Incidental Mutation 'R3740:Bbox1'
ID 270326
Institutional Source Beutler Lab
Gene Symbol Bbox1
Ensembl Gene ENSMUSG00000041660
Gene Name gamma-butyrobetaine hydroxylase 1
Synonyms
MMRRC Submission 040726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R3740 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 110094401-110145158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110135922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 19 (I19T)
Ref Sequence ENSEMBL: ENSMUSP00000116663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046233] [ENSMUST00000133608]
AlphaFold Q924Y0
Predicted Effect probably benign
Transcript: ENSMUST00000046233
AA Change: I19T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: I19T

DomainStartEndE-ValueType
Pfam:DUF971 9 91 6.7e-15 PFAM
Pfam:TauD 109 366 6.9e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133608
AA Change: I19T

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116663
Gene: ENSMUSG00000041660
AA Change: I19T

DomainStartEndE-ValueType
Pfam:DUF971 7 68 1.2e-8 PFAM
Meta Mutation Damage Score 0.6613 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 94% (29/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,865,535 (GRCm39) R103G probably benign Het
Atp8b2 C G 3: 89,853,338 (GRCm39) A726P probably benign Het
Ctso G A 3: 81,859,556 (GRCm39) V288I probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fam135a A T 1: 24,053,892 (GRCm39) M1215K probably damaging Het
Fam174b T C 7: 73,390,578 (GRCm39) probably null Het
Fgfr1op2 A G 6: 146,496,731 (GRCm39) I190V possibly damaging Het
Flt1 G A 5: 147,536,403 (GRCm39) R813W probably damaging Het
Gm6489 T A 1: 31,326,764 (GRCm39) noncoding transcript Het
Hacd3 T C 9: 64,928,755 (GRCm39) E24G possibly damaging Het
Kat6b T G 14: 21,720,112 (GRCm39) M1488R probably damaging Het
Kcnk3 T C 5: 30,779,274 (GRCm39) V108A possibly damaging Het
Kif5a A G 10: 127,079,337 (GRCm39) I287T probably damaging Het
Mical1 A C 10: 41,355,067 (GRCm39) D192A probably benign Het
Mov10l1 A G 15: 88,896,345 (GRCm39) N678D possibly damaging Het
Nup210l A T 3: 90,114,701 (GRCm39) M1759L probably benign Het
Optn C A 2: 5,039,009 (GRCm39) M371I possibly damaging Het
Pik3cg T C 12: 32,255,223 (GRCm39) K255E probably damaging Het
Rims1 A T 1: 22,443,667 (GRCm39) V380D probably damaging Het
Serpinb6e T A 13: 34,022,943 (GRCm39) I147F probably benign Het
Slc13a1 T C 6: 24,134,476 (GRCm39) M136V probably damaging Het
Syngr4 T C 7: 45,545,194 (GRCm39) E5G possibly damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tmem88b A G 4: 155,869,884 (GRCm39) L59P probably damaging Het
Ttn T A 2: 76,620,703 (GRCm39) K13995* probably null Het
Vmn1r225 A G 17: 20,723,261 (GRCm39) Q234R possibly damaging Het
Vmn2r107 A G 17: 20,595,151 (GRCm39) N568S probably benign Het
Zfp605 G T 5: 110,276,564 (GRCm39) G561W probably damaging Het
Zfp69 T A 4: 120,788,071 (GRCm39) probably null Het
Other mutations in Bbox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Bbox1 APN 2 110,095,831 (GRCm39) missense probably benign 0.06
IGL02273:Bbox1 APN 2 110,105,961 (GRCm39) nonsense probably null
IGL02648:Bbox1 APN 2 110,135,871 (GRCm39) missense probably damaging 1.00
E0374:Bbox1 UTSW 2 110,098,656 (GRCm39) missense probably damaging 1.00
PIT4434001:Bbox1 UTSW 2 110,105,979 (GRCm39) missense probably benign 0.01
R0047:Bbox1 UTSW 2 110,098,647 (GRCm39) missense probably damaging 1.00
R0047:Bbox1 UTSW 2 110,098,647 (GRCm39) missense probably damaging 1.00
R1173:Bbox1 UTSW 2 110,095,956 (GRCm39) missense probably damaging 0.99
R1682:Bbox1 UTSW 2 110,122,893 (GRCm39) missense possibly damaging 0.46
R2510:Bbox1 UTSW 2 110,135,976 (GRCm39) start codon destroyed probably null 1.00
R3741:Bbox1 UTSW 2 110,135,922 (GRCm39) missense possibly damaging 0.79
R4125:Bbox1 UTSW 2 110,100,525 (GRCm39) missense probably benign
R4126:Bbox1 UTSW 2 110,100,525 (GRCm39) missense probably benign
R4128:Bbox1 UTSW 2 110,100,525 (GRCm39) missense probably benign
R4750:Bbox1 UTSW 2 110,095,866 (GRCm39) missense possibly damaging 0.93
R4841:Bbox1 UTSW 2 110,134,084 (GRCm39) splice site probably null
R5621:Bbox1 UTSW 2 110,122,868 (GRCm39) nonsense probably null
R6210:Bbox1 UTSW 2 110,100,422 (GRCm39) missense probably benign 0.38
R6649:Bbox1 UTSW 2 110,135,914 (GRCm39) missense probably benign
R6677:Bbox1 UTSW 2 110,135,770 (GRCm39) missense probably damaging 1.00
R7078:Bbox1 UTSW 2 110,122,884 (GRCm39) missense probably benign
R7473:Bbox1 UTSW 2 110,095,843 (GRCm39) missense probably damaging 1.00
R7590:Bbox1 UTSW 2 110,098,577 (GRCm39) missense probably benign
R7672:Bbox1 UTSW 2 110,135,794 (GRCm39) missense probably damaging 0.96
R7881:Bbox1 UTSW 2 110,122,871 (GRCm39) missense probably benign 0.00
R8938:Bbox1 UTSW 2 110,100,529 (GRCm39) missense probably benign 0.06
R9711:Bbox1 UTSW 2 110,098,581 (GRCm39) missense probably damaging 1.00
R9801:Bbox1 UTSW 2 110,100,418 (GRCm39) missense probably benign 0.04
Z1177:Bbox1 UTSW 2 110,100,533 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GGGAAGAGCATTTAGACGTAATTACC -3'
(R):5'- AACTGTAGGCTCACACTGCTG -3'

Sequencing Primer
(F):5'- CGTAATTACCTTTTTCCGGTCAAATG -3'
(R):5'- CAGAGGCCAGAGTCCACTTG -3'
Posted On 2015-03-18