Incidental Mutation 'R3740:Bbox1'
ID |
270326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbox1
|
Ensembl Gene |
ENSMUSG00000041660 |
Gene Name |
gamma-butyrobetaine hydroxylase 1 |
Synonyms |
|
MMRRC Submission |
040726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3740 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
110094401-110145158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110135922 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q924Y0 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:DUF971
|
7 |
68 |
1.2e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.6613 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
94% (29/31) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,865,535 (GRCm39) |
R103G |
probably benign |
Het |
Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
Fam174b |
T |
C |
7: 73,390,578 (GRCm39) |
|
probably null |
Het |
Fgfr1op2 |
A |
G |
6: 146,496,731 (GRCm39) |
I190V |
possibly damaging |
Het |
Flt1 |
G |
A |
5: 147,536,403 (GRCm39) |
R813W |
probably damaging |
Het |
Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
Hacd3 |
T |
C |
9: 64,928,755 (GRCm39) |
E24G |
possibly damaging |
Het |
Kat6b |
T |
G |
14: 21,720,112 (GRCm39) |
M1488R |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,274 (GRCm39) |
V108A |
possibly damaging |
Het |
Kif5a |
A |
G |
10: 127,079,337 (GRCm39) |
I287T |
probably damaging |
Het |
Mical1 |
A |
C |
10: 41,355,067 (GRCm39) |
D192A |
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,255,223 (GRCm39) |
K255E |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
Serpinb6e |
T |
A |
13: 34,022,943 (GRCm39) |
I147F |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,134,476 (GRCm39) |
M136V |
probably damaging |
Het |
Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
Vmn1r225 |
A |
G |
17: 20,723,261 (GRCm39) |
Q234R |
possibly damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,595,151 (GRCm39) |
N568S |
probably benign |
Het |
Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
Zfp69 |
T |
A |
4: 120,788,071 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Bbox1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAAGAGCATTTAGACGTAATTACC -3'
(R):5'- AACTGTAGGCTCACACTGCTG -3'
Sequencing Primer
(F):5'- CGTAATTACCTTTTTCCGGTCAAATG -3'
(R):5'- CAGAGGCCAGAGTCCACTTG -3'
|
Posted On |
2015-03-18 |