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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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