Incidental Mutation 'R2906:Oxct2b'
ID 261648
Institutional Source Beutler Lab
Gene Symbol Oxct2b
Ensembl Gene ENSMUSG00000076438
Gene Name 3-oxoacid CoA transferase 2B
Synonyms Scot-t2
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 123010059-123011793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123010823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 248 (I248V)
Ref Sequence ENSEMBL: ENSMUSP00000099708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000102648]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002457
SMART Domains Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:TGFb_propeptide 26 248 2.7e-62 PFAM
TGFB 298 399 2.83e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102648
AA Change: I248V

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438
AA Change: I248V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CoA_trans 43 272 2.02e-79 SMART
CoA_trans 301 499 5.07e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194481
Meta Mutation Damage Score 0.1571 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Duoxa1 C T 2: 122,135,155 (GRCm39) V197M probably benign Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign Het
Other mutations in Oxct2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00552:Oxct2b APN 4 123,011,301 (GRCm39) missense probably damaging 1.00
R0504:Oxct2b UTSW 4 123,010,705 (GRCm39) small deletion probably benign
R0504:Oxct2b UTSW 4 123,010,633 (GRCm39) missense possibly damaging 0.92
R0543:Oxct2b UTSW 4 123,010,782 (GRCm39) missense possibly damaging 0.93
R1167:Oxct2b UTSW 4 123,011,378 (GRCm39) missense probably damaging 0.99
R1365:Oxct2b UTSW 4 123,011,162 (GRCm39) missense probably benign
R1891:Oxct2b UTSW 4 123,010,938 (GRCm39) missense probably benign 0.01
R2311:Oxct2b UTSW 4 123,011,211 (GRCm39) missense probably damaging 1.00
R4168:Oxct2b UTSW 4 123,011,478 (GRCm39) missense probably damaging 0.96
R4657:Oxct2b UTSW 4 123,010,926 (GRCm39) missense probably damaging 1.00
R6159:Oxct2b UTSW 4 123,011,244 (GRCm39) missense probably damaging 1.00
R6221:Oxct2b UTSW 4 123,010,601 (GRCm39) missense probably damaging 1.00
R6271:Oxct2b UTSW 4 123,011,508 (GRCm39) missense probably damaging 1.00
R6357:Oxct2b UTSW 4 123,010,709 (GRCm39) missense probably benign 0.00
R6389:Oxct2b UTSW 4 123,010,367 (GRCm39) missense probably benign 0.21
R6996:Oxct2b UTSW 4 123,011,480 (GRCm39) missense probably benign 0.05
R7210:Oxct2b UTSW 4 123,010,069 (GRCm39) start gained probably benign
R7655:Oxct2b UTSW 4 123,011,550 (GRCm39) missense probably benign 0.16
R7656:Oxct2b UTSW 4 123,011,550 (GRCm39) missense probably benign 0.16
R7849:Oxct2b UTSW 4 123,010,680 (GRCm39) missense probably damaging 1.00
R7934:Oxct2b UTSW 4 123,010,447 (GRCm39) nonsense probably null
R8094:Oxct2b UTSW 4 123,010,301 (GRCm39) missense possibly damaging 0.66
R8936:Oxct2b UTSW 4 123,010,838 (GRCm39) missense probably benign 0.00
R8979:Oxct2b UTSW 4 123,011,169 (GRCm39) missense probably benign 0.23
R9365:Oxct2b UTSW 4 123,010,589 (GRCm39) missense probably benign 0.03
R9523:Oxct2b UTSW 4 123,011,483 (GRCm39) missense probably damaging 1.00
R9598:Oxct2b UTSW 4 123,010,413 (GRCm39) missense possibly damaging 0.88
R9612:Oxct2b UTSW 4 123,011,019 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGTGAGCCGCGAGAAGTAC -3'
(R):5'- CATACATGCCGTCCTGGAACTC -3'

Sequencing Primer
(F):5'- AAGTACGCGAGTTTCAGGGCC -3'
(R):5'- TGGAACTCCAGAGCCGC -3'
Posted On 2015-01-23