Incidental Mutation 'R6355:Btbd2'
| ID |
512343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd2
|
| Ensembl Gene |
ENSMUSG00000003344 |
| Gene Name |
BTB domain containing 2 |
| Synonyms |
4930512K17Rik, 2610037C03Rik |
| MMRRC Submission |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80478457-80492328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80481183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 325
(F325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003434]
[ENSMUST00000079773]
[ENSMUST00000126980]
|
| AlphaFold |
E9PUS2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003434
AA Change: F325L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: F325L
| 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 benign
Transcript: ENSMUST00000079773
|
| SMART Domains |
Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
126 |
329 |
2e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
128 |
329 |
6.2e-10 |
PFAM |
|
Pfam:CK1gamma_C
|
382 |
412 |
4e-11 |
PFAM |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126980
AA Change: F310L
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: F310L
| 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 |
unknown
Transcript: ENSMUST00000131876
AA Change: F194L
|
| SMART Domains |
Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: F194L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217902
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
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 |
|
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 |
|
R7617:Btbd2
|
UTSW |
10 |
80,482,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATCCTGAGTGGCTGATAAGAC -3'
(R):5'- TGTCTGCACATGGCCCTTAC -3'
Sequencing Primer
(F):5'- TGATAAGACACGGCCTGC -3'
(R):5'- TTACAAGCCCGGGGTTCACAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation