Incidental Mutation 'IGL03074:Kbtbd8'
| ID |
417616 |
| 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 # |
IGL03074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
95094861-95106774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95099333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 204
(T204A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032107]
[ENSMUST00000119582]
[ENSMUST00000122938]
|
| AlphaFold |
Q3UQV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032107
AA Change: T281A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: T281A
| 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 damaging
Transcript: ENSMUST00000119582
AA Change: T204A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: T204A
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,201,101 (GRCm39) |
Y433F |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,140 (GRCm39) |
D57V |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,813,050 (GRCm39) |
V1486A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,174,435 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,403 (GRCm39) |
L196Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,682 (GRCm39) |
L1097P |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,735,662 (GRCm39) |
V339A |
possibly damaging |
Het |
| Dysf |
T |
A |
6: 84,165,208 (GRCm39) |
S1646T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,589,935 (GRCm39) |
Y893N |
probably damaging |
Het |
| Etv6 |
A |
T |
6: 134,199,888 (GRCm39) |
N76I |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fgf21 |
T |
C |
7: 45,263,605 (GRCm39) |
T158A |
probably benign |
Het |
| Gcm1 |
T |
C |
9: 77,972,057 (GRCm39) |
S333P |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,604 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,016,136 (GRCm39) |
F782L |
probably benign |
Het |
| Kcp |
A |
G |
6: 29,496,630 (GRCm39) |
C627R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,529,480 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,845,929 (GRCm39) |
M379T |
possibly damaging |
Het |
| Mcu |
A |
G |
10: 59,303,580 (GRCm39) |
S86P |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,546,400 (GRCm39) |
|
probably null |
Het |
| Or10ag59 |
T |
A |
2: 87,405,680 (GRCm39) |
L84H |
possibly damaging |
Het |
| Or5b117 |
A |
G |
19: 13,431,417 (GRCm39) |
S155P |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,158 (GRCm39) |
H400R |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,353 (GRCm39) |
N278D |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,763,758 (GRCm39) |
T759A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,454 (GRCm39) |
T318A |
probably benign |
Het |
| Rtkn2 |
T |
G |
10: 67,877,551 (GRCm39) |
L537R |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,137,103 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
T |
15: 96,490,405 (GRCm39) |
I124N |
possibly damaging |
Het |
| Sumf2 |
T |
A |
5: 129,888,674 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,324,680 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,710,877 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,913 (GRCm39) |
D692G |
probably benign |
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 |
|
IGL02133:Kbtbd8
|
APN |
6 |
95,098,713 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation