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? |
Probably non essential
(E-score: 0.246)
|
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 |