Incidental Mutation 'IGL01476:Btbd1'
| ID |
88454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btbd1
|
| Ensembl Gene |
ENSMUSG00000025103 |
| Gene Name |
BTB domain containing 1 |
| Synonyms |
1190005H08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
IGL01476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81441822-81479179 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 81450797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 328
(R328*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026093]
|
| AlphaFold |
P58544 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026093
AA Change: R328*
|
| SMART Domains |
Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
AA Change: R328*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
45 |
N/A |
INTRINSIC |
|
BTB
|
75 |
181 |
2.73e-22 |
SMART |
|
BACK
|
186 |
294 |
8.02e-10 |
SMART |
|
Pfam:PHR
|
339 |
487 |
2.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208566
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
| Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
| Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
| Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
| Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
| Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
probably damaging |
Het |
|
| Other mutations in Btbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Btbd1
|
APN |
7 |
81,444,055 (GRCm39) |
splice site |
probably null |
|
|
IGL02261:Btbd1
|
APN |
7 |
81,455,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0164:Btbd1
|
UTSW |
7 |
81,450,751 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0164:Btbd1
|
UTSW |
7 |
81,450,751 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0600:Btbd1
|
UTSW |
7 |
81,465,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Btbd1
|
UTSW |
7 |
81,468,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2159:Btbd1
|
UTSW |
7 |
81,450,804 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3961:Btbd1
|
UTSW |
7 |
81,468,083 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Btbd1
|
UTSW |
7 |
81,455,558 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7159:Btbd1
|
UTSW |
7 |
81,467,957 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7331:Btbd1
|
UTSW |
7 |
81,465,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Btbd1
|
UTSW |
7 |
81,443,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Btbd1
|
UTSW |
7 |
81,478,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Btbd1
|
UTSW |
7 |
81,479,081 (GRCm39) |
missense |
unknown |
|
|
R9686:Btbd1
|
UTSW |
7 |
81,455,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation