Incidental Mutation 'IGL03039:Kbtbd11'
| ID |
408839 |
| 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 # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
15061025-15083333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15077467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 22
(D22G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069399]
[ENSMUST00000183471]
|
| AlphaFold |
Q8BNW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069399
AA Change: D22G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: D22G
| 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 benign
Transcript: ENSMUST00000183471
AA Change: D22G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: D22G
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,867 (GRCm39) |
K148E |
probably damaging |
Het |
| Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
| Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,184 (GRCm38) |
M276K |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,129,229 (GRCm39) |
|
probably null |
Het |
| Skint4 |
T |
C |
4: 111,981,847 (GRCm39) |
V272A |
probably benign |
Het |
| Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
| Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
| Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
| Wdfy2 |
T |
C |
14: 63,186,169 (GRCm39) |
V268A |
probably benign |
Het |
|
| Other mutations in Kbtbd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Kbtbd11
|
APN |
8 |
15,079,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation