Incidental Mutation 'IGL02851:Kbtbd12'
| ID |
361895 |
| 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 # |
IGL02851
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88521931-88604636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88595311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 173
(H173R)
|
| 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: H173R
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: H173R
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
T |
C |
12: 112,623,518 (GRCm39) |
E314G |
probably damaging |
Het |
| Amtn |
C |
A |
5: 88,529,481 (GRCm39) |
Q106K |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,916,184 (GRCm39) |
F1700S |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,861 (GRCm39) |
S905P |
possibly damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,236 (GRCm39) |
Q194* |
probably null |
Het |
| Cdc27 |
A |
G |
11: 104,417,807 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,401,897 (GRCm39) |
T100A |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,866,791 (GRCm39) |
H440R |
possibly damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,227 (GRCm39) |
D1202Y |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,180,570 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4c-ps |
T |
A |
3: 144,585,493 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
A |
G |
2: 148,677,203 (GRCm39) |
I25V |
probably benign |
Het |
| Dennd1b |
C |
A |
1: 139,096,705 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,928,570 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,973,159 (GRCm39) |
Q145P |
probably benign |
Het |
| Elovl5 |
C |
T |
9: 77,888,784 (GRCm39) |
T217M |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,812,840 (GRCm39) |
V906A |
possibly damaging |
Het |
| Gm10647 |
C |
T |
9: 66,705,543 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,723,918 (GRCm39) |
N736S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,814,423 (GRCm39) |
S1638P |
possibly damaging |
Het |
| Hsd3b2 |
T |
G |
3: 98,623,740 (GRCm39) |
E46A |
possibly damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,674 (GRCm39) |
T38A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,287,477 (GRCm39) |
V450L |
probably damaging |
Het |
| Man1a |
G |
A |
10: 53,795,340 (GRCm39) |
R638W |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,878 (GRCm39) |
S249T |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,627 (GRCm39) |
D700G |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,239,742 (GRCm39) |
H764R |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,470,747 (GRCm39) |
D1065G |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,569,770 (GRCm39) |
W288L |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,437,168 (GRCm39) |
A452S |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,328 (GRCm39) |
I210K |
probably benign |
Het |
| Or2h2 |
T |
C |
17: 37,397,048 (GRCm39) |
|
probably null |
Het |
| Os9 |
G |
A |
10: 126,935,262 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,326 (GRCm39) |
S1802P |
unknown |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,734,413 (GRCm39) |
A1024E |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,102,677 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,324,678 (GRCm39) |
S1022P |
probably damaging |
Het |
| Sc5d |
T |
C |
9: 42,166,690 (GRCm39) |
N283S |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,500,674 (GRCm39) |
V202M |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,949,197 (GRCm39) |
G60R |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,304,067 (GRCm39) |
I366T |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Tlr9 |
C |
T |
9: 106,101,929 (GRCm39) |
Q407* |
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,405 (GRCm39) |
S768L |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,050 (GRCm39) |
L63Q |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation