Incidental Mutation 'R3741:Bbox1'
| ID |
270359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbox1
|
| Ensembl Gene |
ENSMUSG00000041660 |
| Gene Name |
gamma-butyrobetaine hydroxylase 1 |
| Synonyms |
|
| MMRRC Submission |
040727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3741 (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: 98.6%
- 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,406,357 (GRCm39) |
V1748A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,489 (GRCm39) |
S1082C |
probably damaging |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,606 (GRCm39) |
M1V |
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,687,441 (GRCm39) |
Q107L |
probably benign |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,014 (GRCm39) |
S701P |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,987,424 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,339,295 (GRCm39) |
A3071S |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 33,961,155 (GRCm39) |
|
probably null |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,284,976 (GRCm39) |
Y443C |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,128 (GRCm39) |
I851M |
probably damaging |
Het |
| Lipk |
T |
G |
19: 33,999,107 (GRCm39) |
L134R |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Msrb3 |
A |
T |
10: 120,620,119 (GRCm39) |
F67I |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,550,767 (GRCm39) |
D593G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
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 |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,064 (GRCm39) |
C311R |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,874,167 (GRCm39) |
D377G |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,556 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,704,885 (GRCm39) |
E570G |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,556 (GRCm39) |
R470G |
possibly damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
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 |
| Vmn1r69 |
A |
G |
7: 10,314,069 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
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 |
|
R3740: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'- GGAAGAGCATTTAGACGTAATTACC -3'
(R):5'- GAACTGTAGGCTCACACTGC -3'
Sequencing Primer
(F):5'- CGTAATTACCTTTTTCCGGTCAAATG -3'
(R):5'- CAGAGGCCAGAGTCCACTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation