Incidental Mutation 'IGL01298:Btbd1'
| ID |
73217 |
| 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 # |
IGL01298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81441822-81479179 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 81444055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026092]
[ENSMUST00000026093]
[ENSMUST00000152620]
|
| AlphaFold |
P58544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026092
|
| SMART Domains |
Protein: ENSMUSP00000026092
Gene: ENSMUSG00000025102
| Domain | Start | End | E-Value | Type |
|---|
|
DUF167
|
32 |
108 |
3.17e-28 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026093
|
| SMART Domains |
Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
| 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: ENSMUST00000142557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208375
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
G |
T |
10: 75,169,326 (GRCm39) |
W263C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,652,040 (GRCm39) |
H424Y |
possibly damaging |
Het |
| Angpt2 |
T |
G |
8: 18,760,544 (GRCm39) |
N186T |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,753,369 (GRCm39) |
V304A |
possibly damaging |
Het |
| Atg3 |
T |
C |
16: 44,992,036 (GRCm39) |
M88T |
possibly damaging |
Het |
| Baz1a |
G |
T |
12: 55,001,594 (GRCm39) |
P142Q |
probably damaging |
Het |
| Cacnb3 |
T |
C |
15: 98,537,734 (GRCm39) |
Y70H |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cyp7a1 |
A |
T |
4: 6,275,517 (GRCm39) |
W19R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,738,920 (GRCm39) |
D58Y |
unknown |
Het |
| Gm7168 |
A |
T |
17: 14,170,120 (GRCm39) |
T496S |
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,636,600 (GRCm39) |
S428G |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,757 (GRCm39) |
E309G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,753,023 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Krtap14 |
A |
T |
16: 88,622,615 (GRCm39) |
H121Q |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,388,959 (GRCm39) |
V170A |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,460 (GRCm39) |
M224K |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,898 (GRCm39) |
Y4C |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,990,020 (GRCm39) |
T7I |
possibly damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,037 (GRCm39) |
M96T |
possibly damaging |
Het |
| Pramel5 |
A |
G |
4: 143,997,732 (GRCm39) |
|
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,605 (GRCm39) |
N354S |
probably benign |
Het |
| Prss40 |
T |
G |
1: 34,599,847 (GRCm39) |
I47L |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,484,538 (GRCm39) |
R541G |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,023,508 (GRCm39) |
V788A |
possibly damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,838 (GRCm39) |
Y70H |
probably damaging |
Het |
| Ttk |
C |
T |
9: 83,747,195 (GRCm39) |
S678L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
|
| Other mutations in Btbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Btbd1
|
APN |
7 |
81,450,797 (GRCm39) |
nonsense |
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 |
2013-10-07 |
Incidental Mutation