Incidental Mutation 'IGL01151:Kbtbd11'
ID |
51845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kbtbd11
|
Ensembl Gene |
ENSMUSG00000055675 |
Gene Name |
kelch repeat and BTB (POZ) domain containing 11 |
Synonyms |
4930465M17Rik, 2900016B01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL01151
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
15061025-15083333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15079176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 592
(D592Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069399]
[ENSMUST00000183471]
|
AlphaFold |
Q8BNW9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069399
AA Change: D592Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068321 Gene: ENSMUSG00000055675 AA Change: D592Y
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
88 |
114 |
N/A |
INTRINSIC |
BTB
|
146 |
237 |
1.74e-15 |
SMART |
low complexity region
|
289 |
311 |
N/A |
INTRINSIC |
Blast:BTB
|
318 |
358 |
2e-16 |
BLAST |
Kelch
|
366 |
418 |
5.26e-3 |
SMART |
Kelch
|
419 |
463 |
4.65e-4 |
SMART |
Kelch
|
464 |
506 |
1.71e-1 |
SMART |
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183471
AA Change: D592Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139292 Gene: ENSMUSG00000055675 AA Change: D592Y
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
low complexity region
|
88 |
114 |
N/A |
INTRINSIC |
BTB
|
146 |
237 |
1.74e-15 |
SMART |
low complexity region
|
289 |
311 |
N/A |
INTRINSIC |
Blast:BTB
|
318 |
358 |
2e-16 |
BLAST |
Kelch
|
366 |
418 |
5.26e-3 |
SMART |
Kelch
|
419 |
463 |
4.65e-4 |
SMART |
Kelch
|
464 |
506 |
1.71e-1 |
SMART |
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192473
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
Het |
|
Other mutations in Kbtbd11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02160:Kbtbd11
|
APN |
8 |
15,078,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02538:Kbtbd11
|
APN |
8 |
15,078,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03039:Kbtbd11
|
APN |
8 |
15,077,467 (GRCm39) |
missense |
probably benign |
0.00 |
R0152:Kbtbd11
|
UTSW |
8 |
15,077,428 (GRCm39) |
missense |
probably damaging |
0.96 |
R0242:Kbtbd11
|
UTSW |
8 |
15,077,508 (GRCm39) |
missense |
probably benign |
|
R0242:Kbtbd11
|
UTSW |
8 |
15,077,508 (GRCm39) |
missense |
probably benign |
|
R0453:Kbtbd11
|
UTSW |
8 |
15,077,499 (GRCm39) |
missense |
probably benign |
0.01 |
R0498:Kbtbd11
|
UTSW |
8 |
15,077,605 (GRCm39) |
missense |
probably benign |
|
R0629:Kbtbd11
|
UTSW |
8 |
15,077,572 (GRCm39) |
missense |
probably benign |
|
R2031:Kbtbd11
|
UTSW |
8 |
15,078,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2214:Kbtbd11
|
UTSW |
8 |
15,079,178 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3720:Kbtbd11
|
UTSW |
8 |
15,079,118 (GRCm39) |
nonsense |
probably null |
|
R3722:Kbtbd11
|
UTSW |
8 |
15,079,118 (GRCm39) |
nonsense |
probably null |
|
R4355:Kbtbd11
|
UTSW |
8 |
15,078,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Kbtbd11
|
UTSW |
8 |
15,078,917 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5037:Kbtbd11
|
UTSW |
8 |
15,077,886 (GRCm39) |
missense |
probably benign |
0.25 |
R5312:Kbtbd11
|
UTSW |
8 |
15,078,589 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5936:Kbtbd11
|
UTSW |
8 |
15,077,534 (GRCm39) |
missense |
probably benign |
0.00 |
R6056:Kbtbd11
|
UTSW |
8 |
15,077,577 (GRCm39) |
missense |
probably benign |
|
R6272:Kbtbd11
|
UTSW |
8 |
15,079,118 (GRCm39) |
nonsense |
probably null |
|
R6547:Kbtbd11
|
UTSW |
8 |
15,077,641 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7126:Kbtbd11
|
UTSW |
8 |
15,078,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Kbtbd11
|
UTSW |
8 |
15,078,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8350:Kbtbd11
|
UTSW |
8 |
15,078,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8450:Kbtbd11
|
UTSW |
8 |
15,078,603 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Kbtbd11
|
UTSW |
8 |
15,077,839 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kbtbd11
|
UTSW |
8 |
15,077,694 (GRCm39) |
missense |
probably benign |
0.14 |
|
Posted On |
2013-06-21 |