Incidental Mutation 'IGL02538:Klhl1'
ID |
297579 |
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 # |
IGL02538
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96477649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 473
(N473S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
AlphaFold |
Q9JI74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022666
AA Change: N473S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000022666 Gene: ENSMUSG00000022076 AA Change: N473S
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,136,949 (GRCm39) |
I171L |
possibly damaging |
Het |
Amdhd1 |
C |
T |
10: 93,363,108 (GRCm39) |
V327I |
probably damaging |
Het |
Ankrd1 |
T |
C |
19: 36,092,456 (GRCm39) |
H257R |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,307,658 (GRCm39) |
T1531A |
probably benign |
Het |
Bsn |
A |
G |
9: 107,982,435 (GRCm39) |
S1001P |
unknown |
Het |
Btn1a1 |
T |
C |
13: 23,643,385 (GRCm39) |
T355A |
possibly damaging |
Het |
Cd22 |
G |
T |
7: 30,576,985 (GRCm39) |
N107K |
probably benign |
Het |
Ceacam10 |
A |
G |
7: 24,477,908 (GRCm39) |
H141R |
probably damaging |
Het |
Chil3 |
T |
C |
3: 106,071,445 (GRCm39) |
D73G |
probably damaging |
Het |
Cit |
C |
T |
5: 116,125,048 (GRCm39) |
Q1536* |
probably null |
Het |
Dmgdh |
T |
A |
13: 93,845,261 (GRCm39) |
I418K |
possibly damaging |
Het |
Efcab6 |
T |
A |
15: 83,938,722 (GRCm39) |
|
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,678,523 (GRCm39) |
I110V |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,096 (GRCm39) |
Y221C |
probably damaging |
Het |
Fezf1 |
T |
A |
6: 23,246,557 (GRCm39) |
K342N |
probably damaging |
Het |
Git2 |
A |
T |
5: 114,869,047 (GRCm39) |
|
probably benign |
Het |
Gm8126 |
A |
T |
14: 43,117,047 (GRCm39) |
R63W |
probably benign |
Het |
Ica1l |
T |
C |
1: 60,049,345 (GRCm39) |
K203E |
probably benign |
Het |
Iigp1c |
A |
T |
18: 60,378,944 (GRCm39) |
K160* |
probably null |
Het |
Inpp5d |
A |
G |
1: 87,623,088 (GRCm39) |
M393V |
probably null |
Het |
Kbtbd11 |
A |
G |
8: 15,078,841 (GRCm39) |
D480G |
probably damaging |
Het |
Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
Lhfpl6 |
C |
T |
3: 52,950,732 (GRCm39) |
A2V |
probably benign |
Het |
Lipk |
T |
A |
19: 34,024,279 (GRCm39) |
L354Q |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,861,546 (GRCm39) |
L225* |
probably null |
Het |
Mknk1 |
C |
T |
4: 115,717,288 (GRCm39) |
Q58* |
probably null |
Het |
Mmut |
A |
T |
17: 41,249,510 (GRCm39) |
I162F |
probably damaging |
Het |
Nol11 |
T |
A |
11: 107,064,199 (GRCm39) |
M518L |
probably benign |
Het |
Nubpl |
T |
C |
12: 52,357,477 (GRCm39) |
|
probably benign |
Het |
Nup35 |
T |
A |
2: 80,474,563 (GRCm39) |
S93R |
possibly damaging |
Het |
Or2t48 |
T |
C |
11: 58,420,816 (GRCm39) |
|
probably benign |
Het |
Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
Pex3 |
T |
C |
10: 13,411,344 (GRCm39) |
E178G |
possibly damaging |
Het |
Rad23b |
C |
A |
4: 55,370,457 (GRCm39) |
P161Q |
possibly damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,178,716 (GRCm39) |
S1128P |
probably damaging |
Het |
Terb2 |
T |
C |
2: 122,035,289 (GRCm39) |
|
probably benign |
Het |
Trim72 |
A |
G |
7: 127,603,942 (GRCm39) |
Y96C |
probably damaging |
Het |
Tyk2 |
T |
C |
9: 21,022,339 (GRCm39) |
D830G |
possibly damaging |
Het |
Uri1 |
A |
G |
7: 37,664,916 (GRCm39) |
S259P |
probably benign |
Het |
Usp38 |
A |
T |
8: 81,712,187 (GRCm39) |
L616H |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,125,269 (GRCm39) |
C73S |
probably damaging |
Het |
Wdr7 |
C |
A |
18: 63,929,306 (GRCm39) |
D1047E |
probably benign |
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 |
IGL02559:Klhl1
|
APN |
14 |
96,389,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |