Incidental Mutation 'IGL00656:Dld'
| ID |
13416 |
| 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)
|
| Stock # |
IGL00656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31381561-31401470 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 31399594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110857]
|
| AlphaFold |
O08749 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110857
|
| SMART Domains |
Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000220415
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
A |
T |
6: 7,680,215 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,933,118 (GRCm39) |
I814V |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,493 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,359 (GRCm39) |
I232M |
possibly damaging |
Het |
| Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,599,598 (GRCm39) |
|
probably null |
Het |
| Lrp3 |
T |
C |
7: 34,905,453 (GRCm39) |
|
probably benign |
Het |
| Mmp27 |
A |
C |
9: 7,581,383 (GRCm39) |
T549P |
possibly damaging |
Het |
| Oas1d |
A |
G |
5: 121,057,270 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,609 (GRCm39) |
D205G |
probably damaging |
Het |
| Rbm39 |
A |
G |
2: 156,004,791 (GRCm39) |
V181A |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,721,982 (GRCm39) |
V1066A |
possibly damaging |
Het |
| Strbp |
T |
C |
2: 37,493,150 (GRCm39) |
|
probably benign |
Het |
| Tor1aip1 |
T |
C |
1: 155,907,213 (GRCm39) |
N187S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,984 (GRCm39) |
T369A |
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,095,791 (GRCm39) |
A1242V |
probably null |
Het |
|
| Other mutations in Dld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Dld
|
APN |
12 |
31,385,576 (GRCm39) |
missense |
probably benign |
|
|
IGL00907:Dld
|
APN |
12 |
31,382,329 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01870:Dld
|
APN |
12 |
31,385,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2012-12-06 |
Incidental Mutation