Incidental Mutation 'IGL01485:Klhl30'
| ID |
88728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl30
|
| Ensembl Gene |
ENSMUSG00000026308 |
| Gene Name |
kelch-like 30 |
| Synonyms |
4631423F02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91278795-91290126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91281761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 121
(V121I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027533]
|
| AlphaFold |
Q8C3F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027533
AA Change: V121I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: V121I
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.41e-24 |
SMART |
|
BACK
|
135 |
237 |
5.11e-26 |
SMART |
|
Kelch
|
328 |
378 |
2.2e-5 |
SMART |
|
Kelch
|
379 |
423 |
7.4e-2 |
SMART |
|
Kelch
|
473 |
514 |
1e1 |
SMART |
|
Kelch
|
515 |
564 |
2.7e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,927,003 (GRCm39) |
L888F |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,642,507 (GRCm39) |
A842E |
probably damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,592 (GRCm39) |
M257K |
probably benign |
Het |
| Anks1 |
T |
C |
17: 28,270,558 (GRCm39) |
F786L |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,163,365 (GRCm39) |
I20N |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,861,832 (GRCm39) |
T4M |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
| Fap |
G |
A |
2: 62,374,655 (GRCm39) |
P248L |
possibly damaging |
Het |
| Hps4 |
T |
A |
5: 112,512,377 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
C |
A |
9: 65,029,889 (GRCm39) |
T313K |
probably benign |
Het |
| Ldb3 |
C |
A |
14: 34,264,519 (GRCm39) |
E526D |
probably damaging |
Het |
| Ldc1 |
T |
A |
4: 130,109,218 (GRCm39) |
Y274F |
probably benign |
Het |
| Lhfpl4 |
T |
A |
6: 113,171,082 (GRCm39) |
I35F |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,612,358 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,502,860 (GRCm39) |
C436S |
probably benign |
Het |
| Nek5 |
C |
A |
8: 22,573,385 (GRCm39) |
A524S |
probably benign |
Het |
| Nkx2-3 |
C |
T |
19: 43,601,094 (GRCm39) |
T52M |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,036 (GRCm39) |
I305T |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,627 (GRCm39) |
|
probably null |
Het |
| Or8b56 |
G |
A |
9: 38,739,895 (GRCm39) |
V303I |
possibly damaging |
Het |
| Pappa |
T |
C |
4: 65,107,536 (GRCm39) |
V649A |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,859,661 (GRCm39) |
Y920N |
possibly damaging |
Het |
| Pdgfra |
G |
A |
5: 75,324,313 (GRCm39) |
S56N |
probably benign |
Het |
| Pigg |
T |
C |
5: 108,484,067 (GRCm39) |
V438A |
possibly damaging |
Het |
| Ptn |
A |
T |
6: 36,720,298 (GRCm39) |
C85S |
probably damaging |
Het |
| Sh3rf1 |
A |
C |
8: 61,782,365 (GRCm39) |
E169A |
possibly damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,616 (GRCm39) |
V119E |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,364,471 (GRCm39) |
E178G |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,665 (GRCm39) |
Y3105C |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,430,045 (GRCm39) |
E366G |
possibly damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,082,234 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,219,429 (GRCm39) |
F542L |
probably benign |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,171 (GRCm39) |
D28E |
possibly damaging |
Het |
|
| Other mutations in Klhl30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Klhl30
|
APN |
1 |
91,281,879 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02698:Klhl30
|
APN |
1 |
91,281,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Klhl30
|
APN |
1 |
91,281,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
BB016:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0458:Klhl30
|
UTSW |
1 |
91,288,718 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Klhl30
|
UTSW |
1 |
91,282,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0621:Klhl30
|
UTSW |
1 |
91,285,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Klhl30
|
UTSW |
1 |
91,283,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1240:Klhl30
|
UTSW |
1 |
91,288,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1374:Klhl30
|
UTSW |
1 |
91,288,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Klhl30
|
UTSW |
1 |
91,285,636 (GRCm39) |
splice site |
probably null |
|
|
R2126:Klhl30
|
UTSW |
1 |
91,286,499 (GRCm39) |
splice site |
probably null |
|
|
R2152:Klhl30
|
UTSW |
1 |
91,285,546 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3913:Klhl30
|
UTSW |
1 |
91,287,166 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4031:Klhl30
|
UTSW |
1 |
91,288,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4116:Klhl30
|
UTSW |
1 |
91,281,830 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4427:Klhl30
|
UTSW |
1 |
91,281,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Klhl30
|
UTSW |
1 |
91,288,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Klhl30
|
UTSW |
1 |
91,287,046 (GRCm39) |
splice site |
probably null |
|
|
R4961:Klhl30
|
UTSW |
1 |
91,285,106 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5004:Klhl30
|
UTSW |
1 |
91,287,046 (GRCm39) |
splice site |
probably null |
|
|
R5062:Klhl30
|
UTSW |
1 |
91,283,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6298:Klhl30
|
UTSW |
1 |
91,285,086 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6299:Klhl30
|
UTSW |
1 |
91,285,636 (GRCm39) |
splice site |
probably null |
|
|
R6393:Klhl30
|
UTSW |
1 |
91,288,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6962:Klhl30
|
UTSW |
1 |
91,285,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7461:Klhl30
|
UTSW |
1 |
91,285,130 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7849:Klhl30
|
UTSW |
1 |
91,287,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7929:Klhl30
|
UTSW |
1 |
91,283,238 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8378:Klhl30
|
UTSW |
1 |
91,285,494 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Klhl30
|
UTSW |
1 |
91,287,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Klhl30
|
UTSW |
1 |
91,282,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9791:Klhl30
|
UTSW |
1 |
91,282,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Klhl30
|
UTSW |
1 |
91,287,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-11-18 |
Incidental Mutation