Incidental Mutation 'IGL02648:Bbox1'
ID302010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbox1
Ensembl Gene ENSMUSG00000041660
Gene Namebutyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02648
Quality Score
Status
Chromosome2
Chromosomal Location110262697-110314560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 110305526 bp
ZygosityHeterozygous
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]
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: 144,617,822 probably null Het
Acp4 A G 7: 44,254,990 probably benign Het
Adgrv1 A T 13: 81,511,619 M1997K probably benign Het
Arhgdib T C 6: 136,933,649 D38G probably damaging Het
Cacna1c T C 6: 118,757,496 K104R probably damaging Het
Cacna1i G A 15: 80,298,638 C75Y probably damaging Het
Ccdc14 T C 16: 34,697,158 L70S probably damaging Het
Ccdc88a T G 11: 29,501,051 V1580G probably benign Het
Cdadc1 C A 14: 59,586,363 D227Y probably damaging Het
Chd3 T C 11: 69,352,150 Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 N493S probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Gm10549 C A 18: 33,464,250 probably benign Het
Gm17677 A T 9: 35,741,109 M21L probably benign Het
Greb1 C T 12: 16,708,682 V678M probably damaging Het
Gucy2c G A 6: 136,729,213 R497* probably null Het
Itgad T C 7: 128,183,374 probably benign Het
Lgr4 C A 2: 110,012,373 T877K probably damaging Het
Lrig3 A G 10: 125,966,594 D40G probably benign Het
Myo3b T C 2: 70,105,372 probably benign Het
Neb A G 2: 52,271,081 Y2193H possibly damaging Het
Olfr1270 T A 2: 90,149,353 I218F possibly damaging Het
Olfr918 T C 9: 38,673,016 M143V probably benign Het
Pard6b A G 2: 168,098,927 Q278R probably benign Het
Pkd2l1 T C 19: 44,155,536 Y366C possibly damaging Het
Prl2c1 A G 13: 27,857,559 D188G probably benign Het
Prl3a1 G T 13: 27,270,235 M65I probably benign Het
Psg26 T A 7: 18,482,766 E49D probably benign Het
Rapgef3 G A 15: 97,758,392 R38W probably damaging Het
Rrn3 T C 16: 13,811,589 F590L probably benign Het
Serpina12 T C 12: 104,038,008 K122E probably benign Het
Slc39a6 T C 18: 24,582,367 I699V probably damaging Het
Tmem259 G A 10: 79,977,817 P443S probably damaging Het
Vmn1r75 T A 7: 11,881,164 F274L probably benign Het
Other mutations in Bbox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Bbox1 APN 2 110265486 missense probably benign 0.06
IGL02273:Bbox1 APN 2 110275616 nonsense probably null
E0374:Bbox1 UTSW 2 110268311 missense probably damaging 1.00
PIT4434001:Bbox1 UTSW 2 110275634 missense probably benign 0.01
R0047:Bbox1 UTSW 2 110268302 missense probably damaging 1.00
R0047:Bbox1 UTSW 2 110268302 missense probably damaging 1.00
R1173:Bbox1 UTSW 2 110265611 missense probably damaging 0.99
R1682:Bbox1 UTSW 2 110292548 missense possibly damaging 0.46
R2510:Bbox1 UTSW 2 110305631 start codon destroyed probably null 1.00
R3740:Bbox1 UTSW 2 110305577 missense possibly damaging 0.79
R3741:Bbox1 UTSW 2 110305577 missense possibly damaging 0.79
R4125:Bbox1 UTSW 2 110270180 missense probably benign
R4126:Bbox1 UTSW 2 110270180 missense probably benign
R4128:Bbox1 UTSW 2 110270180 missense probably benign
R4750:Bbox1 UTSW 2 110265521 missense possibly damaging 0.93
R4841:Bbox1 UTSW 2 110303739 splice site probably null
R5621:Bbox1 UTSW 2 110292523 nonsense probably null
R6210:Bbox1 UTSW 2 110270077 missense probably benign 0.38
R6649:Bbox1 UTSW 2 110305569 missense probably benign
R6677:Bbox1 UTSW 2 110305425 missense probably damaging 1.00
R7078:Bbox1 UTSW 2 110292539 missense probably benign
R7473:Bbox1 UTSW 2 110265498 missense probably damaging 1.00
R7590:Bbox1 UTSW 2 110268232 missense probably benign
R7672:Bbox1 UTSW 2 110305449 missense probably damaging 0.96
R7881:Bbox1 UTSW 2 110292526 missense probably benign 0.00
Z1177:Bbox1 UTSW 2 110270188 missense probably benign 0.22
Posted On2015-04-16