Incidental Mutation 'IGL02264:Btbd6'
| ID |
286849 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btbd6
|
| Ensembl Gene |
ENSMUSG00000002803 |
| Gene Name |
BTB domain containing 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
IGL02264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112940102-112942565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112940589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 49
(T49A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002880]
[ENSMUST00000011302]
[ENSMUST00000165079]
[ENSMUST00000221104]
[ENSMUST00000221500]
[ENSMUST00000223368]
[ENSMUST00000222209]
[ENSMUST00000223287]
|
| AlphaFold |
Q8K2J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002880
AA Change: T122A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803
AA Change: T122A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
106 |
N/A |
INTRINSIC |
|
BTB
|
137 |
237 |
1.39e-23 |
SMART |
|
BACK
|
243 |
352 |
2.81e-14 |
SMART |
|
Pfam:PHR
|
393 |
538 |
1.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011302
|
| SMART Domains |
Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TF_Zn_Ribbon
|
4 |
46 |
4.3e-17 |
PFAM |
|
CYCLIN
|
91 |
172 |
1.93e-12 |
SMART |
|
CYCLIN
|
185 |
269 |
1.22e-9 |
SMART |
|
coiled coil region
|
298 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
|
Pfam:BRF1
|
452 |
545 |
3.3e-29 |
PFAM |
|
low complexity region
|
638 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165079
AA Change: T71A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803
AA Change: T71A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
BTB
|
86 |
186 |
1.39e-23 |
SMART |
|
BACK
|
192 |
301 |
2.81e-14 |
SMART |
|
Pfam:PHR
|
342 |
488 |
8.7e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220567
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221104
AA Change: T71A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221415
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221500
AA Change: T71A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223506
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223368
AA Change: T49A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223508
AA Change: T8A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222209
AA Change: T71A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223287
AA Change: T71A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222117
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
| Abhd17b |
T |
C |
19: 21,655,796 (GRCm39) |
L26P |
probably damaging |
Het |
| Abtb1 |
A |
G |
6: 88,813,517 (GRCm39) |
V407A |
probably benign |
Het |
| Adamts17 |
C |
A |
7: 66,697,207 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
G |
T |
2: 20,864,850 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,820,656 (GRCm39) |
D1290G |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,259,699 (GRCm39) |
V702I |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
| Dclre1a |
T |
A |
19: 56,532,725 (GRCm39) |
N623I |
possibly damaging |
Het |
| Dnah9 |
A |
T |
11: 65,971,314 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,102,775 (GRCm39) |
F978S |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,685,392 (GRCm39) |
V363I |
possibly damaging |
Het |
| Iglc2 |
G |
T |
16: 19,017,397 (GRCm39) |
S69R |
probably damaging |
Het |
| Ints5 |
T |
C |
19: 8,873,076 (GRCm39) |
V345A |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,687,569 (GRCm39) |
R2825G |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,137,794 (GRCm39) |
E2870G |
probably damaging |
Het |
| Or4c125 |
G |
T |
2: 89,170,028 (GRCm39) |
T206K |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,207 (GRCm39) |
T241A |
probably benign |
Het |
| Or5aq7 |
C |
T |
2: 86,937,785 (GRCm39) |
|
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcsk1 |
C |
A |
13: 75,254,078 (GRCm39) |
T210K |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,961,178 (GRCm39) |
A71V |
possibly damaging |
Het |
| Slco5a1 |
A |
G |
1: 12,942,219 (GRCm39) |
V809A |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,144 (GRCm39) |
T1173A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,040,584 (GRCm39) |
I367T |
probably damaging |
Het |
| Tmem169 |
T |
A |
1: 72,340,114 (GRCm39) |
Y181* |
probably null |
Het |
| Trp73 |
G |
T |
4: 154,148,885 (GRCm39) |
F289L |
probably null |
Het |
| Ttll9 |
A |
G |
2: 152,842,055 (GRCm39) |
Y303C |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,182,939 (GRCm39) |
E3577* |
probably null |
Het |
| Zbtb3 |
T |
G |
19: 8,780,729 (GRCm39) |
V114G |
probably damaging |
Het |
|
| Other mutations in Btbd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03098:Btbd6
|
UTSW |
12 |
112,942,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Btbd6
|
UTSW |
12 |
112,940,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Btbd6
|
UTSW |
12 |
112,941,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Btbd6
|
UTSW |
12 |
112,941,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4241:Btbd6
|
UTSW |
12 |
112,940,416 (GRCm39) |
missense |
probably benign |
|
|
R5363:Btbd6
|
UTSW |
12 |
112,941,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Btbd6
|
UTSW |
12 |
112,940,932 (GRCm39) |
unclassified |
probably benign |
|
|
R7063:Btbd6
|
UTSW |
12 |
112,941,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8901:Btbd6
|
UTSW |
12 |
112,940,220 (GRCm39) |
unclassified |
probably benign |
|
|
R9741:Btbd6
|
UTSW |
12 |
112,940,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation