Incidental Mutation 'IGL03108:Oxct1'
| ID |
419065 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oxct1
|
| Ensembl Gene |
ENSMUSG00000022186 |
| Gene Name |
3-oxoacid CoA transferase 1 |
| Synonyms |
Scot-s, 2610008O03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4064764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 34
(V34D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110690]
[ENSMUST00000138927]
|
| AlphaFold |
Q9D0K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110690
AA Change: V34D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: V34D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
CoA_trans
|
43 |
272 |
2.41e-86 |
SMART |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
CoA_trans
|
303 |
501 |
5.18e-77 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138927
AA Change: V34D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: V34D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
CoA_trans
|
43 |
272 |
2.41e-86 |
SMART |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
CoA_trans
|
303 |
484 |
3.1e-57 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperketonemia, ketoacidosis, increased glucose oxidation in the brain, increased autophagy in the brain, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
| Armh3 |
G |
A |
19: 45,808,792 (GRCm39) |
T633I |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
| Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
| Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
| Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,770,747 (GRCm39) |
D33E |
possibly damaging |
Het |
| Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
| Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
| Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
| Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
| Ints4 |
G |
T |
7: 97,140,137 (GRCm39) |
|
probably null |
Het |
| Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
| Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,596 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
| Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
| Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
| Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
| Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
| Slc39a14 |
G |
A |
14: 70,556,368 (GRCm39) |
R3W |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
| Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
possibly damaging |
Het |
|
| Other mutations in Oxct1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Oxct1
|
APN |
15 |
4,125,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00870:Oxct1
|
APN |
15 |
4,131,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01068:Oxct1
|
APN |
15 |
4,083,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01681:Oxct1
|
APN |
15 |
4,131,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02040:Oxct1
|
APN |
15 |
4,056,250 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02149:Oxct1
|
APN |
15 |
4,120,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02327:Oxct1
|
APN |
15 |
4,066,571 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03146:Oxct1
|
APN |
15 |
4,130,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03195:Oxct1
|
APN |
15 |
4,130,671 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
kettle
|
UTSW |
15 |
4,064,812 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1169:Oxct1
|
UTSW |
15 |
4,120,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Oxct1
|
UTSW |
15 |
4,177,057 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2011:Oxct1
|
UTSW |
15 |
4,183,243 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2069:Oxct1
|
UTSW |
15 |
4,122,007 (GRCm39) |
missense |
probably null |
0.99 |
|
R3691:Oxct1
|
UTSW |
15 |
4,076,999 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3930:Oxct1
|
UTSW |
15 |
4,066,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3931:Oxct1
|
UTSW |
15 |
4,066,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5137:Oxct1
|
UTSW |
15 |
4,064,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5165:Oxct1
|
UTSW |
15 |
4,083,251 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5554:Oxct1
|
UTSW |
15 |
4,120,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5650:Oxct1
|
UTSW |
15 |
4,172,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6225:Oxct1
|
UTSW |
15 |
4,064,812 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6294:Oxct1
|
UTSW |
15 |
4,172,304 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6395:Oxct1
|
UTSW |
15 |
4,056,309 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6736:Oxct1
|
UTSW |
15 |
4,121,899 (GRCm39) |
missense |
probably benign |
|
|
R7195:Oxct1
|
UTSW |
15 |
4,158,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7204:Oxct1
|
UTSW |
15 |
4,123,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Oxct1
|
UTSW |
15 |
4,077,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8085:Oxct1
|
UTSW |
15 |
4,158,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8702:Oxct1
|
UTSW |
15 |
4,183,243 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8871:Oxct1
|
UTSW |
15 |
4,064,763 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8956:Oxct1
|
UTSW |
15 |
4,064,806 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Oxct1
|
UTSW |
15 |
4,123,541 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Oxct1
|
UTSW |
15 |
4,089,473 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2016-08-02 |
Incidental Mutation