Incidental Mutation 'R1087:Dlst'
| ID |
85084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlst
|
| Ensembl Gene |
ENSMUSG00000004789 |
| Gene Name |
dihydrolipoamide S-succinyltransferase |
| Synonyms |
4930529O08Rik, 1600017E01Rik, 4632413C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1087 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85157597-85180865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85179413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 417
(M417I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019379]
[ENSMUST00000053811]
[ENSMUST00000221357]
[ENSMUST00000221972]
[ENSMUST00000223332]
|
| AlphaFold |
Q9D2G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019379
|
| SMART Domains |
Protein: ENSMUSP00000019379
Gene: ENSMUSG00000019235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
MIT
|
46 |
123 |
8.99e-25 |
SMART |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
178 |
519 |
1.9e-12 |
PFAM |
|
Pfam:Pkinase
|
367 |
534 |
1.1e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053811
AA Change: M417I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789
AA Change: M417I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Biotin_lipoyl
|
72 |
144 |
1.7e-22 |
PFAM |
|
low complexity region
|
149 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
217 |
N/A |
INTRINSIC |
|
Pfam:2-oxoacid_dh
|
221 |
452 |
2.3e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220633
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221357
AA Change: M417I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223438
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice heterozygous for a gene trap allele exhibit an accelerates amyloid pathology and memory deficit in a transgenic mouse model of amyloid deposition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
| Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
| Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,117,881 (GRCm39) |
Y130H |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
| Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,639 (GRCm39) |
T213A |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,645,848 (GRCm39) |
Y130C |
probably damaging |
Het |
| Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
| Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
| Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
| Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,534,727 (GRCm39) |
V266A |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,927,633 (GRCm39) |
E226G |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dlst |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02120:Dlst
|
APN |
12 |
85,165,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02150:Dlst
|
APN |
12 |
85,177,807 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02223:Dlst
|
APN |
12 |
85,177,692 (GRCm39) |
missense |
probably benign |
0.13 |
|
I1329:Dlst
|
UTSW |
12 |
85,170,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Dlst
|
UTSW |
12 |
85,165,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Dlst
|
UTSW |
12 |
85,170,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Dlst
|
UTSW |
12 |
85,179,465 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4705:Dlst
|
UTSW |
12 |
85,165,616 (GRCm39) |
splice site |
probably null |
|
|
R5457:Dlst
|
UTSW |
12 |
85,168,914 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6039:Dlst
|
UTSW |
12 |
85,165,664 (GRCm39) |
splice site |
probably null |
|
|
R6039:Dlst
|
UTSW |
12 |
85,165,664 (GRCm39) |
splice site |
probably null |
|
|
R6422:Dlst
|
UTSW |
12 |
85,177,659 (GRCm39) |
splice site |
probably null |
|
|
R7078:Dlst
|
UTSW |
12 |
85,157,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7366:Dlst
|
UTSW |
12 |
85,175,089 (GRCm39) |
missense |
probably benign |
|
|
R7900:Dlst
|
UTSW |
12 |
85,177,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9319:Dlst
|
UTSW |
12 |
85,170,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlst
|
UTSW |
12 |
85,157,667 (GRCm39) |
utr 5 prime |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAACAAACCTCTGTGGGTAAC -3'
(R):5'- GCCAATAGTATGTGCCTGCCTGTC -3'
Sequencing Primer
(F):5'- CTGTAGAGCACAGTGTAGCTTAC -3'
(R):5'- CATCAGGCTAACCTGGGATTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation