Incidental Mutation 'R6048:Oxsm'
ID 483412
Institutional Source Beutler Lab
Gene Symbol Oxsm
Ensembl Gene ENSMUSG00000021786
Gene Name 3-oxoacyl-ACP synthase, mitochondrial
Synonyms 4933425A18Rik
MMRRC Submission 044216-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6048 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 6219955-6231111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16242308 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 154 (M154L)
Ref Sequence ENSEMBL: ENSMUSP00000108244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022311] [ENSMUST00000112624] [ENSMUST00000112625]
AlphaFold Q9D404
Predicted Effect possibly damaging
Transcript: ENSMUST00000022311
AA Change: M154L

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: M154L

DomainStartEndE-ValueType
Pfam:ketoacyl-synt 41 291 6.7e-61 PFAM
Pfam:Ketoacyl-synt_C 299 414 3.6e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112624
AA Change: M154L

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: M154L

DomainStartEndE-ValueType
Pfam:ketoacyl-synt 41 291 2.8e-60 PFAM
Pfam:Ketoacyl-synt_C 299 414 1.7e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112625
AA Change: M154L

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: M154L

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
Meta Mutation Damage Score 0.3526 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 T C 9: 71,169,049 (GRCm39) I177T probably damaging Het
Aopep T A 13: 63,388,139 (GRCm39) F39L probably damaging Het
Arl4c A G 1: 88,629,350 (GRCm39) S13P possibly damaging Het
Bst1 G T 5: 43,976,306 (GRCm39) probably benign Het
Carmil3 G A 14: 55,741,302 (GRCm39) R1029Q probably benign Het
Cflar A G 1: 58,780,202 (GRCm39) T269A probably benign Het
Clcnka T A 4: 141,121,798 (GRCm39) Y236F probably damaging Het
Clmp T A 9: 40,682,405 (GRCm39) I63N probably damaging Het
Cln6 T C 9: 62,751,908 (GRCm39) L44P probably damaging Het
Col5a3 C T 9: 20,718,915 (GRCm39) A280T unknown Het
Dact2 A G 17: 14,417,567 (GRCm39) L211P probably damaging Het
Dclk2 G T 3: 86,813,272 (GRCm39) Q225K probably damaging Het
Ddx60 T C 8: 62,453,616 (GRCm39) F1245S probably benign Het
Efcab3 A G 11: 104,835,259 (GRCm39) K3540E unknown Het
Eif3i T C 4: 129,487,145 (GRCm39) N240S probably benign Het
Enpp1 T C 10: 24,536,152 (GRCm39) Y416C probably damaging Het
Epb42 T A 2: 120,854,889 (GRCm39) R565S probably benign Het
Eral1 G A 11: 77,966,609 (GRCm39) P217L probably benign Het
Fbxl16 A G 17: 26,035,967 (GRCm39) Y188C probably benign Het
Fgd3 G A 13: 49,427,224 (GRCm39) P503S probably benign Het
Frem3 T C 8: 81,340,062 (GRCm39) L785P probably benign Het
Gadl1 A G 9: 115,835,769 (GRCm39) probably null Het
Gm10787 C T 10: 76,857,676 (GRCm39) noncoding transcript Het
Gm6563 A G 19: 23,653,246 (GRCm39) K12R probably benign Het
Grm5 T C 7: 87,675,758 (GRCm39) L424P probably damaging Het
H2ac11 A G 13: 22,227,006 (GRCm39) V31A probably benign Het
Il17re T C 6: 113,447,069 (GRCm39) S607P possibly damaging Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih1 A G 14: 30,651,780 (GRCm39) M854T possibly damaging Het
Kif1b A G 4: 149,348,086 (GRCm39) L315P probably damaging Het
Ms4a6b T C 19: 11,497,734 (GRCm39) V11A possibly damaging Het
Mxd1 C A 6: 86,627,966 (GRCm39) D191Y probably damaging Het
Nol8 T A 13: 49,807,160 (GRCm39) probably null Het
Ntn4 T A 10: 93,543,128 (GRCm39) probably null Het
Nxph1 A T 6: 9,247,103 (GRCm39) T25S probably benign Het
Or1n1 A G 2: 36,749,853 (GRCm39) V169A probably benign Het
Or2bd2 A C 7: 6,443,354 (GRCm39) T152P possibly damaging Het
Or3a1 A T 11: 74,225,961 (GRCm39) I32K probably benign Het
Or51f1d A G 7: 102,700,526 (GRCm39) N7S probably benign Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c219 A G 10: 129,781,695 (GRCm39) F79L possibly damaging Het
Papolg A C 11: 23,841,815 (GRCm39) I36S probably benign Het
Pde3b T A 7: 114,107,502 (GRCm39) H544Q probably benign Het
Pdzd2 A T 15: 12,592,656 (GRCm39) probably null Het
Prkce C A 17: 86,800,775 (GRCm39) P397Q probably benign Het
Ralgapa2 T C 2: 146,276,765 (GRCm39) S492G possibly damaging Het
Rnf216 A G 5: 143,054,659 (GRCm39) Y630H probably damaging Het
Ruvbl1 C T 6: 88,459,973 (GRCm39) T211I possibly damaging Het
Scyl2 A T 10: 89,481,348 (GRCm39) D666E probably benign Het
Sertad2 A G 11: 20,598,436 (GRCm39) T211A probably benign Het
Sipa1l1 A T 12: 82,487,643 (GRCm39) Q1639L probably benign Het
Snx5 T C 2: 144,101,073 (GRCm39) D98G probably damaging Het
Sorcs2 G T 5: 36,185,332 (GRCm39) probably null Het
Spmip2 T C 3: 79,313,192 (GRCm39) S89P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tmem132d A G 5: 128,346,181 (GRCm39) S114P probably benign Het
Tns2 G A 15: 102,019,846 (GRCm39) G579R probably damaging Het
Usp37 A T 1: 74,517,295 (GRCm39) probably null Het
Vmn1r79 T C 7: 11,910,448 (GRCm39) I110T probably damaging Het
Vps37a C T 8: 40,981,363 (GRCm39) L69F probably damaging Het
Xirp2 T A 2: 67,338,587 (GRCm39) I276N possibly damaging Het
Zfp946 G A 17: 22,673,821 (GRCm39) E192K probably benign 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
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
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'- AAAGGAGTCTCCCACAGCATG -3'
(R):5'- GTGTAGCTGCTTATGTACCAAGAGG -3'

Sequencing Primer
(F):5'- ACAGCATGTGCACCTGTG -3'
(R):5'- GGTCCACATGAAGGTCAGTTTAATG -3'
Posted On 2017-07-14