Incidental Mutation 'R9003:Ldhd'
ID 685095
Institutional Source Beutler Lab
Gene Symbol Ldhd
Ensembl Gene ENSMUSG00000031958
Gene Name lactate dehydrogenase D
Synonyms D8Bwg1320e, 4733401P21Rik
MMRRC Submission 068833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R9003 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112352250-112356968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112356894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 17 (S17G)
Ref Sequence ENSEMBL: ENSMUSP00000068086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070004] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856]
AlphaFold Q7TNG8
Predicted Effect probably benign
Transcript: ENSMUST00000070004
AA Change: S17G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: S17G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Atp10a T A 7: 58,457,203 (GRCm39) W901R probably damaging Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or4k42 A G 2: 111,320,411 (GRCm39) F31L probably benign Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Pum1 T G 4: 130,474,393 (GRCm39) S488A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Scarf1 A T 11: 75,406,069 (GRCm39) T118S possibly damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tinf2 T C 14: 55,917,859 (GRCm39) H210R probably benign Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T probably damaging Het
Other mutations in Ldhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ldhd APN 8 112,355,270 (GRCm39) missense possibly damaging 0.61
IGL01372:Ldhd APN 8 112,355,032 (GRCm39) missense probably benign
IGL02273:Ldhd APN 8 112,353,922 (GRCm39) missense probably benign 0.37
IGL03111:Ldhd APN 8 112,353,797 (GRCm39) missense probably damaging 1.00
R0511:Ldhd UTSW 8 112,356,309 (GRCm39) missense probably benign 0.00
R0630:Ldhd UTSW 8 112,353,934 (GRCm39) missense probably benign 0.00
R1468:Ldhd UTSW 8 112,353,925 (GRCm39) missense possibly damaging 0.90
R1468:Ldhd UTSW 8 112,353,925 (GRCm39) missense possibly damaging 0.90
R1682:Ldhd UTSW 8 112,354,745 (GRCm39) missense possibly damaging 0.69
R2023:Ldhd UTSW 8 112,356,578 (GRCm39) missense probably damaging 0.96
R2128:Ldhd UTSW 8 112,353,680 (GRCm39) missense probably benign 0.37
R2131:Ldhd UTSW 8 112,355,169 (GRCm39) splice site probably null
R2180:Ldhd UTSW 8 112,356,018 (GRCm39) missense probably benign 0.05
R4593:Ldhd UTSW 8 112,355,996 (GRCm39) missense probably damaging 1.00
R5153:Ldhd UTSW 8 112,353,724 (GRCm39) missense probably benign 0.06
R5747:Ldhd UTSW 8 112,355,703 (GRCm39) missense probably damaging 1.00
R5796:Ldhd UTSW 8 112,353,722 (GRCm39) missense probably benign 0.03
R6856:Ldhd UTSW 8 112,356,906 (GRCm39) missense probably benign 0.17
R7916:Ldhd UTSW 8 112,356,023 (GRCm39) missense possibly damaging 0.87
R9334:Ldhd UTSW 8 112,353,980 (GRCm39) missense probably benign 0.01
R9430:Ldhd UTSW 8 112,356,680 (GRCm39) missense possibly damaging 0.89
Z1176:Ldhd UTSW 8 112,354,152 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAAGTCCTGGCTGAGTCCAC -3'
(R):5'- ATCTGCAGAGGCCACCTTAAAC -3'

Sequencing Primer
(F):5'- AGTGCGAGGGGGTCATC -3'
(R):5'- TTAAACCGGCTCCACCTTAAG -3'
Posted On 2021-10-11