Incidental Mutation 'R2071:Oxsm'
ID 227168
Institutional Source Beutler Lab
Gene Symbol Oxsm
Ensembl Gene ENSMUSG00000021786
Gene Name 3-oxoacyl-ACP synthase, mitochondrial
Synonyms 4933425A18Rik
MMRRC Submission 040076-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2071 (G1)
Quality Score 185
Status Not validated
Chromosome 14
Chromosomal Location 6219955-6231111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16241983 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 262 (L262P)
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: L262P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: L262P

DomainStartEndE-ValueType
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: L262P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: L262P

DomainStartEndE-ValueType
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: L262P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: L262P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,422,474 (GRCm39) H283Q probably damaging Het
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Adam33 T C 2: 130,897,266 (GRCm39) T310A probably benign Het
Afm A G 5: 90,671,594 (GRCm39) D92G probably benign Het
Arg1 C T 10: 24,798,561 (GRCm39) A30T probably benign Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
Atg2a T C 19: 6,307,488 (GRCm39) V1474A probably benign Het
Atp12a A G 14: 56,603,466 (GRCm39) K24E probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cep295 T C 9: 15,252,860 (GRCm39) R323G probably damaging Het
Chek2 T C 5: 110,989,112 (GRCm39) probably benign Het
Chga A T 12: 102,529,122 (GRCm39) K366N probably damaging Het
Chrm5 T C 2: 112,309,572 (GRCm39) K515E probably null Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Eif1ad8 T A 12: 87,563,822 (GRCm39) F52L probably benign Het
Fzd3 A G 14: 65,473,012 (GRCm39) F252S probably damaging Het
Gas2l2 T C 11: 83,312,775 (GRCm39) K846E probably benign Het
Gpatch11 T C 17: 79,148,514 (GRCm39) probably null Het
Gucy2g T A 19: 55,210,772 (GRCm39) Y661F possibly damaging Het
Hhip A G 8: 80,783,931 (GRCm39) F72L probably benign Het
Kat14 T C 2: 144,231,136 (GRCm39) L181P probably damaging Het
Kifc3 A T 8: 95,834,981 (GRCm39) probably null Het
Kntc1 G T 5: 123,932,340 (GRCm39) probably null Het
Man2b1 G T 8: 85,812,013 (GRCm39) V156L possibly damaging Het
Mast1 T C 8: 85,647,823 (GRCm39) D517G probably damaging Het
Mc1r T C 8: 124,135,108 (GRCm39) L287P possibly damaging Het
Mctp1 A T 13: 76,907,843 (GRCm39) E238V probably damaging Het
Mmp12 T A 9: 7,349,725 (GRCm39) I52N probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Nap1l1 C T 10: 111,328,761 (GRCm39) T230I possibly damaging Het
Niban1 T C 1: 151,512,181 (GRCm39) F28L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Nudt13 T A 14: 20,354,045 (GRCm39) D36E probably damaging Het
Pde10a A T 17: 9,180,827 (GRCm39) I754F probably benign Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Polr1a T A 6: 71,953,058 (GRCm39) V567E possibly damaging Het
Pou3f2 A G 4: 22,488,076 (GRCm39) V19A probably benign Het
Pramel34 T G 5: 93,784,375 (GRCm39) Q363P probably damaging Het
Pth1r A G 9: 110,556,081 (GRCm39) I264T probably benign Het
Ptprn C A 1: 75,231,788 (GRCm39) G504C probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rev3l T A 10: 39,700,349 (GRCm39) D1615E probably benign Het
Rhob A G 12: 8,549,232 (GRCm39) M134T probably benign Het
Slc10a4 T C 5: 73,164,840 (GRCm39) L144P probably damaging Het
Slc45a3 T C 1: 131,905,370 (GRCm39) L131P probably damaging Het
Slf1 T A 13: 77,252,743 (GRCm39) E259D probably benign Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Sorl1 T C 9: 41,890,753 (GRCm39) D1922G possibly damaging Het
Spats2l T A 1: 57,979,623 (GRCm39) I243N possibly damaging Het
Specc1 A C 11: 62,008,701 (GRCm39) K152N probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tcstv2b A T 13: 120,373,836 (GRCm39) D151E probably benign Het
Tep1 T C 14: 51,091,739 (GRCm39) K601E probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ttc39d G A 17: 80,524,030 (GRCm39) G230R probably damaging Het
Tubb2b T A 13: 34,312,244 (GRCm39) Y183F probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Vcp A G 4: 42,995,894 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,658,995 (GRCm39) F70L probably benign Het
Vmn1r49 C T 6: 90,049,184 (GRCm39) V273I probably benign Het
Vmn2r103 A T 17: 20,014,056 (GRCm39) I283L probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfp408 A G 2: 91,476,363 (GRCm39) F364L probably damaging Het
Zfyve26 A G 12: 79,334,220 (GRCm39) L266P possibly damaging Het
Other mutations in Oxsm
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CAACCGTTCTTTACCTTAAAGCAC -3'
(R):5'- TCGCTACAAACTCAAGGGCC -3'

Sequencing Primer
(F):5'- AAAGCACCTTCTCCTTCGGG -3'
(R):5'- AGGGCCCCAATCACTCAGTG -3'
Posted On 2014-09-17