Incidental Mutation 'R6666:Klhl28'
| ID |
526987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl28
|
| Ensembl Gene |
ENSMUSG00000020948 |
| Gene Name |
kelch-like 28 |
| Synonyms |
Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik |
| MMRRC Submission |
044786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6666 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
64985607-65012308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64990301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 547
(D547N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021331]
[ENSMUST00000222508]
|
| AlphaFold |
Q9CR40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021331
AA Change: D547N
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: D547N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
35 |
132 |
3.55e-30 |
SMART |
|
BACK
|
137 |
239 |
1.83e-36 |
SMART |
|
Kelch
|
284 |
331 |
3.52e-4 |
SMART |
|
Kelch
|
332 |
386 |
4.23e-7 |
SMART |
|
Kelch
|
387 |
433 |
1.99e-12 |
SMART |
|
Kelch
|
434 |
479 |
1.64e-13 |
SMART |
|
Kelch
|
480 |
526 |
5.12e-15 |
SMART |
|
Kelch
|
527 |
571 |
5.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
AA Change: D547N
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
C |
A |
10: 21,469,228 (GRCm39) |
|
probably null |
Het |
| Arhgap24 |
A |
G |
5: 102,700,163 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
T |
14: 56,610,821 (GRCm39) |
V322L |
probably benign |
Het |
| Capza1 |
A |
C |
3: 104,735,922 (GRCm39) |
|
probably null |
Het |
| Cela3a |
A |
T |
4: 137,131,175 (GRCm39) |
S188T |
probably benign |
Het |
| Cplx1 |
G |
T |
5: 108,668,031 (GRCm39) |
Y123* |
probably null |
Het |
| Ddias |
A |
T |
7: 92,507,289 (GRCm39) |
D875E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,670,172 (GRCm39) |
E715G |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,376,426 (GRCm39) |
T380A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,562,470 (GRCm39) |
V1270A |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,552,613 (GRCm39) |
F367S |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gprc5a |
A |
G |
6: 135,056,473 (GRCm39) |
I307V |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,582 (GRCm39) |
D212G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,920,856 (GRCm39) |
V1029A |
probably damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,477,772 (GRCm39) |
H281L |
probably damaging |
Het |
| Il2rb |
TAGTCA |
TAGTCAGTCA |
15: 78,366,034 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,956,652 (GRCm39) |
T170A |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,588,974 (GRCm39) |
E345G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,398,214 (GRCm39) |
I680T |
probably benign |
Het |
| Limk2 |
T |
A |
11: 3,310,493 (GRCm39) |
E49D |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,151,656 (GRCm39) |
F120I |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,525,862 (GRCm39) |
N802Y |
possibly damaging |
Het |
| Ms4a2 |
C |
T |
19: 11,595,787 (GRCm39) |
S168N |
probably benign |
Het |
| Myct1 |
T |
C |
10: 5,554,333 (GRCm39) |
S67P |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,638 (GRCm39) |
E933G |
probably damaging |
Het |
| Naif1 |
C |
A |
2: 32,344,863 (GRCm39) |
T189K |
probably damaging |
Het |
| Nppb |
A |
G |
4: 148,070,463 (GRCm39) |
I11V |
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,620,200 (GRCm39) |
D29G |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,618,338 (GRCm39) |
Y782C |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,331 (GRCm39) |
I277F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,135 (GRCm39) |
|
probably null |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,413,516 (GRCm39) |
T375A |
probably benign |
Het |
| Pcdhgb1 |
G |
T |
18: 37,814,546 (GRCm39) |
E346* |
probably null |
Het |
| Pds5b |
G |
T |
5: 150,701,631 (GRCm39) |
S754I |
probably damaging |
Het |
| Scnn1g |
G |
A |
7: 121,366,611 (GRCm39) |
D603N |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,534 (GRCm39) |
D386G |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,425,083 (GRCm39) |
L493P |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,024,910 (GRCm39) |
E262G |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,963 (GRCm39) |
T567A |
possibly damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,826,615 (GRCm39) |
K846I |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,720,140 (GRCm39) |
T1113A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,596 (GRCm39) |
S535R |
probably benign |
Het |
|
| Other mutations in Klhl28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Klhl28
|
APN |
12 |
64,996,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03059:Klhl28
|
APN |
12 |
64,998,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03246:Klhl28
|
APN |
12 |
65,004,060 (GRCm39) |
missense |
probably benign |
|
|
R0014:Klhl28
|
UTSW |
12 |
65,004,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0607:Klhl28
|
UTSW |
12 |
64,998,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Klhl28
|
UTSW |
12 |
64,998,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1134:Klhl28
|
UTSW |
12 |
64,998,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Klhl28
|
UTSW |
12 |
65,003,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Klhl28
|
UTSW |
12 |
64,998,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Klhl28
|
UTSW |
12 |
64,990,246 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3832:Klhl28
|
UTSW |
12 |
64,998,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Klhl28
|
UTSW |
12 |
65,004,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Klhl28
|
UTSW |
12 |
64,996,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Klhl28
|
UTSW |
12 |
65,004,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Klhl28
|
UTSW |
12 |
65,004,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4872:Klhl28
|
UTSW |
12 |
65,003,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5007:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5008:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5010:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5068:Klhl28
|
UTSW |
12 |
65,004,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5070:Klhl28
|
UTSW |
12 |
65,004,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7812:Klhl28
|
UTSW |
12 |
64,990,363 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7951:Klhl28
|
UTSW |
12 |
65,003,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Klhl28
|
UTSW |
12 |
64,998,431 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8411:Klhl28
|
UTSW |
12 |
64,996,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8526:Klhl28
|
UTSW |
12 |
64,998,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9103:Klhl28
|
UTSW |
12 |
64,990,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9769:Klhl28
|
UTSW |
12 |
64,998,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9789:Klhl28
|
UTSW |
12 |
64,996,871 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCAGTGCAGCTAGCTG -3'
(R):5'- AGCCTATATTGCTGTATTGCCTG -3'
Sequencing Primer
(F):5'- TAGCTGTCAGGTTCAGGACAC -3'
(R):5'- CTCTGTGGGACATAGTCTA -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation