Incidental Mutation 'R4750:Bbox1'
ID 357468
Institutional Source Beutler Lab
Gene Symbol Bbox1
Ensembl Gene ENSMUSG00000041660
Gene Name gamma-butyrobetaine hydroxylase 1
Synonyms
MMRRC Submission 042031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4750 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 110094401-110145158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110095866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 366 (Y366F)
Ref Sequence ENSEMBL: ENSMUSP00000046302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046233]
AlphaFold Q924Y0
Predicted Effect possibly damaging
Transcript: ENSMUST00000046233
AA Change: Y366F

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: Y366F

DomainStartEndE-ValueType
Pfam:DUF971 9 91 6.7e-15 PFAM
Pfam:TauD 109 366 6.9e-48 PFAM
Meta Mutation Damage Score 0.4567 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 97% (89/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,025,945 (GRCm39) L155Q probably damaging Het
Aadac T C 3: 59,943,238 (GRCm39) F48L probably benign Het
Aadat T A 8: 60,979,634 (GRCm39) N165K probably benign Het
Acan C A 7: 78,742,466 (GRCm39) D557E probably damaging Het
Adamts4 T A 1: 171,078,635 (GRCm39) V85D probably benign Het
Agt A G 8: 125,283,676 (GRCm39) V481A probably benign Het
Angpt1 T C 15: 42,539,797 (GRCm39) N21D probably benign Het
Ankrd52 A C 10: 128,213,958 (GRCm39) D38A probably damaging Het
Ap1g2 G T 14: 55,341,822 (GRCm39) Q247K probably damaging Het
Apaf1 T C 10: 90,896,050 (GRCm39) R341G probably damaging Het
Arf2 T C 11: 103,870,585 (GRCm39) probably null Het
Arhgef1 A G 7: 24,618,001 (GRCm39) probably benign Het
Bbln C T 2: 32,269,425 (GRCm39) probably null Het
Bmp3 A G 5: 99,020,417 (GRCm39) E280G possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh12 T A 15: 21,583,894 (GRCm39) V578D possibly damaging Het
Cdk19 T C 10: 40,352,195 (GRCm39) S282P probably damaging Het
Cfap46 A G 7: 139,259,239 (GRCm39) probably null Het
Cfhr3 T A 1: 139,512,566 (GRCm39) noncoding transcript Het
Ctrc T A 4: 141,568,834 (GRCm39) Y123F probably benign Het
Dync2i2 T C 2: 29,923,932 (GRCm39) T198A probably benign Het
Enpp4 A G 17: 44,413,246 (GRCm39) M96T probably damaging Het
Exosc10 T A 4: 148,646,851 (GRCm39) S154T possibly damaging Het
Fbxo21 G A 5: 118,138,533 (GRCm39) R486H probably benign Het
Foxj3 C A 4: 119,473,787 (GRCm39) A204E probably damaging Het
Gas6 T G 8: 13,526,227 (GRCm39) D237A probably benign Het
Gimap8 A G 6: 48,627,361 (GRCm39) S112G probably benign Het
Gm4787 T C 12: 81,425,141 (GRCm39) N339S possibly damaging Het
Gm6185 T C 1: 161,009,933 (GRCm39) noncoding transcript Het
Gramd2b A G 18: 56,565,372 (GRCm39) E9G probably benign Het
Hmgxb3 A T 18: 61,300,568 (GRCm39) D169E probably benign Het
Isl2 T A 9: 55,451,596 (GRCm39) V162D probably benign Het
Kcns3 T A 12: 11,141,655 (GRCm39) D348V probably damaging Het
Kcp G A 6: 29,484,625 (GRCm39) P1318S probably benign Het
Kif12 T A 4: 63,086,020 (GRCm39) Q415L probably damaging Het
Lama3 T A 18: 12,637,416 (GRCm39) H45Q probably benign Het
Lonp2 A T 8: 87,358,130 (GRCm39) K117M probably benign Het
Loxl4 T A 19: 42,593,443 (GRCm39) N243Y probably damaging Het
Lrif1 C A 3: 106,642,880 (GRCm39) Q662K probably benign Het
Lrrc37a T A 11: 103,346,306 (GRCm39) I3187L probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Mecom T G 3: 30,011,679 (GRCm39) K865Q probably damaging Het
Myh10 T C 11: 68,676,140 (GRCm39) I790T probably damaging Het
Nek7 C T 1: 138,426,411 (GRCm39) S234N probably damaging Het
Nepro T C 16: 44,550,545 (GRCm39) L179P probably damaging Het
Nexn A G 3: 151,943,359 (GRCm39) C649R probably damaging Het
Nsmf T C 2: 24,945,038 (GRCm39) S34P probably damaging Het
Or10x1 A G 1: 174,196,488 (GRCm39) I2V probably benign Het
Or13n4 A G 7: 106,423,514 (GRCm39) F73S probably damaging Het
Or13p5 T A 4: 118,591,930 (GRCm39) V68D possibly damaging Het
Or1n2 T A 2: 36,797,728 (GRCm39) S257T probably benign Het
Or1p1c T A 11: 74,160,246 (GRCm39) F10L probably benign Het
Or2w2 A G 13: 21,757,913 (GRCm39) S238P possibly damaging Het
Or52l1 A T 7: 104,830,133 (GRCm39) I144N probably damaging Het
Or5bw2 A G 7: 6,573,850 (GRCm39) I287V probably benign Het
Or5w16 C T 2: 87,576,852 (GRCm39) T104I probably benign Het
P2rx5 G T 11: 73,055,703 (GRCm39) K53N probably damaging Het
Pcdhb20 C A 18: 37,639,184 (GRCm39) A570E possibly damaging Het
Pip4k2c T C 10: 127,047,286 (GRCm39) H32R unknown Het
Pkhd1 T A 1: 20,594,336 (GRCm39) D1259V possibly damaging Het
Plekha7 A T 7: 115,736,546 (GRCm39) V889E probably damaging Het
Polr2b A C 5: 77,479,886 (GRCm39) E546D possibly damaging Het
Ppm1l A G 3: 69,456,661 (GRCm39) T193A probably damaging Het
Ppp1r37 G T 7: 19,265,445 (GRCm39) D710E probably benign Het
Prdm4 A G 10: 85,735,085 (GRCm39) F679L probably damaging Het
Prkcd A G 14: 30,332,258 (GRCm39) M1T probably null Het
Prss59 A G 6: 40,897,955 (GRCm39) W243R probably damaging Het
Rcor3 A G 1: 191,814,749 (GRCm39) Y77H unknown Het
Rdh5 T C 10: 128,754,235 (GRCm39) E66G possibly damaging Het
Slc12a5 A G 2: 164,824,851 (GRCm39) M396V probably benign Het
Slco5a1 T G 1: 12,949,504 (GRCm39) T629P probably damaging Het
Smarca5 A C 8: 81,460,336 (GRCm39) N133K probably benign Het
Spag5 T C 11: 78,210,878 (GRCm39) M927T probably benign Het
Spint4 A T 2: 164,542,066 (GRCm39) D39V probably damaging Het
Syt6 T A 3: 103,538,233 (GRCm39) *512R probably null Het
Tmem247 T C 17: 87,229,770 (GRCm39) C204R probably damaging Het
Tmem72 A G 6: 116,672,395 (GRCm39) Y149H probably damaging Het
Trpm6 T C 19: 18,853,428 (GRCm39) V1816A probably damaging Het
Usp35 A G 7: 96,959,546 (GRCm39) V1008A possibly damaging Het
Washc4 T C 10: 83,426,916 (GRCm39) S1075P probably damaging Het
Xylb G T 9: 119,188,379 (GRCm39) G62* probably null Het
Zfp142 T C 1: 74,611,617 (GRCm39) E623G probably damaging Het
Zfp239 A G 6: 117,848,700 (GRCm39) Y146C probably damaging 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
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
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'- ATGAGAGAAGCTGCATGTTCAG -3'
(R):5'- GTTGGGCAACAGATTTGAACATG -3'

Sequencing Primer
(F):5'- GAGAAGCTGCATGTTCAGTTTTAAAG -3'
(R):5'- TGCAACCAAAGGCATAATTTCTAC -3'
Posted On 2015-11-11