Incidental Mutation 'R1134:Klhl28'
ID |
94851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl28
|
Ensembl Gene |
ENSMUSG00000020948 |
Gene Name |
kelch-like 28 |
Synonyms |
Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik |
MMRRC Submission |
039207-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R1134 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
64985607-65012308 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64998391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 368
(S368P)
|
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: S368P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000021331 Gene: ENSMUSG00000020948 AA Change: S368P
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 |
noncoding transcript
Transcript: ENSMUST00000221957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
AA Change: S368P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl6 |
C |
A |
16: 23,787,115 (GRCm39) |
R595L |
probably benign |
Het |
Cd40 |
T |
A |
2: 164,912,738 (GRCm39) |
C230S |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dusp6 |
T |
C |
10: 99,100,816 (GRCm39) |
F271L |
probably damaging |
Het |
Endou |
A |
G |
15: 97,611,747 (GRCm39) |
V339A |
probably damaging |
Het |
Erich2 |
T |
A |
2: 70,366,535 (GRCm39) |
L370* |
probably null |
Het |
Fabp12 |
T |
C |
3: 10,312,731 (GRCm39) |
D97G |
probably benign |
Het |
Gk5 |
A |
G |
9: 96,015,460 (GRCm39) |
N92S |
probably benign |
Het |
Lhfpl2 |
C |
T |
13: 94,310,760 (GRCm39) |
S10L |
probably damaging |
Het |
Morc3 |
T |
C |
16: 93,667,557 (GRCm39) |
V645A |
probably benign |
Het |
Ms4a4d |
C |
T |
19: 11,535,298 (GRCm39) |
L199F |
possibly damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,476 (GRCm39) |
S291G |
probably damaging |
Het |
Or8k21 |
T |
C |
2: 86,145,525 (GRCm39) |
Y35C |
probably damaging |
Het |
Otog |
A |
G |
7: 45,947,938 (GRCm39) |
E2313G |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,655,272 (GRCm39) |
V1733A |
probably damaging |
Het |
Pgap4 |
T |
C |
4: 49,586,832 (GRCm39) |
Q112R |
probably benign |
Het |
Plcl2 |
G |
A |
17: 50,915,138 (GRCm39) |
V716I |
probably benign |
Het |
Plekhg2 |
G |
T |
7: 28,061,426 (GRCm39) |
S816R |
probably damaging |
Het |
Rev1 |
G |
A |
1: 38,096,768 (GRCm39) |
S810L |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,223,639 (GRCm39) |
V276L |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,525 (GRCm39) |
D274V |
probably benign |
Het |
Tmem225 |
T |
C |
9: 40,061,143 (GRCm39) |
L150P |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,951,972 (GRCm39) |
I909N |
possibly damaging |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,708,975 (GRCm39) |
I80T |
probably damaging |
Het |
Zcchc8 |
C |
G |
5: 123,855,090 (GRCm39) |
G40R |
probably damaging |
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 |
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 |
R6666:Klhl28
|
UTSW |
12 |
64,990,301 (GRCm39) |
missense |
probably benign |
0.11 |
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'- GCGTATAGCATTCCATCCAGGACAG -3'
(R):5'- GTGGAGATGTACTTTCCCCAGAATGAC -3'
Sequencing Primer
(F):5'- GCAGCAAAACAACTTCTTGTGG -3'
(R):5'- CCCCAGAATGACTCTTGGATTG -3'
|
Posted On |
2014-01-05 |