Incidental Mutation 'R3741:Bbox1'
ID270359
Institutional Source Beutler Lab
Gene Symbol Bbox1
Ensembl Gene ENSMUSG00000041660
Gene Namebutyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase)
Synonyms
MMRRC Submission 040727-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R3741 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location110262697-110314560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110305577 bp
ZygosityHeterozygous
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]
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: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,478,619 V1748A possibly damaging Het
Atp10b A T 11: 43,235,662 S1082C probably damaging Het
Atp8b2 C G 3: 89,946,031 A726P probably benign Het
B4galt3 C A 1: 171,274,043 H196N probably damaging Het
Bbip1 T C 19: 53,932,175 M1V probably null Het
Bclaf3 T A X: 159,551,832 H41Q probably benign Het
Ctsm T A 13: 61,539,627 Q107L probably benign Het
Ctso G A 3: 81,952,249 V288I probably benign Het
Cyp2a4 A C 7: 26,308,544 K125N probably damaging Het
Dapk1 T C 13: 60,748,200 S701P probably benign Het
Dnah1 A G 14: 31,265,467 probably benign Het
Dnah11 A G 12: 118,131,341 M718T probably benign Het
Dnah2 C A 11: 69,448,469 A3071S probably damaging Het
Epb41l4a A T 18: 33,828,102 probably null Het
Fam135a A T 1: 24,014,811 M1215K probably damaging Het
Gm6489 T A 1: 31,287,683 noncoding transcript Het
Hhipl1 A G 12: 108,318,717 Y443C probably damaging Het
Hoxc13 G A 15: 102,921,438 G84D possibly damaging Het
Ifi207 T C 1: 173,727,562 I851M probably damaging Het
Lipk T G 19: 34,021,707 L134R probably damaging Het
Mov10l1 A G 15: 89,012,142 N678D possibly damaging Het
Msrb3 A T 10: 120,784,214 F67I probably damaging Het
Myo1a A G 10: 127,714,898 D593G probably benign Het
Nsf C T 11: 103,930,752 E26K possibly damaging Het
Nup210l A T 3: 90,207,394 M1759L probably benign Het
Optn C A 2: 5,034,198 M371I possibly damaging Het
Rims1 A T 1: 22,373,443 V380D probably damaging Het
Rnf148 A G 6: 23,654,065 C311R possibly damaging Het
Rrp12 T C 19: 41,885,728 D377G probably damaging Het
Sbp T A 17: 23,945,582 probably benign Het
Sipa1 T C 19: 5,654,857 E570G probably damaging Het
Spem2 T C 11: 69,816,730 R470G possibly damaging Het
Syngr4 T C 7: 45,895,770 E5G possibly damaging Het
Tmem88b A G 4: 155,785,427 L59P probably damaging Het
Ttn T A 2: 76,790,359 K13995* probably null Het
Vmn1r69 A G 7: 10,580,142 Y221H possibly damaging Het
Zfp386 T A 12: 116,059,550 L296* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGAGCATTTAGACGTAATTACC -3'
(R):5'- GAACTGTAGGCTCACACTGC -3'

Sequencing Primer
(F):5'- CGTAATTACCTTTTTCCGGTCAAATG -3'
(R):5'- CAGAGGCCAGAGTCCACTTG -3'
Posted On2015-03-18