Incidental Mutation 'IGL03059:Klhl28'
| ID |
409369 |
| 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 # |
IGL03059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
64985607-65012308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64998340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 385
(A385T)
|
| 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: A385T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: A385T
| 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: A385T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
| Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
| Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
| Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
| Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
| Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
| Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
| L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
| Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
| Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
| Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
| Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
| Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
| Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
| Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,746 (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 |
|
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 |
|
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