Incidental Mutation 'IGL02654:Dld'
ID 302273
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 # IGL02654
Quality Score
Status
Chromosome 12
Chromosomal Location 31381561-31401470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31383916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 396 (H396N)
Ref Sequence ENSEMBL: ENSMUSP00000106481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002979] [ENSMUST00000110857] [ENSMUST00000169088]
AlphaFold O08749
Predicted Effect probably benign
Transcript: ENSMUST00000002979
SMART Domains Protein: ENSMUSP00000002979
Gene: ENSMUSG00000002900

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
LamNT 77 317 3.24e-96 SMART
EGF_Lam 319 380 1.34e-6 SMART
EGF_Lam 383 443 1.33e-10 SMART
EGF_Lam 446 503 2.89e-11 SMART
EGF_Lam 506 555 2.89e-11 SMART
EGF_Lam 558 602 3.4e-8 SMART
EGF_Lam 821 866 4.99e-15 SMART
EGF_Lam 869 912 2.38e-12 SMART
EGF_Lam 915 962 2.4e-8 SMART
EGF_Lam 965 1021 1.41e-5 SMART
EGF_Lam 1024 1073 4.81e-8 SMART
EGF_Lam 1076 1129 3.81e-11 SMART
EGF_Lam 1132 1177 5.61e-9 SMART
EGF_Lam 1180 1224 2.89e-11 SMART
coiled coil region 1329 1360 N/A INTRINSIC
low complexity region 1468 1480 N/A INTRINSIC
coiled coil region 1497 1551 N/A INTRINSIC
coiled coil region 1600 1826 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110857
AA Change: H396N

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
AA Change: H396N

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 probably benign
Transcript: ENSMUST00000169088
SMART Domains Protein: ENSMUSP00000132778
Gene: ENSMUSG00000002900

DomainStartEndE-ValueType
LamNT 29 269 3.24e-96 SMART
EGF_Lam 271 332 1.34e-6 SMART
EGF_Lam 335 395 1.33e-10 SMART
EGF_Lam 398 455 2.89e-11 SMART
EGF_Lam 458 507 2.89e-11 SMART
EGF_Lam 510 554 3.4e-8 SMART
EGF_Lam 773 818 4.99e-15 SMART
EGF_Lam 821 864 2.38e-12 SMART
EGF_Lam 867 914 2.4e-8 SMART
EGF_Lam 917 973 1.41e-5 SMART
EGF_Lam 976 1025 4.81e-8 SMART
EGF_Lam 1028 1081 3.81e-11 SMART
EGF_Lam 1084 1129 5.61e-9 SMART
EGF_Lam 1132 1176 2.89e-11 SMART
coiled coil region 1281 1312 N/A INTRINSIC
low complexity region 1420 1432 N/A INTRINSIC
coiled coil region 1449 1503 N/A INTRINSIC
coiled coil region 1552 1778 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218624
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,977,826 (GRCm39) I468T possibly damaging Het
Actmap A G 7: 26,903,298 (GRCm39) E289G probably damaging Het
Anxa13 A G 15: 58,205,397 (GRCm39) noncoding transcript Het
Arhgef33 A G 17: 80,677,740 (GRCm39) Y429C probably damaging Het
Bdh1 T C 16: 31,275,433 (GRCm39) probably benign Het
Dennd4a A G 9: 64,817,473 (GRCm39) probably benign Het
Dsg1b T C 18: 20,542,319 (GRCm39) V942A probably damaging Het
Eln A T 5: 134,745,908 (GRCm39) probably benign Het
Fat3 G A 9: 15,908,271 (GRCm39) T2577M possibly damaging Het
Gad1 A T 2: 70,403,125 (GRCm39) K73M possibly damaging Het
Gipc1 T C 8: 84,389,780 (GRCm39) V253A probably damaging Het
Gtpbp10 A C 5: 5,593,372 (GRCm39) probably benign Het
Hgf A T 5: 16,766,049 (GRCm39) T62S probably benign Het
Hivep1 T C 13: 42,311,161 (GRCm39) S1134P probably damaging Het
Hnrnpc A G 14: 52,321,574 (GRCm39) L80S probably damaging Het
Kif20a G A 18: 34,765,076 (GRCm39) R770H probably damaging Het
Lcat T C 8: 106,666,401 (GRCm39) T374A possibly damaging Het
Mlana A G 19: 29,682,018 (GRCm39) probably null Het
Nhsl3 C T 4: 129,116,112 (GRCm39) G851R probably damaging Het
Nynrin A G 14: 56,100,716 (GRCm39) I169V possibly damaging Het
Or2ag15 A T 7: 106,340,555 (GRCm39) Y195* probably null Het
P3h3 A G 6: 124,822,228 (GRCm39) V585A possibly damaging Het
Pcdhb17 T A 18: 37,619,614 (GRCm39) M468K probably benign Het
Prl8a2 T G 13: 27,536,780 (GRCm39) I134S possibly damaging Het
Rev3l T C 10: 39,738,730 (GRCm39) V2828A probably damaging Het
Rhbdd1 G T 1: 82,320,504 (GRCm39) V163F probably benign Het
Rrp1 A G 10: 78,248,773 (GRCm39) V5A probably benign Het
Sephs1 A T 2: 4,889,366 (GRCm39) N48I probably benign Het
Speer4a3 T A 5: 26,158,205 (GRCm39) H49L probably benign Het
Vmn1r71 A G 7: 10,482,242 (GRCm39) Y149H probably benign Het
Wiz T C 17: 32,578,324 (GRCm39) D396G probably damaging Het
Xirp2 A G 2: 67,345,015 (GRCm39) S2419G possibly damaging Het
Zfp128 A G 7: 12,618,606 (GRCm39) T35A possibly damaging Het
Zmym2 T A 14: 57,148,772 (GRCm39) F362Y 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
IGL01870:Dld APN 12 31,385,466 (GRCm39) missense possibly damaging 0.89
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 2015-04-16