Incidental Mutation 'IGL01068:Oxct1'
ID |
52763 |
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 # |
IGL01068
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
4055910-4184826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4083246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 155
(F155S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110690]
[ENSMUST00000138927]
|
AlphaFold |
Q9D0K2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110690
AA Change: F155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106318 Gene: ENSMUSG00000022186 AA Change: F155S
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 |
noncoding transcript
Transcript: ENSMUST00000131240
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138927
AA Change: F155S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116343 Gene: ENSMUSG00000022186 AA Change: F155S
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
probably 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 |
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 |
|
IGL03108:Oxct1
|
APN |
15 |
4,064,764 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2013-06-21 |