Incidental Mutation 'R4126:Bbox1'
| ID |
315389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbox1
|
| Ensembl Gene |
ENSMUSG00000041660 |
| Gene Name |
gamma-butyrobetaine hydroxylase 1 |
| Synonyms |
|
| MMRRC Submission |
041634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4126 (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 110100525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 224
(V224A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046233]
|
| AlphaFold |
Q924Y0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046233
AA Change: V224A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: V224A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF971
|
9 |
91 |
6.7e-15 |
PFAM |
|
Pfam:TauD
|
109 |
366 |
6.9e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
89% (33/37) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,984,703 (GRCm39) |
W249R |
probably benign |
Het |
| Ank |
G |
A |
15: 27,590,459 (GRCm39) |
V348I |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,518 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,815 (GRCm39) |
C108R |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,309,413 (GRCm39) |
A1614D |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,525,355 (GRCm39) |
I206V |
probably damaging |
Het |
| Glyat |
G |
T |
19: 12,628,843 (GRCm39) |
V213F |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,079 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,047,426 (GRCm39) |
Y109H |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,084,674 (GRCm39) |
S548N |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,258,766 (GRCm39) |
Y503C |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,568 (GRCm39) |
I276N |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,005,005 (GRCm39) |
K685N |
possibly damaging |
Het |
| Prr14l |
G |
T |
5: 32,985,347 (GRCm39) |
H1383N |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Slc6a20a |
G |
T |
9: 123,489,598 (GRCm39) |
F148L |
probably damaging |
Het |
| Spag11b |
T |
C |
8: 19,191,395 (GRCm39) |
S23P |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Taf11 |
T |
C |
17: 28,120,746 (GRCm39) |
K175E |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,571,048 (GRCm39) |
R175G |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Usp4 |
T |
C |
9: 108,237,316 (GRCm39) |
V128A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,298,860 (GRCm39) |
F479L |
probably damaging |
Het |
| Zmiz1 |
T |
G |
14: 25,657,354 (GRCm39) |
S877A |
possibly 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 |
|
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 |
|
|
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'- GCCAGTTGTTCCAATGACAGTG -3'
(R):5'- GCCCAACTTCAGTAGGCTTG -3'
Sequencing Primer
(F):5'- AATCCACAAAGGTCGAGG -3'
(R):5'- AGTAGGTGCCATCATCTT -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation