Incidental Mutation 'IGL02447:Kbtbd12'
| ID |
294039 |
| 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: 0.068)
|
| Stock # |
IGL02447
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88521931-88604636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88595676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 51
(S51R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139069
(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 damaging
Transcript: ENSMUST00000120933
AA Change: S51R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: S51R
| 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 damaging
Transcript: ENSMUST00000184664
AA Change: S51R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182
AA Change: S51R
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
A |
4: 144,401,269 (GRCm39) |
I72F |
probably benign |
Het |
| Abhd18 |
T |
A |
3: 40,888,208 (GRCm39) |
F351I |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,859,944 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
C |
T |
5: 98,178,267 (GRCm39) |
V48I |
possibly damaging |
Het |
| Bcl9l |
T |
C |
9: 44,418,631 (GRCm39) |
M823T |
probably benign |
Het |
| Card11 |
G |
A |
5: 140,892,679 (GRCm39) |
H129Y |
possibly damaging |
Het |
| Ccr1 |
A |
T |
9: 123,763,753 (GRCm39) |
V259E |
probably benign |
Het |
| Cdk13 |
G |
T |
13: 17,947,001 (GRCm39) |
P586T |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,243,807 (GRCm39) |
V1502I |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,942 (GRCm39) |
S32P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,678,516 (GRCm39) |
R492Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,127,949 (GRCm39) |
L78P |
probably damaging |
Het |
| Gm7361 |
T |
C |
5: 26,462,853 (GRCm39) |
S32P |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,855,976 (GRCm39) |
V234E |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,404,610 (GRCm39) |
I4477L |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,497 (GRCm39) |
|
probably null |
Het |
| Itpkb |
A |
G |
1: 180,248,919 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
T |
C |
12: 112,876,232 (GRCm39) |
Y799C |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,277,014 (GRCm39) |
K857R |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,291,851 (GRCm39) |
D346E |
probably damaging |
Het |
| Kcnh1 |
T |
A |
1: 191,907,224 (GRCm39) |
M92K |
possibly damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,751,819 (GRCm39) |
I142V |
probably damaging |
Het |
| Lsm11 |
T |
C |
11: 45,828,191 (GRCm39) |
N196D |
probably damaging |
Het |
| Mpeg1 |
G |
T |
19: 12,440,156 (GRCm39) |
C538F |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,333,951 (GRCm39) |
Q969* |
probably null |
Het |
| Nt5el |
A |
T |
13: 105,236,967 (GRCm39) |
S73C |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,204,511 (GRCm39) |
|
probably null |
Het |
| Pdcd5 |
A |
G |
7: 35,342,110 (GRCm39) |
V166A |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,543,636 (GRCm39) |
I745N |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,027 (GRCm39) |
T147A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,676,460 (GRCm39) |
D136V |
probably damaging |
Het |
| Ripor3 |
G |
T |
2: 167,834,750 (GRCm39) |
T247N |
probably damaging |
Het |
| Sgcd |
A |
C |
11: 46,870,082 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,734,251 (GRCm39) |
Y211H |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,314,129 (GRCm39) |
E494D |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,234,856 (GRCm39) |
E326G |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,753,316 (GRCm39) |
|
noncoding transcript |
Het |
| Tk2 |
T |
A |
8: 104,967,770 (GRCm39) |
N93I |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,240 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tox3 |
A |
G |
8: 90,984,781 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,941,401 (GRCm39) |
Y237C |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,797,856 (GRCm39) |
L547P |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,189,223 (GRCm39) |
D1421G |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,542,703 (GRCm39) |
I319K |
possibly damaging |
Het |
| Vac14 |
A |
G |
8: 111,380,260 (GRCm39) |
D441G |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,316 (GRCm39) |
V5M |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,429 (GRCm39) |
H560Q |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp773 |
G |
T |
7: 7,139,655 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kbtbd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01600:Kbtbd12
|
APN |
6 |
88,595,540 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01845:Kbtbd12
|
APN |
6 |
88,590,922 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
2015-04-16 |
Incidental Mutation