Incidental Mutation 'IGL01870:Dld'
ID 178680
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dld
Ensembl Gene ENSMUSG00000020664
Gene Name dihydrolipoamide dehydrogenase
Synonyms branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL01870
Quality Score
Status
Chromosome 12
Chromosomal Location 31381561-31401470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31385466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 292 (S292P)
Ref Sequence ENSEMBL: ENSMUSP00000106481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110857]
AlphaFold O08749
Predicted Effect possibly damaging
Transcript: ENSMUST00000110857
AA Change: S292P

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
AA Change: S292P

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 42 370 2.3e-71 PFAM
Pfam:FAD_binding_2 43 83 2.5e-7 PFAM
Pfam:GIDA 43 111 1.7e-8 PFAM
Pfam:FAD_oxidored 43 135 4.3e-10 PFAM
Pfam:NAD_binding_8 46 100 1.4e-6 PFAM
Pfam:Pyr_redox 215 298 4.9e-17 PFAM
Pfam:Pyr_redox_dim 389 498 1.6e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219213
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. [provided by RefSeq, Jan 2014]
PHENOTYPE: Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,565,310 (GRCm39) D125G probably damaging Het
Arhgap31 T C 16: 38,438,604 (GRCm39) K300E probably damaging Het
Cma2 C A 14: 56,211,194 (GRCm39) S162Y probably benign Het
Cntn4 A G 6: 106,466,676 (GRCm39) T193A possibly damaging Het
Col22a1 T A 15: 71,824,377 (GRCm39) M556L probably benign Het
Dnah6 A T 6: 73,009,552 (GRCm39) D3746E probably benign Het
Eea1 A G 10: 95,809,848 (GRCm39) T9A probably damaging Het
Eeig1 T C 2: 32,456,294 (GRCm39) S319P probably benign Het
Gbf1 A G 19: 46,274,108 (GRCm39) K1714R probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
H2-M1 A T 17: 36,980,955 (GRCm39) M327K probably benign Het
Ifnz T A 4: 88,701,548 (GRCm39) S176T possibly damaging Het
Irak4 T C 15: 94,445,751 (GRCm39) Y10H probably benign Het
Irx5 T C 8: 93,086,405 (GRCm39) F163L probably damaging Het
Jak3 C T 8: 72,133,434 (GRCm39) P376S probably damaging Het
Lrrc25 T C 8: 71,070,437 (GRCm39) S73P possibly damaging Het
Macf1 C T 4: 123,367,906 (GRCm39) G2285D probably damaging Het
Muc4 A T 16: 32,574,624 (GRCm39) T1025S probably benign Het
Mylk2 A G 2: 152,757,134 (GRCm39) N303S probably benign Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Pcnx1 T C 12: 82,022,667 (GRCm39) V1512A probably benign Het
Phlda3 A G 1: 135,694,376 (GRCm39) S64G probably benign Het
Pptc7 C A 5: 122,451,665 (GRCm39) S40R probably damaging Het
Pramel19 T A 4: 101,797,887 (GRCm39) L95H probably benign Het
Ptpn4 A C 1: 119,603,277 (GRCm39) probably null Het
Slc10a1 T C 12: 81,007,302 (GRCm39) M160V probably benign Het
Stac T C 9: 111,401,400 (GRCm39) I349V probably benign Het
Synm A G 7: 67,385,866 (GRCm39) S157P possibly damaging Het
Tbc1d9b T C 11: 50,052,915 (GRCm39) L924P probably damaging Het
Tcaf2 C T 6: 42,601,411 (GRCm39) V883I possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Whamm C T 7: 81,245,722 (GRCm39) T726I probably damaging Het
Other mutations in Dld
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Dld APN 12 31,385,576 (GRCm39) missense probably benign
IGL00656:Dld APN 12 31,399,594 (GRCm39) critical splice donor site probably null
IGL00907:Dld APN 12 31,382,329 (GRCm39) unclassified probably benign
IGL02654:Dld APN 12 31,383,916 (GRCm39) missense probably benign 0.19
IGL02666:Dld APN 12 31,382,408 (GRCm39) missense probably null 0.00
PIT4544001:Dld UTSW 12 31,385,556 (GRCm39) nonsense probably null
R0973:Dld UTSW 12 31,384,053 (GRCm39) missense probably damaging 1.00
R1748:Dld UTSW 12 31,384,745 (GRCm39) missense probably benign
R2225:Dld UTSW 12 31,391,448 (GRCm39) missense probably benign 0.01
R4614:Dld UTSW 12 31,383,944 (GRCm39) nonsense probably null
R5933:Dld UTSW 12 31,383,982 (GRCm39) missense probably benign 0.00
R5966:Dld UTSW 12 31,390,325 (GRCm39) missense probably damaging 1.00
R6088:Dld UTSW 12 31,390,988 (GRCm39) missense probably benign
R6190:Dld UTSW 12 31,394,847 (GRCm39) missense probably damaging 1.00
R6327:Dld UTSW 12 31,382,190 (GRCm39) missense probably benign
R6750:Dld UTSW 12 31,382,213 (GRCm39) missense probably benign 0.00
R7149:Dld UTSW 12 31,385,589 (GRCm39) missense probably benign
R7414:Dld UTSW 12 31,385,525 (GRCm39) missense probably damaging 1.00
R7730:Dld UTSW 12 31,390,864 (GRCm39) missense probably benign 0.00
R8944:Dld UTSW 12 31,390,868 (GRCm39) missense possibly damaging 0.92
R8989:Dld UTSW 12 31,383,458 (GRCm39) missense probably damaging 1.00
R9198:Dld UTSW 12 31,390,885 (GRCm39) missense probably benign 0.28
R9619:Dld UTSW 12 31,382,390 (GRCm39) nonsense probably null
X0065:Dld UTSW 12 31,391,388 (GRCm39) nonsense probably null
Posted On 2014-05-07