Incidental Mutation 'R6856:Ldhd'
ID 535260
Institutional Source Beutler Lab
Gene Symbol Ldhd
Ensembl Gene ENSMUSG00000031958
Gene Name lactate dehydrogenase D
Synonyms D8Bwg1320e, 4733401P21Rik
MMRRC Submission 044958-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R6856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 112352250-112356968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112356906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 13 (S13P)
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: S13P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: S13P

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,205,755 (GRCm39) M156V probably benign Het
Aire A T 10: 77,866,089 (GRCm39) F546I probably damaging Het
Ankk1 T C 9: 49,331,320 (GRCm39) E230G probably benign Het
Anp32a A T 9: 62,279,397 (GRCm39) K86N possibly damaging Het
Aqp4 T C 18: 15,532,953 (GRCm39) I47V possibly damaging Het
Arap3 A G 18: 38,112,916 (GRCm39) V1098A possibly damaging Het
Ascc3 T A 10: 50,625,158 (GRCm39) W1652R probably damaging Het
Atad2 T A 15: 57,970,209 (GRCm39) H464L probably damaging Het
Brca2 C A 5: 150,463,673 (GRCm39) H1146N possibly damaging Het
Capn9 G A 8: 125,324,308 (GRCm39) V203M probably damaging Het
Ccr6 T A 17: 8,474,881 (GRCm39) S29T probably benign Het
Cfap99 G T 5: 34,467,561 (GRCm39) probably null Het
Cpt1c C T 7: 44,609,342 (GRCm39) G716S probably damaging Het
Dhx29 A T 13: 113,089,395 (GRCm39) Q722L probably benign Het
Dmxl1 C T 18: 49,985,355 (GRCm39) R201* probably null Het
Dsg2 G A 18: 20,734,859 (GRCm39) G946S probably damaging Het
Erg C A 16: 95,169,510 (GRCm39) probably null Het
Fbxo32 G A 15: 58,078,037 (GRCm39) probably benign Het
Gask1b G T 3: 79,793,448 (GRCm39) probably benign Het
Glis1 T G 4: 107,293,076 (GRCm39) D66E probably damaging Het
Grm6 A T 11: 50,750,652 (GRCm39) N605I probably damaging Het
Gtf3c6 T C 10: 40,125,668 (GRCm39) E183G probably benign Het
Herc1 A G 9: 66,305,180 (GRCm39) M861V probably benign Het
Igkv12-41 A T 6: 69,835,513 (GRCm39) S80T probably damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnt2 T C 1: 140,523,742 (GRCm39) S1057P probably damaging Het
Krt36 T G 11: 99,994,216 (GRCm39) Q287P probably damaging Het
Lmtk3 T A 7: 45,443,721 (GRCm39) probably benign Het
Lrp2 A T 2: 69,343,612 (GRCm39) F916I probably damaging Het
Map4k1 A T 7: 28,686,259 (GRCm39) I92F probably damaging Het
Naa25 A T 5: 121,576,867 (GRCm39) K872M probably damaging Het
Nek3 C A 8: 22,619,463 (GRCm39) G443V probably damaging Het
Noxred1 T C 12: 87,273,810 (GRCm39) E77G probably benign Het
Nup210 G A 6: 91,064,895 (GRCm39) Q202* probably null Het
Or52d1 A T 7: 103,755,998 (GRCm39) M171L probably benign Het
Or8k27 G T 2: 86,276,251 (GRCm39) S25Y probably benign Het
Pax3 A G 1: 78,109,056 (GRCm39) S201P probably damaging Het
Pcdhgb5 T A 18: 37,866,457 (GRCm39) Y751N probably benign Het
Pign A T 1: 105,481,620 (GRCm39) L792* probably null Het
Pkd1 T C 17: 24,792,467 (GRCm39) F1385L probably benign Het
Plxnb2 A C 15: 89,048,523 (GRCm39) C629G probably benign Het
Prpsap2 A T 11: 61,621,097 (GRCm39) I328N probably benign Het
Prrc2c A G 1: 162,509,940 (GRCm39) L2317P probably damaging Het
Ptgfrn T C 3: 100,952,762 (GRCm39) D824G probably damaging Het
Ptpra G A 2: 130,361,301 (GRCm39) S204N probably damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rap1a A G 3: 105,639,384 (GRCm39) F92L probably damaging Het
Slmap A T 14: 26,151,247 (GRCm39) probably null Het
Spdye4c A G 2: 128,438,050 (GRCm39) probably null Het
Speer4a3 A G 5: 26,155,843 (GRCm39) I167T probably benign Het
Stk11 C A 10: 79,963,924 (GRCm39) F97L probably benign Het
Tbc1d9b G A 11: 50,059,573 (GRCm39) A992T probably benign Het
Tmem232 G A 17: 65,757,305 (GRCm39) T296M possibly damaging Het
Trim33 C T 3: 103,259,365 (GRCm39) T1018M probably damaging Het
Trpv2 A C 11: 62,475,441 (GRCm39) I285L probably benign Het
Usp46 A G 5: 74,189,595 (GRCm39) probably benign Het
Vmn1r27 T A 6: 58,192,432 (GRCm39) M191L possibly damaging Het
Vwf G T 6: 125,619,113 (GRCm39) E1264* probably null Het
Zfp109 A T 7: 23,928,823 (GRCm39) N195K probably benign Het
Zfp385b T A 2: 77,246,138 (GRCm39) L208F probably damaging Het
Zfp839 T A 12: 110,833,195 (GRCm39) Y515* probably null 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
R7916:Ldhd UTSW 8 112,356,023 (GRCm39) missense possibly damaging 0.87
R9003:Ldhd UTSW 8 112,356,894 (GRCm39) missense probably benign
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'- GGTCATCGGAAAGACAGTCG -3'
(R):5'- TGTAACACGTGAAGTAGCTGTTG -3'

Sequencing Primer
(F):5'- TCGGAGGGAGCCACAGAC -3'
(R):5'- CACGTGAAGTAGCTGTTGTCCTTC -3'
Posted On 2018-09-12