Incidental Mutation 'IGL02559:Klhl1'
ID |
298618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl1
|
Ensembl Gene |
ENSMUSG00000022076 |
Gene Name |
kelch-like 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
IGL02559
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96389396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
AlphaFold |
Q9JI74 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022666
AA Change: V586A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022666 Gene: ENSMUSG00000022076 AA Change: V586A
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
BTB
|
215 |
312 |
1.13e-28 |
SMART |
BACK
|
317 |
418 |
5.03e-34 |
SMART |
Kelch
|
463 |
509 |
8.86e-10 |
SMART |
Kelch
|
510 |
556 |
1.04e-15 |
SMART |
Kelch
|
557 |
603 |
6.76e-15 |
SMART |
Kelch
|
604 |
650 |
2.23e-15 |
SMART |
Kelch
|
651 |
703 |
3.09e-9 |
SMART |
Kelch
|
704 |
750 |
3.43e-16 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010] PHENOTYPE: Mice both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time. Dendritic atrophy of Purkinje cells is also seen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
possibly damaging |
Het |
|
Other mutations in Klhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01573:Klhl1
|
APN |
14 |
96,438,640 (GRCm39) |
splice site |
probably benign |
|
IGL02055:Klhl1
|
APN |
14 |
96,517,539 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02110:Klhl1
|
APN |
14 |
96,374,039 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02216:Klhl1
|
APN |
14 |
96,360,658 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02307:Klhl1
|
APN |
14 |
96,438,809 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02538:Klhl1
|
APN |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02682:Klhl1
|
APN |
14 |
96,438,778 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03228:Klhl1
|
APN |
14 |
96,477,763 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Klhl1
|
UTSW |
14 |
96,555,166 (GRCm39) |
intron |
probably benign |
|
P0041:Klhl1
|
UTSW |
14 |
96,517,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Klhl1
|
UTSW |
14 |
96,755,780 (GRCm39) |
start gained |
probably benign |
|
R0419:Klhl1
|
UTSW |
14 |
96,619,225 (GRCm39) |
missense |
probably benign |
0.30 |
R0938:Klhl1
|
UTSW |
14 |
96,389,476 (GRCm39) |
nonsense |
probably null |
|
R1465:Klhl1
|
UTSW |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
R1465:Klhl1
|
UTSW |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
R1590:Klhl1
|
UTSW |
14 |
96,606,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Klhl1
|
UTSW |
14 |
96,438,647 (GRCm39) |
critical splice donor site |
probably null |
|
R1893:Klhl1
|
UTSW |
14 |
96,477,642 (GRCm39) |
critical splice donor site |
probably null |
|
R1928:Klhl1
|
UTSW |
14 |
96,584,225 (GRCm39) |
missense |
probably benign |
0.02 |
R2272:Klhl1
|
UTSW |
14 |
96,755,344 (GRCm39) |
missense |
probably benign |
0.00 |
R3612:Klhl1
|
UTSW |
14 |
96,619,206 (GRCm39) |
critical splice donor site |
probably null |
|
R3852:Klhl1
|
UTSW |
14 |
96,517,641 (GRCm39) |
missense |
probably benign |
0.12 |
R3872:Klhl1
|
UTSW |
14 |
96,755,615 (GRCm39) |
missense |
probably benign |
0.03 |
R3874:Klhl1
|
UTSW |
14 |
96,755,615 (GRCm39) |
missense |
probably benign |
0.03 |
R3923:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3925:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3926:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4151:Klhl1
|
UTSW |
14 |
96,755,752 (GRCm39) |
start codon destroyed |
probably null |
0.73 |
R4502:Klhl1
|
UTSW |
14 |
96,755,282 (GRCm39) |
missense |
probably benign |
|
R4536:Klhl1
|
UTSW |
14 |
96,374,019 (GRCm39) |
critical splice donor site |
probably null |
|
R4729:Klhl1
|
UTSW |
14 |
96,517,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Klhl1
|
UTSW |
14 |
96,389,402 (GRCm39) |
missense |
probably benign |
0.39 |
R5001:Klhl1
|
UTSW |
14 |
96,374,046 (GRCm39) |
missense |
probably damaging |
0.96 |
R5022:Klhl1
|
UTSW |
14 |
96,374,142 (GRCm39) |
missense |
probably benign |
0.31 |
R5616:Klhl1
|
UTSW |
14 |
96,755,729 (GRCm39) |
missense |
probably benign |
0.44 |
R5634:Klhl1
|
UTSW |
14 |
96,477,707 (GRCm39) |
missense |
probably damaging |
0.96 |
R5700:Klhl1
|
UTSW |
14 |
96,755,476 (GRCm39) |
missense |
probably benign |
|
R5701:Klhl1
|
UTSW |
14 |
96,438,816 (GRCm39) |
missense |
probably benign |
|
R5934:Klhl1
|
UTSW |
14 |
96,360,651 (GRCm39) |
critical splice donor site |
probably null |
|
R5950:Klhl1
|
UTSW |
14 |
96,477,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R6454:Klhl1
|
UTSW |
14 |
96,517,527 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6496:Klhl1
|
UTSW |
14 |
96,477,652 (GRCm39) |
missense |
probably benign |
0.03 |
R6606:Klhl1
|
UTSW |
14 |
96,360,658 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6644:Klhl1
|
UTSW |
14 |
96,755,354 (GRCm39) |
missense |
probably benign |
|
R6745:Klhl1
|
UTSW |
14 |
96,517,438 (GRCm39) |
critical splice donor site |
probably null |
|
R6919:Klhl1
|
UTSW |
14 |
96,374,030 (GRCm39) |
missense |
probably benign |
0.00 |
R7029:Klhl1
|
UTSW |
14 |
96,755,632 (GRCm39) |
missense |
probably benign |
0.01 |
R7195:Klhl1
|
UTSW |
14 |
96,517,513 (GRCm39) |
missense |
probably benign |
0.08 |
R7467:Klhl1
|
UTSW |
14 |
96,360,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Klhl1
|
UTSW |
14 |
96,584,304 (GRCm39) |
missense |
probably benign |
0.09 |
R7650:Klhl1
|
UTSW |
14 |
96,584,379 (GRCm39) |
missense |
probably damaging |
0.96 |
R7817:Klhl1
|
UTSW |
14 |
96,374,186 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8221:Klhl1
|
UTSW |
14 |
96,517,546 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8444:Klhl1
|
UTSW |
14 |
96,755,326 (GRCm39) |
missense |
probably benign |
|
R8483:Klhl1
|
UTSW |
14 |
96,619,370 (GRCm39) |
missense |
probably benign |
|
R9100:Klhl1
|
UTSW |
14 |
96,584,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |