Incidental Mutation 'R6316:Btbd2'
| ID |
509992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd2
|
| Ensembl Gene |
ENSMUSG00000003344 |
| Gene Name |
BTB domain containing 2 |
| Synonyms |
4930512K17Rik, 2610037C03Rik |
| MMRRC Submission |
044416-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R6316 (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 A
at 80480612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 319
(I319F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003434]
[ENSMUST00000079773]
[ENSMUST00000085435]
[ENSMUST00000126980]
|
| AlphaFold |
E9PUS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003434
AA Change: I334F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: I334F
| 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 |
probably benign
Transcript: ENSMUST00000085435
|
| SMART Domains |
Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
46 |
308 |
1.3e-14 |
PFAM |
|
Pfam:Pkinase
|
46 |
313 |
7.6e-35 |
PFAM |
|
Pfam:CK1gamma_C
|
354 |
385 |
1.2e-11 |
PFAM |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126980
AA Change: I319F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: I319F
| 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: I209F
|
| SMART Domains |
Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: I209F
| 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: ENSMUST00000220025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217902
|
| Meta Mutation Damage Score |
0.3121 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
| Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
| Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
| Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
| Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
| Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
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 |
|
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 |
|
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'- TGCCAAGCTCTCACCTGATG -3'
(R):5'- GTGTTCTACGGCAGAGGTCTAG -3'
Sequencing Primer
(F):5'- AAGCTCTCACCTGATGCGGTC -3'
(R):5'- TCACACATGTGGGAGTCTACCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation