Incidental Mutation 'IGL02133:Kbtbd8'
| ID |
281090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kbtbd8
|
| Ensembl Gene |
ENSMUSG00000030031 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 8 |
| Synonyms |
SSEC-51, SSEC51, Takrp, SSEC 51 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
IGL02133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
95094861-95106774 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 95098713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032107]
[ENSMUST00000119582]
[ENSMUST00000122938]
|
| AlphaFold |
Q3UQV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032107
|
| SMART Domains |
Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
49 |
147 |
7.37e-28 |
SMART |
|
BACK
|
152 |
254 |
1.37e-26 |
SMART |
|
Kelch
|
334 |
388 |
2.63e-3 |
SMART |
|
Kelch
|
389 |
439 |
6.13e-4 |
SMART |
|
Kelch
|
480 |
530 |
5.06e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119582
|
| SMART Domains |
Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
5.1e-14 |
PFAM |
|
BACK
|
75 |
177 |
1.37e-26 |
SMART |
|
Kelch
|
257 |
311 |
2.63e-3 |
SMART |
|
Kelch
|
312 |
362 |
6.13e-4 |
SMART |
|
Blast:Kelch
|
364 |
402 |
4e-18 |
BLAST |
|
Kelch
|
403 |
453 |
5.06e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122938
|
| SMART Domains |
Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
65 |
142 |
1.4e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145387
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
G |
T |
11: 52,294,337 (GRCm39) |
A193S |
probably damaging |
Het |
| Adam4 |
A |
G |
12: 81,466,803 (GRCm39) |
V606A |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,481,074 (GRCm39) |
I821V |
probably benign |
Het |
| Bmi1 |
A |
T |
2: 18,688,488 (GRCm39) |
R160W |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,470,424 (GRCm39) |
Q165L |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,906,349 (GRCm39) |
R1062C |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,899,487 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,648,937 (GRCm39) |
T940I |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,721,338 (GRCm39) |
M1535R |
possibly damaging |
Het |
| Dhx38 |
C |
A |
8: 110,284,873 (GRCm39) |
E487* |
probably null |
Het |
| Fam186b |
A |
G |
15: 99,171,584 (GRCm39) |
S888P |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,153,249 (GRCm39) |
G1235D |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,792,946 (GRCm39) |
W262* |
probably null |
Het |
| Gtdc1 |
A |
T |
2: 44,465,455 (GRCm39) |
M305K |
probably damaging |
Het |
| H2-M9 |
T |
C |
17: 36,952,629 (GRCm39) |
E139G |
possibly damaging |
Het |
| Haus1 |
A |
T |
18: 77,854,611 (GRCm39) |
L53Q |
probably damaging |
Het |
| Hgfac |
A |
G |
5: 35,203,931 (GRCm39) |
Y483C |
probably damaging |
Het |
| Hipk2 |
C |
T |
6: 38,796,069 (GRCm39) |
V67I |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,500,683 (GRCm39) |
T683A |
probably benign |
Het |
| Ldhb |
A |
T |
6: 142,438,226 (GRCm39) |
M277K |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,620,010 (GRCm39) |
L33P |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,832,618 (GRCm39) |
F571L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,102,816 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
A |
G |
17: 90,950,671 (GRCm39) |
S503P |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,243,790 (GRCm39) |
V308A |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,342,922 (GRCm39) |
F292L |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,099,662 (GRCm39) |
F88S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,604,330 (GRCm39) |
E683V |
probably benign |
Het |
| Tprkb |
T |
C |
6: 85,904,893 (GRCm39) |
V123A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,175,540 (GRCm39) |
Y1213H |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,313,868 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,603,007 (GRCm39) |
Y140C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,409,760 (GRCm39) |
S28P |
possibly damaging |
Het |
|
| Other mutations in Kbtbd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Kbtbd8
|
APN |
6 |
95,103,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Kbtbd8
|
APN |
6 |
95,099,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Kbtbd8
|
APN |
6 |
95,099,789 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01656:Kbtbd8
|
APN |
6 |
95,095,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02100:Kbtbd8
|
APN |
6 |
95,099,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Kbtbd8
|
APN |
6 |
95,103,517 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02982:Kbtbd8
|
APN |
6 |
95,103,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03074:Kbtbd8
|
APN |
6 |
95,099,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0782:Kbtbd8
|
UTSW |
6 |
95,099,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Kbtbd8
|
UTSW |
6 |
95,103,664 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2329:Kbtbd8
|
UTSW |
6 |
95,103,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Kbtbd8
|
UTSW |
6 |
95,103,570 (GRCm39) |
nonsense |
probably null |
|
|
R3906:Kbtbd8
|
UTSW |
6 |
95,103,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Kbtbd8
|
UTSW |
6 |
95,103,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4915:Kbtbd8
|
UTSW |
6 |
95,103,515 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5141:Kbtbd8
|
UTSW |
6 |
95,098,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Kbtbd8
|
UTSW |
6 |
95,098,813 (GRCm39) |
nonsense |
probably null |
|
|
R5779:Kbtbd8
|
UTSW |
6 |
95,095,515 (GRCm39) |
missense |
probably benign |
|
|
R6645:Kbtbd8
|
UTSW |
6 |
95,103,730 (GRCm39) |
nonsense |
probably null |
|
|
R7073:Kbtbd8
|
UTSW |
6 |
95,098,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Kbtbd8
|
UTSW |
6 |
95,103,677 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7600:Kbtbd8
|
UTSW |
6 |
95,099,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Kbtbd8
|
UTSW |
6 |
95,095,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Kbtbd8
|
UTSW |
6 |
95,099,825 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Kbtbd8
|
UTSW |
6 |
95,103,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9747:Kbtbd8
|
UTSW |
6 |
95,098,838 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-04-16 |
Incidental Mutation