Incidental Mutation 'R4168:Oxct2b'
| ID |
320650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxct2b
|
| Ensembl Gene |
ENSMUSG00000076438 |
| Gene Name |
3-oxoacid CoA transferase 2B |
| Synonyms |
Scot-t2 |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
123010059-123011793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123011478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 466
(L466P)
|
| 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 damaging
Transcript: ENSMUST00000102648
AA Change: L466P
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438
AA Change: L466P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
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 |
|
R2906:Oxct2b
|
UTSW |
4 |
123,010,823 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- TTGGGGCCATGCAAGTTTC -3'
(R):5'- CTGGAAAATCAGCCCTGGAG -3'
Sequencing Primer
(F):5'- GCAAGTTTCTCAATACGGCG -3'
(R):5'- GATGTCATCTACCGACGA -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation