Incidental Mutation 'IGL02648:Bbox1'
ID 302010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbox1
Ensembl Gene ENSMUSG00000041660
Gene Name gamma-butyrobetaine hydroxylase 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02648
Quality Score
Status
Chromosome 2
Chromosomal Location 110094401-110145158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 110135871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 36 (D36A)
Ref Sequence ENSEMBL: ENSMUSP00000116663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046233] [ENSMUST00000133608]
AlphaFold Q924Y0
Predicted Effect probably damaging
Transcript: ENSMUST00000046233
AA Change: D36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: D36A

DomainStartEndE-ValueType
Pfam:DUF971 9 91 6.7e-15 PFAM
Pfam:TauD 109 366 6.9e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133608
AA Change: D36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116663
Gene: ENSMUSG00000041660
AA Change: D36A

DomainStartEndE-ValueType
Pfam:DUF971 7 68 1.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign 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
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
R3740:Bbox1 UTSW 2 110,135,922 (GRCm39) missense possibly damaging 0.79
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
Posted On 2015-04-16