Incidental Mutation 'R7617:Btbd2'
| ID |
588965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd2
|
| Ensembl Gene |
ENSMUSG00000003344 |
| Gene Name |
BTB domain containing 2 |
| Synonyms |
4930512K17Rik, 2610037C03Rik |
| MMRRC Submission |
045684-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R7617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80478457-80492328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80482226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 258
(D258G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003434]
[ENSMUST00000126980]
|
| AlphaFold |
E9PUS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003434
AA Change: D258G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: D258G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
68 |
N/A |
INTRINSIC |
|
BTB
|
115 |
215 |
9.96e-25 |
SMART |
|
BACK
|
220 |
328 |
6.36e-13 |
SMART |
|
Pfam:PHR
|
373 |
522 |
7.1e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126980
AA Change: D243G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: D243G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
53 |
N/A |
INTRINSIC |
|
BTB
|
100 |
200 |
9.96e-25 |
SMART |
|
BACK
|
205 |
313 |
6.36e-13 |
SMART |
|
Pfam:PHR
|
358 |
508 |
4.3e-54 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: D127G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
2 |
85 |
4.38e-12 |
SMART |
|
BACK
|
90 |
199 |
1.21e-13 |
SMART |
|
PDB:3NO8|B
|
234 |
256 |
1e-8 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (41/42) |
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,102,694 (GRCm39) |
Y864* |
probably null |
Het |
| Abhd2 |
T |
C |
7: 78,998,032 (GRCm39) |
M188T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,206,054 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
G |
T |
11: 5,637,348 (GRCm39) |
V1306L |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,538,831 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
C |
T |
10: 75,568,277 (GRCm39) |
R75K |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,348 (GRCm39) |
N507S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,970 (GRCm39) |
E311G |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,387 (GRCm39) |
M371T |
unknown |
Het |
| Dnah1 |
A |
T |
14: 31,006,739 (GRCm39) |
V2192E |
possibly damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,278 (GRCm39) |
I199N |
probably damaging |
Het |
| Grip2 |
A |
C |
6: 91,742,031 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
G |
T |
6: 100,760,146 (GRCm39) |
W227L |
probably damaging |
Het |
| Ighv6-5 |
G |
T |
12: 114,380,626 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
T |
A |
4: 101,031,408 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,328,345 (GRCm39) |
D393G |
possibly damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,080 (GRCm39) |
V320E |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,336,426 (GRCm39) |
C76S |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,106,701 (GRCm39) |
D1261G |
possibly damaging |
Het |
| Myo18b |
A |
C |
5: 112,905,319 (GRCm39) |
|
probably null |
Het |
| Or4c124 |
T |
A |
2: 89,155,723 (GRCm39) |
D267V |
probably damaging |
Het |
| Oxct2a |
A |
C |
4: 123,217,150 (GRCm39) |
L77R |
probably damaging |
Het |
| P2rx2 |
A |
T |
5: 110,489,950 (GRCm39) |
C172S |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,832,969 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,544,107 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
T |
A |
3: 104,691,059 (GRCm39) |
Y274* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,370,893 (GRCm39) |
D562E |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,203,156 (GRCm39) |
V557A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,221 (GRCm39) |
I500T |
probably damaging |
Het |
| Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
| Tcp10c |
T |
G |
17: 13,576,100 (GRCm39) |
L27V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,651 (GRCm39) |
D403G |
probably benign |
Het |
| Tmprss13 |
G |
A |
9: 45,244,858 (GRCm39) |
W212* |
probably null |
Het |
| Tspoap1 |
T |
G |
11: 87,654,451 (GRCm39) |
S244A |
probably benign |
Het |
| Upb1 |
A |
C |
10: 75,260,368 (GRCm39) |
T136P |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,662,188 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp354a |
A |
G |
11: 50,960,751 (GRCm39) |
T320A |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,641,070 (GRCm39) |
Y1225H |
probably damaging |
Het |
|
| Other mutations in Btbd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
brachio
|
UTSW |
10 |
80,481,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Btbd2
|
UTSW |
10 |
80,483,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Btbd2
|
UTSW |
10 |
80,479,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Btbd2
|
UTSW |
10 |
80,480,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4827:Btbd2
|
UTSW |
10 |
80,482,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Btbd2
|
UTSW |
10 |
80,482,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5372:Btbd2
|
UTSW |
10 |
80,484,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6108:Btbd2
|
UTSW |
10 |
80,481,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Btbd2
|
UTSW |
10 |
80,480,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6355:Btbd2
|
UTSW |
10 |
80,481,183 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6872:Btbd2
|
UTSW |
10 |
80,480,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7016:Btbd2
|
UTSW |
10 |
80,484,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Btbd2
|
UTSW |
10 |
80,480,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Btbd2
|
UTSW |
10 |
80,482,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7756:Btbd2
|
UTSW |
10 |
80,484,440 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7762:Btbd2
|
UTSW |
10 |
80,479,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Btbd2
|
UTSW |
10 |
80,480,515 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9321:Btbd2
|
UTSW |
10 |
80,483,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9484:Btbd2
|
UTSW |
10 |
80,480,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9655:Btbd2
|
UTSW |
10 |
80,492,045 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9784:Btbd2
|
UTSW |
10 |
80,484,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCAAGTCCACTGTGTCTG -3'
(R):5'- TCTGCAGTGGTCTCCTGATG -3'
Sequencing Primer
(F):5'- AAGTCCACTGTGTCTGTGCCAC -3'
(R):5'- CCTTGTGCTAGGGTGTCAGATACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation