Incidental Mutation 'R6422:Dlst'
| ID |
518219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlst
|
| Ensembl Gene |
ENSMUSG00000004789 |
| Gene Name |
dihydrolipoamide S-succinyltransferase |
| Synonyms |
4930529O08Rik, 1600017E01Rik, 4632413C10Rik |
| MMRRC Submission |
044563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6422 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85157597-85180865 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 85177659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060346
(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 null
Transcript: ENSMUST00000053811
|
| SMART Domains |
Protein: ENSMUSP00000060346
Gene: ENSMUSG00000004789
| 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 benign
Transcript: ENSMUST00000221357
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000223413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223438
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
T |
A |
4: 154,045,381 (GRCm39) |
F137I |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
| Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
| Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
| Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
| Gm14443 |
G |
A |
2: 175,012,174 (GRCm39) |
Q91* |
probably null |
Het |
| Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
| Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
| Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
| Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
| Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
| Or51v14 |
T |
G |
7: 103,261,221 (GRCm39) |
E113A |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,820,332 (GRCm39) |
M697K |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
| Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
| Tmprss11d |
T |
A |
5: 86,457,284 (GRCm39) |
Y125F |
probably damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
| Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
probably damaging |
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 |
|
R1087:Dlst
|
UTSW |
12 |
85,179,413 (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 |
|
|
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'- TCTAAGGAGAGGCATGTGGC -3'
(R):5'- AAACAATGGTTCCTACCTTGCC -3'
Sequencing Primer
(F):5'- CATGTGGCAGGCAGAGC -3'
(R):5'- TTGCCTCCCACAGCCACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation