Incidental Mutation 'IGL01686:Bbox1'
ID103955
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: 0.065) question?
Stock #IGL01686
Quality Score
Status
Chromosome2
Chromosomal Location110262697-110314560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110265486 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 378 (I378F)
Ref Sequence ENSEMBL: ENSMUSP00000046302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046233]
Predicted Effect probably benign
Transcript: ENSMUST00000046233
AA Change: I378F

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: I378F

DomainStartEndE-ValueType
Pfam:DUF971 9 91 6.7e-15 PFAM
Pfam:TauD 109 366 6.9e-48 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
Abcc9 A G 6: 142,603,075 V1316A possibly damaging Het
Ada T G 2: 163,730,316 K254N probably benign Het
Adamts17 A G 7: 66,840,289 R40G probably benign Het
Akr1d1 C T 6: 37,530,243 probably benign Het
Aldh1l1 T A 6: 90,559,233 probably benign Het
BC028528 T C 3: 95,888,900 N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 S783T possibly damaging Het
Cmpk2 C T 12: 26,477,178 R389W probably damaging Het
Cplx1 C T 5: 108,548,527 probably null Het
Crim1 T C 17: 78,344,434 L529P probably benign Het
Ctps A G 4: 120,553,986 S278P probably benign Het
Defb21 C A 2: 152,574,901 probably benign Het
Ecm1 T A 3: 95,736,064 N308I probably benign Het
Flg2 T C 3: 93,202,284 S540P unknown Het
Gabrp G T 11: 33,552,826 S346* probably null Het
Gli2 C A 1: 118,848,435 C419F probably damaging Het
Grid2 T A 6: 64,320,196 F514L probably benign Het
Hormad1 T G 3: 95,578,269 M256R probably benign Het
Itsn2 T G 12: 4,636,693 probably benign Het
Klhl38 A T 15: 58,323,311 D7E probably benign Het
Map3k1 G A 13: 111,754,662 T1248I possibly damaging Het
Mki67 A T 7: 135,707,813 V303E probably benign Het
Mterf4 A T 1: 93,304,721 L136* probably null Het
Mtmr14 A G 6: 113,240,430 D61G possibly damaging Het
Nf2 A T 11: 4,818,613 D85E probably benign Het
Nmnat2 G T 1: 153,076,997 probably benign Het
Olfm3 T A 3: 115,122,848 D476E probably benign Het
Olfr297 T C 7: 86,526,778 V7A probably benign Het
Olfr920 T A 9: 38,756,254 C189S probably damaging Het
Pdia6 T C 12: 17,283,957 probably benign Het
Prrg1 G A X: 78,483,782 A47V probably damaging Het
Rgs22 A T 15: 36,103,835 I160K probably benign Het
Sardh T C 2: 27,189,613 Y889C probably damaging Het
Syne2 C A 12: 75,909,336 D605E probably benign Het
Other mutations in Bbox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02273:Bbox1 APN 2 110275616 nonsense probably null
IGL02648:Bbox1 APN 2 110305526 missense probably damaging 1.00
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
Posted On2014-01-21