Incidental Mutation 'R3967:Kbtbd12'
| ID |
312389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd12
|
| Ensembl Gene |
ENSMUSG00000033182 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 12 |
| Synonyms |
4933428M03Rik, 4833415F11Rik, Klhdc6 |
| MMRRC Submission |
040838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
88521931-88604636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88595488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
| 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: V114A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: V114A
| 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
|
| Meta Mutation Damage Score |
0.3662 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
G |
T |
8: 122,266,719 (GRCm39) |
Q56K |
possibly damaging |
Het |
| Adam18 |
C |
A |
8: 25,119,726 (GRCm39) |
V518L |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,236 (GRCm39) |
K1883N |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,647,075 (GRCm39) |
A257E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,101,459 (GRCm39) |
C322* |
probably null |
Het |
| Enpp7 |
T |
C |
11: 118,881,827 (GRCm39) |
I324T |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm6871 |
A |
T |
7: 41,196,148 (GRCm39) |
H196Q |
probably damaging |
Het |
| Gm9964 |
T |
C |
11: 79,187,202 (GRCm39) |
T82A |
unknown |
Het |
| Gria2 |
T |
A |
3: 80,618,084 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Grtp1 |
G |
A |
8: 13,239,705 (GRCm39) |
T134I |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Myof |
C |
T |
19: 37,889,711 (GRCm39) |
V1287M |
probably damaging |
Het |
| Myof |
T |
G |
19: 38,011,058 (GRCm39) |
D60A |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Or10a3m |
A |
G |
7: 108,313,060 (GRCm39) |
M155V |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,018,995 (GRCm39) |
F829L |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,515,438 (GRCm39) |
C658R |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,312,845 (GRCm39) |
R175H |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Rnf39 |
C |
A |
17: 37,254,035 (GRCm39) |
T19K |
probably damaging |
Het |
| Slc16a3 |
C |
T |
11: 120,846,251 (GRCm39) |
T60M |
possibly damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,578,686 (GRCm39) |
H656N |
probably damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,032,431 (GRCm39) |
E184G |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,348,327 (GRCm39) |
V742A |
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,968,787 (GRCm39) |
V186D |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,057,315 (GRCm39) |
V491A |
probably damaging |
Het |
| Uri1 |
A |
G |
7: 37,664,927 (GRCm39) |
V253A |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,154 (GRCm39) |
N587K |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,647 (GRCm39) |
Y120F |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,215,673 (GRCm39) |
A149T |
probably damaging |
Het |
| Zfp536 |
T |
C |
7: 37,173,255 (GRCm39) |
*282W |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCGATGTCAAGTATTTCTCC -3'
(R):5'- GAAATTCCCTTGCCACAGACTG -3'
Sequencing Primer
(F):5'- GTCAAGTATTTCTCCATGAAGGC -3'
(R):5'- TTCAAGGCTATGTTCACCTGTGGAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation