Incidental Mutation 'R2906:Oxct2b'
ID |
261648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Oxct2b
|
Ensembl Gene |
ENSMUSG00000076438 |
Gene Name |
3-oxoacid CoA transferase 2B |
Synonyms |
Scot-t2 |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
123010059-123011793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123010823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 248
(I248V)
|
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: I248V
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099708 Gene: ENSMUSG00000076438 AA Change: I248V
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
|
Meta Mutation Damage Score |
0.1571 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Scamp5 |
A |
G |
9: 57,351,146 (GRCm39) |
V172A |
probably damaging |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
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 |
R1365:Oxct2b
|
UTSW |
4 |
123,011,162 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CTAAGTGAGCCGCGAGAAGTAC -3'
(R):5'- CATACATGCCGTCCTGGAACTC -3'
Sequencing Primer
(F):5'- AAGTACGCGAGTTTCAGGGCC -3'
(R):5'- TGGAACTCCAGAGCCGC -3'
|
Posted On |
2015-01-23 |