Incidental Mutation 'IGL02273:Bbox1'
| ID |
287262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bbox1
|
| Ensembl Gene |
ENSMUSG00000041660 |
| Gene Name |
gamma-butyrobetaine hydroxylase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
110094401-110145158 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 110105961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 194
(Y194*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046233]
|
| AlphaFold |
Q924Y0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046233
AA Change: Y194*
|
| SMART Domains |
Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: Y194*
| Domain | Start | End | E-Value | Type |
|---|
|
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation