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)
|
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |