Incidental Mutation 'R7300:Btbd2'
| ID |
566933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd2
|
| Ensembl Gene |
ENSMUSG00000003344 |
| Gene Name |
BTB domain containing 2 |
| Synonyms |
4930512K17Rik, 2610037C03Rik |
| MMRRC Submission |
045404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R7300 (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 T
at 80480100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 420
(I420N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003434]
[ENSMUST00000079773]
[ENSMUST00000085435]
[ENSMUST00000126980]
|
| AlphaFold |
E9PUS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003434
AA Change: I420N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: I420N
| 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: I405N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: I405N
| 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 |
probably benign
Transcript: ENSMUST00000131876
|
| SMART Domains |
Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
| 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 |
probably benign
Transcript: ENSMUST00000220163
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
94% (45/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
| Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
| Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
| Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
| Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
| Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
| Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
| Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
| Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
| Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
| Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
| Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
| Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
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 |
|
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 |
|
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'- TCTCAAGATGGGTATGGCGG -3'
(R):5'- AGGCTTTGGTCCAGAATGG -3'
Sequencing Primer
(F):5'- TGCCTTCGTATGGTATGC -3'
(R):5'- AATGGGCAATGTGACGTCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation