Incidental Mutation 'IGL03246:Klhl28'
| ID |
414394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl28
|
| Ensembl Gene |
ENSMUSG00000020948 |
| Gene Name |
kelch-like 28 |
| Synonyms |
Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL03246
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
64985607-65012308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65004060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
| 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: D151G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: D151G
| 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: D151G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,238 (GRCm39) |
H392Q |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,076,841 (GRCm39) |
I547L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,689,855 (GRCm39) |
H52R |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,433,842 (GRCm39) |
I979L |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,156 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,206,241 (GRCm39) |
P385T |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,848 (GRCm39) |
M299I |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,936 (GRCm39) |
I505N |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,663,455 (GRCm39) |
T1011I |
possibly damaging |
Het |
| Klk13 |
T |
A |
7: 43,370,422 (GRCm39) |
N28K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,420 (GRCm39) |
V396A |
probably benign |
Het |
| Mageb11 |
C |
A |
X: 89,936,008 (GRCm39) |
H87Q |
probably benign |
Het |
| Magi2 |
T |
A |
5: 20,563,948 (GRCm39) |
I360K |
probably damaging |
Het |
| Myh7b |
T |
C |
2: 155,459,792 (GRCm39) |
I251T |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,296,395 (GRCm39) |
I85K |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,919 (GRCm39) |
C311R |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,832,506 (GRCm39) |
M1490L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,631 (GRCm39) |
|
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,507,485 (GRCm39) |
K357R |
possibly damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,581,530 (GRCm39) |
T601I |
probably benign |
Het |
| Pof1b |
A |
T |
X: 111,557,817 (GRCm39) |
N366K |
probably benign |
Het |
| Prr9 |
A |
G |
3: 92,030,286 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,986,159 (GRCm39) |
A320S |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,342,490 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Rnf13 |
A |
G |
3: 57,676,471 (GRCm39) |
E42G |
probably damaging |
Het |
| Sdf4 |
T |
C |
4: 156,085,154 (GRCm39) |
V163A |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,440,301 (GRCm39) |
Q16* |
probably null |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,119 (GRCm39) |
R85* |
probably null |
Het |
| Tbck |
T |
A |
3: 132,480,331 (GRCm39) |
C737S |
probably benign |
Het |
| Tra2a |
A |
T |
6: 49,226,019 (GRCm39) |
Y140* |
probably null |
Het |
| Vcpip1 |
A |
C |
1: 9,816,182 (GRCm39) |
L734V |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,866,288 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation