Incidental Mutation 'IGL00499:Oxsm'
| ID |
5907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Oxsm
|
| Ensembl Gene |
ENSMUSG00000021786 |
| Gene Name |
3-oxoacyl-ACP synthase, mitochondrial |
| Synonyms |
4933425A18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
6219955-6231111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16242076 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 231
(M231K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022311]
[ENSMUST00000112624]
[ENSMUST00000112625]
|
| AlphaFold |
Q9D404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022311
AA Change: M231K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ketoacyl-synt
|
41 |
291 |
6.7e-61 |
PFAM |
|
Pfam:Ketoacyl-synt_C
|
299 |
414 |
3.6e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112624
AA Change: M231K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ketoacyl-synt
|
41 |
291 |
2.8e-60 |
PFAM |
|
Pfam:Ketoacyl-synt_C
|
299 |
414 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112625
AA Change: M231K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: M231K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ketoacyl-synt
|
41 |
291 |
2.8e-60 |
PFAM |
|
Pfam:Ketoacyl-synt_C
|
299 |
414 |
1.7e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148121
|
| SMART Domains |
Protein: ENSMUSP00000122364
Gene: ENSMUSG00000021786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ketoacyl-synt
|
41 |
198 |
9.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225889
|
| 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 beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
| Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Oxsm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Oxsm
|
APN |
14 |
16,242,023 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01966:Oxsm
|
APN |
14 |
16,242,520 (GRCm38) |
missense |
probably benign |
|
|
R0731:Oxsm
|
UTSW |
14 |
16,240,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2070:Oxsm
|
UTSW |
14 |
16,241,983 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2071:Oxsm
|
UTSW |
14 |
16,241,983 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4172:Oxsm
|
UTSW |
14 |
16,242,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5473:Oxsm
|
UTSW |
14 |
16,242,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6048:Oxsm
|
UTSW |
14 |
16,242,308 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6301:Oxsm
|
UTSW |
14 |
16,242,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6415:Oxsm
|
UTSW |
14 |
16,241,904 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6662:Oxsm
|
UTSW |
14 |
16,242,287 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7490:Oxsm
|
UTSW |
14 |
16,241,066 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7782:Oxsm
|
UTSW |
14 |
16,240,925 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8085:Oxsm
|
UTSW |
14 |
16,242,439 (GRCm38) |
nonsense |
probably null |
|
|
R8699:Oxsm
|
UTSW |
14 |
16,242,631 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8896:Oxsm
|
UTSW |
14 |
16,242,677 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9406:Oxsm
|
UTSW |
14 |
16,242,531 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9643:Oxsm
|
UTSW |
14 |
16,241,000 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9778:Oxsm
|
UTSW |
14 |
16,242,629 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2012-04-20 |
Incidental Mutation