Incidental Mutation 'IGL01600:Kbtbd12'
| ID |
92138 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kbtbd12
|
| Ensembl Gene |
ENSMUSG00000033182 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 12 |
| Synonyms |
4933428M03Rik, 4833415F11Rik, Klhdc6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL01600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88521931-88604636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88595540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 97
(A97T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120933]
[ENSMUST00000184664]
[ENSMUST00000184878]
|
| AlphaFold |
Q9D618 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000038804
|
| SMART Domains |
Protein: ENSMUSP00000047155
Gene: ENSMUSG00000033182
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
29 |
126 |
1.39e-23 |
SMART |
|
BACK
|
131 |
233 |
6.69e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120933
AA Change: A97T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: A97T
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
29 |
126 |
1.39e-23 |
SMART |
|
BACK
|
131 |
233 |
6.69e-30 |
SMART |
|
Kelch
|
384 |
434 |
9.15e-3 |
SMART |
|
Kelch
|
435 |
490 |
4.3e-8 |
SMART |
|
Kelch
|
491 |
550 |
1.01e-1 |
SMART |
|
Kelch
|
551 |
601 |
1.92e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184664
|
| SMART Domains |
Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
19 |
77 |
6.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184878
|
| SMART Domains |
Protein: ENSMUSP00000139333
Gene: ENSMUSG00000033182
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
30 |
67 |
9.94e-1 |
SMART |
|
Kelch
|
68 |
127 |
1.01e-1 |
SMART |
|
Kelch
|
128 |
178 |
1.92e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203223
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
C |
A |
8: 22,517,541 (GRCm39) |
|
probably null |
Het |
| Ccr7 |
A |
G |
11: 99,035,971 (GRCm39) |
V317A |
probably benign |
Het |
| Dna2 |
T |
A |
10: 62,786,585 (GRCm39) |
I111K |
probably damaging |
Het |
| Egflam |
A |
G |
15: 7,249,245 (GRCm39) |
S858P |
probably damaging |
Het |
| Glt28d2 |
T |
C |
3: 85,779,290 (GRCm39) |
Y61C |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,151,015 (GRCm39) |
E1890G |
possibly damaging |
Het |
| Notch3 |
C |
A |
17: 32,363,472 (GRCm39) |
G1197V |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,712,006 (GRCm39) |
M279L |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,333,922 (GRCm39) |
I79L |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,841,871 (GRCm39) |
V181D |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,347 (GRCm39) |
D183E |
probably benign |
Het |
| Srsf11 |
G |
A |
3: 157,725,079 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,585 (GRCm39) |
V406A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,468 (GRCm39) |
H605L |
probably benign |
Het |
|
| Other mutations in Kbtbd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01845:Kbtbd12
|
APN |
6 |
88,590,922 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02447:Kbtbd12
|
APN |
6 |
88,595,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Kbtbd12
|
APN |
6 |
88,595,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Kbtbd12
|
APN |
6 |
88,595,311 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0334:Kbtbd12
|
UTSW |
6 |
88,594,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Kbtbd12
|
UTSW |
6 |
88,595,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Kbtbd12
|
UTSW |
6 |
88,595,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Kbtbd12
|
UTSW |
6 |
88,595,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2037:Kbtbd12
|
UTSW |
6 |
88,594,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3967:Kbtbd12
|
UTSW |
6 |
88,595,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4660:Kbtbd12
|
UTSW |
6 |
88,594,772 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4785:Kbtbd12
|
UTSW |
6 |
88,595,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Kbtbd12
|
UTSW |
6 |
88,594,681 (GRCm39) |
intron |
probably benign |
|
|
R5568:Kbtbd12
|
UTSW |
6 |
88,595,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:Kbtbd12
|
UTSW |
6 |
88,594,930 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6412:Kbtbd12
|
UTSW |
6 |
88,595,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Kbtbd12
|
UTSW |
6 |
88,591,062 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6776:Kbtbd12
|
UTSW |
6 |
88,595,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7046:Kbtbd12
|
UTSW |
6 |
88,595,497 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7157:Kbtbd12
|
UTSW |
6 |
88,595,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Kbtbd12
|
UTSW |
6 |
88,590,965 (GRCm39) |
nonsense |
probably null |
|
|
R7303:Kbtbd12
|
UTSW |
6 |
88,591,094 (GRCm39) |
missense |
unknown |
|
|
R7650:Kbtbd12
|
UTSW |
6 |
88,595,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Kbtbd12
|
UTSW |
6 |
88,595,179 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7982:Kbtbd12
|
UTSW |
6 |
88,595,616 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8103:Kbtbd12
|
UTSW |
6 |
88,595,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Kbtbd12
|
UTSW |
6 |
88,594,913 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8305:Kbtbd12
|
UTSW |
6 |
88,595,132 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9072:Kbtbd12
|
UTSW |
6 |
88,595,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Kbtbd12
|
UTSW |
6 |
88,595,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9438:Kbtbd12
|
UTSW |
6 |
88,591,040 (GRCm39) |
nonsense |
probably null |
|
|
R9773:Kbtbd12
|
UTSW |
6 |
88,524,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kbtbd12
|
UTSW |
6 |
88,595,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation