Incidental Mutation 'IGL02273:Ldhd'
ID287231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldhd
Ensembl Gene ENSMUSG00000031958
Gene Namelactate dehydrogenase D
SynonymsD8Bwg1320e, 4733401P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02273
Quality Score
Status
Chromosome8
Chromosomal Location111623785-111630374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111627290 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 426 (E426G)
Ref Sequence ENSEMBL: ENSMUSP00000068086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070004] [ENSMUST00000095176] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856] [ENSMUST00000173506] [ENSMUST00000174333] [ENSMUST00000174454]
Predicted Effect probably benign
Transcript: ENSMUST00000070004
AA Change: E426G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: E426G

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 noncoding transcript
Transcript: ENSMUST00000173521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173909
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik T C 7: 126,830,759 T89A probably benign Het
4932438A13Rik T A 3: 36,921,437 probably benign Het
Amhr2 T C 15: 102,452,489 V353A probably benign Het
Bbox1 A T 2: 110,275,616 Y194* probably null Het
Bnipl C A 3: 95,245,775 R131L possibly damaging Het
Casp8ap2 T C 4: 32,643,974 S1016P probably damaging Het
Cblb A G 16: 52,047,294 I88M possibly damaging Het
Cyp24a1 A T 2: 170,496,358 Y89N probably damaging Het
Ddx25 G T 9: 35,546,826 N332K possibly damaging Het
Dnaaf5 C T 5: 139,177,916 Q348* probably null Het
Dnah3 A T 7: 119,951,271 I3264N probably damaging Het
Eml4 T A 17: 83,456,379 probably null Het
Farsa C T 8: 84,867,826 A368V probably damaging Het
Fat1 T C 8: 44,950,331 Y40H probably damaging Het
Glt1d1 T A 5: 127,657,144 probably benign Het
Gm5422 A G 10: 31,250,007 noncoding transcript Het
Gpr135 A G 12: 72,069,958 I345T probably damaging Het
Hmcn2 G A 2: 31,424,377 V3616I probably benign Het
Kif9 A T 9: 110,510,470 K460M probably damaging Het
Mdh1 A T 11: 21,559,786 N196K probably benign Het
Nfkb1 A T 3: 135,605,207 C444S probably benign Het
Pfkfb2 G A 1: 130,707,582 R81C probably damaging Het
Pfpl T C 19: 12,429,963 V526A possibly damaging Het
Phf20l1 T A 15: 66,640,025 V951E probably damaging Het
Pik3cg A T 12: 32,176,810 L1026Q probably damaging Het
Pms1 T C 1: 53,207,997 N263S probably damaging Het
Prkcb T A 7: 122,627,767 F659I probably damaging Het
Prr14 A G 7: 127,475,936 I69M probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Senp5 T C 16: 31,989,872 H161R probably benign Het
Spc25 A G 2: 69,204,929 probably benign Het
Spty2d1 A G 7: 46,997,573 V536A probably damaging Het
Susd2 A G 10: 75,640,938 S84P possibly damaging Het
Tacc1 A C 8: 25,159,781 L768V probably damaging Het
Tbpl2 A T 2: 24,096,519 I5N probably benign Het
Tmc2 A G 2: 130,229,206 D285G probably damaging Het
Tns3 A T 11: 8,434,531 V1429E probably damaging Het
Trmt44 T C 5: 35,574,113 Y190C probably damaging Het
Ubr4 G A 4: 139,472,578 R4591H possibly damaging Het
Zfc3h1 T A 10: 115,427,099 D1739E probably benign Het
Zfp26 A G 9: 20,441,448 V107A probably damaging 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
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
R5747:Ldhd UTSW 8 111629071 missense probably damaging 1.00
R5796:Ldhd UTSW 8 111627090 missense probably benign 0.03
R6856:Ldhd UTSW 8 111630274 missense probably benign 0.17
Z1176:Ldhd UTSW 8 111627520 missense probably damaging 0.99
Posted On2015-04-16