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)
|
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
Domain | Start | End | E-Value | Type |
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
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 |
probably benign
Transcript: ENSMUST00000169088
|
SMART Domains |
Protein: ENSMUSP00000132778 Gene: ENSMUSG00000002900
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |