016-07-22