Incidental Mutation 'R5747:Ldhd'
ID445821
Institutional Source Beutler Lab
Gene Symbol Ldhd
Ensembl Gene ENSMUSG00000031958
Gene Namelactate dehydrogenase D
SynonymsD8Bwg1320e, 4733401P21Rik
MMRRC Submission 043354-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #R5747 (G1)
Quality Score215
Status Validated
Chromosome8
Chromosomal Location111623785-111630374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111629071 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 182 (T182A)
Ref Sequence ENSEMBL: ENSMUSP00000068086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070004] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856]
Predicted Effect probably damaging
Transcript: ENSMUST00000070004
AA Change: T182A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: T182A

DomainStartEndE-ValueType
Pfam:FAD_binding_4 66 203 5.2e-38 PFAM
Pfam:FAD-oxidase_C 242 483 3.5e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166859
SMART Domains Protein: ENSMUSP00000132939
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 84 124 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168428
SMART Domains Protein: ENSMUSP00000126684
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171182
SMART Domains Protein: ENSMUSP00000127956
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 152 192 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172856
SMART Domains Protein: ENSMUSP00000133309
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173909
Meta Mutation Damage Score 0.5685 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A T 1: 25,826,562 Y67N probably damaging Het
Akap8l T C 17: 32,345,378 T12A probably damaging Het
Anapc1 A G 2: 128,624,916 V1620A probably benign Het
Ank2 A G 3: 126,941,751 probably benign Het
Ankrd34c C T 9: 89,729,761 V176M possibly damaging Het
Arhgap39 C T 15: 76,741,535 D190N possibly damaging Het
Cbl A G 9: 44,201,119 L93P probably damaging Het
Crebl2 C T 6: 134,851,140 L92F probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dzip1l T A 9: 99,639,809 probably null Het
Echs1 T C 7: 140,111,812 probably benign Het
Epha4 A G 1: 77,506,883 I163T probably damaging Het
Fdft1 A G 14: 63,146,839 S388P probably damaging Het
Gbx2 A G 1: 89,928,715 S318P probably damaging Het
Gkn1 T A 6: 87,346,337 T165S probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm10801 G C 2: 98,664,007 R143T possibly damaging Het
Gm5093 T G 17: 46,439,990 E37A possibly damaging Het
Gm527 A T 12: 64,920,846 N14I probably damaging Het
Gm6803 C T 12: 88,018,596 C59Y possibly damaging Het
Gnaz C T 10: 74,991,403 probably benign Het
Grik2 T C 10: 49,523,774 T287A probably benign Het
Gtf2h4 T C 17: 35,670,381 Y220C possibly damaging Het
Igkv8-28 T C 6: 70,144,157 E2G probably benign Het
Itgbl1 T A 14: 123,972,164 Y318* probably null Het
Kcnh5 T C 12: 74,898,420 E685G probably benign Het
Kctd18 A T 1: 57,962,024 probably benign Het
Ldhal6b A C 17: 5,417,819 V280G probably damaging Het
Lman2l T C 1: 36,424,957 D272G possibly damaging Het
Lrrc63 T C 14: 75,126,464 T76A probably benign Het
Map3k3 A G 11: 106,150,410 T402A probably benign Het
Mdga1 C T 17: 29,850,551 D174N probably benign Het
Mob4 A G 1: 55,148,578 M68V probably damaging Het
Olfr344 A T 2: 36,568,967 Y123F probably damaging Het
Rassf8 A G 6: 145,815,815 E289G probably benign Het
Rnf17 T C 14: 56,465,819 probably null Het
Rp9 A G 9: 22,448,664 probably benign Het
Rrm2b T C 15: 37,927,390 Q92R probably benign Het
Sema6d C T 2: 124,664,947 P879S probably damaging Het
Slc27a2 T A 2: 126,564,738 M114K probably benign Het
Slc4a5 T A 6: 83,271,029 Y521N probably damaging Het
Slc6a4 A T 11: 77,010,511 N24I probably damaging Het
Spata13 T A 14: 60,747,503 D815E probably benign Het
Spocd1 A G 4: 129,954,945 D656G probably damaging Het
Susd1 T A 4: 59,424,108 N39I probably damaging Het
Vps13d G A 4: 145,168,283 T417I probably benign Het
Wdr31 C T 4: 62,463,400 V65I probably damaging Het
Zfp783 T C 6: 47,948,895 probably benign Het
Other mutations in Ldhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ldhd APN 8 111628638 missense possibly damaging 0.61
IGL01372:Ldhd APN 8 111628400 missense probably benign
IGL02273:Ldhd APN 8 111627290 missense probably benign 0.37
IGL03111:Ldhd APN 8 111627165 missense probably damaging 1.00
R0511:Ldhd UTSW 8 111629677 missense probably benign 0.00
R0630:Ldhd UTSW 8 111627302 missense probably benign 0.00
R1468:Ldhd UTSW 8 111627293 missense possibly damaging 0.90
R1468:Ldhd UTSW 8 111627293 missense possibly damaging 0.90
R1682:Ldhd UTSW 8 111628113 missense possibly damaging 0.69
R2023:Ldhd UTSW 8 111629946 missense probably damaging 0.96
R2128:Ldhd UTSW 8 111627048 missense probably benign 0.37
R2131:Ldhd UTSW 8 111628537 unclassified probably null
R2180:Ldhd UTSW 8 111629386 missense probably benign 0.05
R4593:Ldhd UTSW 8 111629364 missense probably damaging 1.00
R5153:Ldhd UTSW 8 111627092 missense probably benign 0.06
R5796:Ldhd UTSW 8 111627090 missense probably benign 0.03
R6856:Ldhd UTSW 8 111630274 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TGGTTTAATGACCCAGAGAGGC -3'
(R):5'- TGGACTAACCACAGAGTACCTG -3'

Sequencing Primer
(F):5'- TTTAATGACCCAGAGAGGCCTTGC -3'
(R):5'- CCACAGAGTACCTGACCGAG -3'
Posted On2016-11-21