Incidental Mutation 'IGL01459:Kbtbd8'
| ID |
87936 |
| 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 # |
IGL01459
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
95094861-95106774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95099789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 356
(N356D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032107]
[ENSMUST00000119582]
[ENSMUST00000122938]
|
| AlphaFold |
Q3UQV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032107
AA Change: N433D
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: N433D
| 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
AA Change: N356D
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: N356D
| 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: ENSMUST00000145387
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably 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 |
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation