Incidental Mutation 'IGL00900:Oxsm'
ID |
28922 |
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 # |
IGL00900
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
6219955-6231111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16242023 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
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: S249P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022311 Gene: ENSMUSG00000021786 AA Change: S249P
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: S249P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108243 Gene: ENSMUSG00000021786 AA Change: S249P
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: S249P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108244 Gene: ENSMUSG00000021786 AA Change: S249P
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
Other mutations in Oxsm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Oxsm
|
APN |
14 |
16,242,076 (GRCm38) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |