Incidental Mutation 'R5473:Oxsm'
ID 433946
Institutional Source Beutler Lab
Gene Symbol Oxsm
Ensembl Gene ENSMUSG00000021786
Gene Name 3-oxoacyl-ACP synthase, mitochondrial
Synonyms 4933425A18Rik
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5473 (G1)
Quality Score 203
Status Validated
Chromosome 14
Chromosomal Location 6219955-6231111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16242045 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 241 (S241R)
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: S241R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: S241R

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: S241R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: S241R

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: S241R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: S241R

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Birc5 T C 11: 117,743,533 (GRCm39) V89A possibly damaging Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col24a1 A C 3: 145,243,016 (GRCm39) M1519L probably benign Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Neo1 T C 9: 58,788,126 (GRCm39) N1309S possibly damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Or5d38 A T 2: 87,954,981 (GRCm39) M116K possibly damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Rsrc2 C T 5: 123,869,150 (GRCm39) A98T probably damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H probably 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
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
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'- GCAGTTATGTGACCGGCATC -3'
(R):5'- TTCTGATCAATATGGCTGCAGG -3'

Sequencing Primer
(F):5'- AATTTCTGCGTAGATCCGAGC -3'
(R):5'- TGCAGGCCAGGTTAGCATTC -3'
Posted On 2016-10-06