Incidental Mutation 'R9334:Ldhd'
ID 707000
Institutional Source Beutler Lab
Gene Symbol Ldhd
Ensembl Gene ENSMUSG00000031958
Gene Name lactate dehydrogenase D
Synonyms D8Bwg1320e, 4733401P21Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R9334 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112352250-112356968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112353980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 407 (I407F)
Ref Sequence ENSEMBL: ENSMUSP00000068086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070004] [ENSMUST00000095176] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856] [ENSMUST00000173506] [ENSMUST00000174333] [ENSMUST00000174454]
AlphaFold Q7TNG8
Predicted Effect probably benign
Transcript: ENSMUST00000070004
AA Change: I407F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: I407F

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: ENSMUST00000095176
SMART Domains Protein: ENSMUSP00000092799
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
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 probably benign
Transcript: ENSMUST00000173506
SMART Domains Protein: ENSMUSP00000133993
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173922
Predicted Effect probably benign
Transcript: ENSMUST00000174333
SMART Domains Protein: ENSMUSP00000134634
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 84 124 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174376
Predicted Effect probably benign
Transcript: ENSMUST00000174454
SMART Domains Protein: ENSMUSP00000133519
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 22 62 2.98e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,739,251 (GRCm39) I346N probably damaging Het
Adam6b A C 12: 113,454,768 (GRCm39) E528D probably damaging Het
Ang A G 14: 51,339,017 (GRCm39) M53V possibly damaging Het
Ankrd26 G A 6: 118,509,262 (GRCm39) A601V probably benign Het
Atp6v0d2 A G 4: 19,890,695 (GRCm39) L155P probably damaging Het
Cacna1a T C 8: 85,296,594 (GRCm39) V1204A probably damaging Het
Car4 A G 11: 84,855,415 (GRCm39) I183V probably benign Het
Ccdc149 G T 5: 52,578,171 (GRCm39) A87E possibly damaging Het
Ccdc88b A G 19: 6,833,541 (GRCm39) M208T possibly damaging Het
Ccnt2 T C 1: 127,723,046 (GRCm39) L162S probably damaging Het
Cd27 A G 6: 125,213,718 (GRCm39) probably null Het
Cfap44 C A 16: 44,239,654 (GRCm39) T567K probably damaging Het
Cpne5 C T 17: 29,423,673 (GRCm39) V152M probably benign Het
Cyp2u1 C T 3: 131,092,065 (GRCm39) V152M probably damaging Het
Dnajc13 A T 9: 104,051,659 (GRCm39) F1733I probably benign Het
Dop1a A G 9: 86,403,027 (GRCm39) Y1409C probably damaging Het
Ecm2 T C 13: 49,677,815 (GRCm39) M367T probably benign Het
Eif4g2 A G 7: 110,674,031 (GRCm39) S658P possibly damaging Het
Exoc3l4 T C 12: 111,397,117 (GRCm39) L666P probably damaging Het
Fbxl4 G A 4: 22,376,778 (GRCm39) M71I probably damaging Het
Fbxw10 T C 11: 62,765,910 (GRCm39) S727P possibly damaging Het
Fem1b A T 9: 62,703,604 (GRCm39) L552* probably null Het
Filip1 A T 9: 79,725,739 (GRCm39) V960D probably benign Het
Glipr1l3 A T 10: 111,979,948 (GRCm39) M198K probably benign Het
Gm19410 T A 8: 36,270,722 (GRCm39) C1216* probably null Het
Gmps T A 3: 63,889,864 (GRCm39) V81E probably damaging Het
Gpr150 G T 13: 76,204,103 (GRCm39) Q281K probably benign Het
Grsf1 A G 5: 88,820,469 (GRCm39) V221A probably damaging Het
Gsc T A 12: 104,439,353 (GRCm39) I8F probably damaging Het
Homer2 A T 7: 81,261,078 (GRCm39) C284* probably null Het
Hrg T A 16: 22,780,061 (GRCm39) H446Q unknown Het
Jag1 C T 2: 136,943,593 (GRCm39) R201H probably damaging Het
Kctd15 C T 7: 34,341,483 (GRCm39) R148H possibly damaging Het
Klhdc7a G A 4: 139,693,493 (GRCm39) R485C probably benign Het
Lgals12 G A 19: 7,578,086 (GRCm39) R192C probably benign Het
Lmf2 G A 15: 89,239,577 (GRCm39) L26F probably damaging Het
Lum A T 10: 97,404,347 (GRCm39) I81F probably damaging Het
Map1b G T 13: 99,568,148 (GRCm39) D1524E unknown Het
Marveld3 A G 8: 110,675,036 (GRCm39) L260S probably damaging Het
Mms19 C T 19: 41,942,203 (GRCm39) R555H probably benign Het
Mrpl37 G A 4: 106,921,605 (GRCm39) T208I probably benign Het
Mug1 A T 6: 121,838,490 (GRCm39) T498S probably benign Het
Myo3b T C 2: 70,047,360 (GRCm39) C289R probably damaging Het
Myo7a A T 7: 97,716,369 (GRCm39) F1459Y probably damaging Het
Neurl4 C A 11: 69,796,792 (GRCm39) R518S probably damaging Het
Nmnat2 T G 1: 152,949,585 (GRCm39) V43G probably damaging Het
Or2b11 T C 11: 59,462,272 (GRCm39) Y98C probably damaging Het
Or2n1b T A 17: 38,459,840 (GRCm39) F120L probably benign Het
Or6c6c A G 10: 129,541,683 (GRCm39) N312S probably benign Het
Otog A G 7: 45,909,353 (GRCm39) T608A possibly damaging Het
Pck2 G A 14: 55,785,283 (GRCm39) R482Q probably damaging Het
Pcx G A 19: 4,670,532 (GRCm39) M1013I probably benign Het
Pex13 A G 11: 23,605,630 (GRCm39) M200T probably benign Het
Pigt CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC 2: 164,349,420 (GRCm39) probably null Het
Pramel32 A T 4: 88,548,186 (GRCm39) I73K probably damaging Het
Ptpn4 T C 1: 119,730,114 (GRCm39) H26R probably benign Het
Ralgps2 T A 1: 156,715,599 (GRCm39) E72V probably damaging Het
Relch T A 1: 105,654,179 (GRCm39) F873L possibly damaging Het
Scube1 A T 15: 83,512,264 (GRCm39) C396S possibly damaging Het
Sec23b T A 2: 144,410,550 (GRCm39) N283K possibly damaging Het
Setx T A 2: 29,044,032 (GRCm39) Y1800* probably null Het
Sgce G T 6: 4,707,205 (GRCm39) S213R probably damaging Het
Skic3 C A 13: 76,281,076 (GRCm39) T704N possibly damaging Het
Slc36a2 T C 11: 55,075,865 (GRCm39) probably benign Het
Sult5a1 A T 8: 123,875,146 (GRCm39) D129E probably damaging Het
Tacr1 A T 6: 82,380,913 (GRCm39) H108L probably damaging Het
Tnfsf10 T A 3: 27,389,496 (GRCm39) Y186N probably damaging Het
Unc80 T C 1: 66,688,919 (GRCm39) S2428P possibly damaging Het
Vwf G A 6: 125,654,909 (GRCm39) R2535H Het
Zfp532 A G 18: 65,756,128 (GRCm39) I20M 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
R9003:Ldhd UTSW 8 112,356,894 (GRCm39) missense probably benign
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'- CAGTCCGATGCCATGTTCTC -3'
(R):5'- CTGCCAGAGATCTTGGTAGAG -3'

Sequencing Primer
(F):5'- GATGCCATGTTCTCCAGTGCATG -3'
(R):5'- GACCAAGGAGGAGATTAAAGCTTC -3'
Posted On 2022-04-18