Incidental Mutation 'IGL01966:Oxsm'
| ID |
181521 |
| 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 # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
6219955-6231111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16242520 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 83
(N83S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022311]
[ENSMUST00000112624]
[ENSMUST00000112625]
|
| AlphaFold |
Q9D404 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022311
AA Change: N83S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: N83S
| 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 benign
Transcript: ENSMUST00000112624
AA Change: N83S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: N83S
| 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 benign
Transcript: ENSMUST00000112625
AA Change: N83S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: N83S
| 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 |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Emx2 |
T |
A |
19: 59,448,021 (GRCm39) |
I24N |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
| Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
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 |
|
IGL00900:Oxsm
|
APN |
14 |
16,242,023 (GRCm38) |
missense |
probably damaging |
0.96 |
|
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 |
2014-05-07 |
Incidental Mutation