Incidental Mutation 'R1365:Oxct2b'
ID |
155996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oxct2b
|
Ensembl Gene |
ENSMUSG00000076438 |
Gene Name |
3-oxoacid CoA transferase 2B |
Synonyms |
Scot-t2 |
MMRRC Submission |
039430-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R1365 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
123010059-123011793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123011162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 361
(V361I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002457]
[ENSMUST00000102648]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002457
|
SMART Domains |
Protein: ENSMUSP00000002457 Gene: ENSMUSG00000002384
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
26 |
248 |
2.7e-62 |
PFAM |
TGFB
|
298 |
399 |
2.83e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102648
AA Change: V361I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099708 Gene: ENSMUSG00000076438 AA Change: V361I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
CoA_trans
|
43 |
272 |
2.02e-79 |
SMART |
CoA_trans
|
301 |
499 |
5.07e-71 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192482
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194481
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
Gtf2b |
T |
C |
3: 142,477,227 (GRCm39) |
I33T |
probably damaging |
Het |
Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
Het |
|
Other mutations in Oxct2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00552:Oxct2b
|
APN |
4 |
123,011,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Oxct2b
|
UTSW |
4 |
123,010,705 (GRCm39) |
small deletion |
probably benign |
|
R0504:Oxct2b
|
UTSW |
4 |
123,010,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0543:Oxct2b
|
UTSW |
4 |
123,010,782 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1167:Oxct2b
|
UTSW |
4 |
123,011,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R1891:Oxct2b
|
UTSW |
4 |
123,010,938 (GRCm39) |
missense |
probably benign |
0.01 |
R2311:Oxct2b
|
UTSW |
4 |
123,011,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R2906:Oxct2b
|
UTSW |
4 |
123,010,823 (GRCm39) |
missense |
probably benign |
0.12 |
R4168:Oxct2b
|
UTSW |
4 |
123,011,478 (GRCm39) |
missense |
probably damaging |
0.96 |
R4657:Oxct2b
|
UTSW |
4 |
123,010,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R6159:Oxct2b
|
UTSW |
4 |
123,011,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R6221:Oxct2b
|
UTSW |
4 |
123,010,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R6271:Oxct2b
|
UTSW |
4 |
123,011,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6357:Oxct2b
|
UTSW |
4 |
123,010,709 (GRCm39) |
missense |
probably benign |
0.00 |
R6389:Oxct2b
|
UTSW |
4 |
123,010,367 (GRCm39) |
missense |
probably benign |
0.21 |
R6996:Oxct2b
|
UTSW |
4 |
123,011,480 (GRCm39) |
missense |
probably benign |
0.05 |
R7210:Oxct2b
|
UTSW |
4 |
123,010,069 (GRCm39) |
start gained |
probably benign |
|
R7655:Oxct2b
|
UTSW |
4 |
123,011,550 (GRCm39) |
missense |
probably benign |
0.16 |
R7656:Oxct2b
|
UTSW |
4 |
123,011,550 (GRCm39) |
missense |
probably benign |
0.16 |
R7849:Oxct2b
|
UTSW |
4 |
123,010,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Oxct2b
|
UTSW |
4 |
123,010,447 (GRCm39) |
nonsense |
probably null |
|
R8094:Oxct2b
|
UTSW |
4 |
123,010,301 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8936:Oxct2b
|
UTSW |
4 |
123,010,838 (GRCm39) |
missense |
probably benign |
0.00 |
R8979:Oxct2b
|
UTSW |
4 |
123,011,169 (GRCm39) |
missense |
probably benign |
0.23 |
R9365:Oxct2b
|
UTSW |
4 |
123,010,589 (GRCm39) |
missense |
probably benign |
0.03 |
R9523:Oxct2b
|
UTSW |
4 |
123,011,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Oxct2b
|
UTSW |
4 |
123,010,413 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9612:Oxct2b
|
UTSW |
4 |
123,011,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCAAAGACAATGACCCTTCCAG -3'
(R):5'- TCAGTGATGATGAGGTCCACGCAG -3'
Sequencing Primer
(F):5'- TTCCAGGACGCGCATCATC -3'
(R):5'- CAACGGCATGGTGCATTTC -3'
|
Posted On |
2014-02-11 |