Incidental Mutation 'R1365:Oxct2b'
ID 155996
Institutional Source Beutler Lab
Gene Symbol Oxct2b
Ensembl Gene ENSMUSG00000076438
Gene Name 3-oxoacid CoA transferase 2B
Synonyms Scot-t2
MMRRC Submission 039430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1365 (G1)
Quality Score 174
Status Not validated
Chromosome 4
Chromosomal Location 123010059-123011793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123011162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 361 (V361I)
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: V361I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438
AA Change: V361I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 G A 13: 98,211,632 (GRCm39) T117M probably damaging Het
Asb15 T C 6: 24,567,269 (GRCm39) I530T possibly damaging Het
Brca1 T C 11: 101,392,822 (GRCm39) N1673S probably benign Het
Cd48 A T 1: 171,527,129 (GRCm39) Q185L probably damaging Het
Cog2 A T 8: 125,267,713 (GRCm39) K343I probably damaging Het
Dars2 G A 1: 160,872,564 (GRCm39) Q546* probably null Het
Dst A G 1: 34,227,275 (GRCm39) K1623E probably benign Het
Epn1 G A 7: 5,096,369 (GRCm39) R221Q probably benign Het
Gtf2b T C 3: 142,477,227 (GRCm39) I33T probably damaging Het
Hsf4 G T 8: 105,997,726 (GRCm39) R156L probably damaging Het
Itch A G 2: 155,054,951 (GRCm39) N752D probably benign Het
Kif28 G A 1: 179,567,552 (GRCm39) Q73* probably null Het
Mamdc4 T C 2: 25,456,036 (GRCm39) Y790C probably damaging Het
Med1 T C 11: 98,046,821 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nf1 A G 11: 79,438,711 (GRCm39) probably null Het
Pid1 T C 1: 84,015,862 (GRCm39) M168V probably damaging Het
Plk1 A G 7: 121,767,852 (GRCm39) D419G probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Sem1 T C 6: 6,560,501 (GRCm39) D26G possibly damaging Het
Sin3a C T 9: 57,032,487 (GRCm39) R1141* probably null Het
Slf1 C T 13: 77,274,490 (GRCm39) A68T probably damaging Het
Trmo A G 4: 46,380,278 (GRCm39) S364P probably damaging Het
Uchl3 A G 14: 101,891,528 (GRCm39) E10G probably damaging Het
Usp14 C T 18: 10,000,490 (GRCm39) probably null Het
Vmn1r203 T A 13: 22,708,756 (GRCm39) M179K probably benign Het
Vps13a A G 19: 16,596,810 (GRCm39) Y3103H probably damaging Het
Zfp804a T C 2: 82,087,590 (GRCm39) L473P probably benign Het
Zfp979 A T 4: 147,697,681 (GRCm39) Y343N 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
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
R2906:Oxct2b UTSW 4 123,010,823 (GRCm39) missense probably benign 0.12
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'- GGAGCAAAGACAATGACCCTTCCAG -3'
(R):5'- TCAGTGATGATGAGGTCCACGCAG -3'

Sequencing Primer
(F):5'- TTCCAGGACGCGCATCATC -3'
(R):5'- CAACGGCATGGTGCATTTC -3'
Posted On 2014-02-11