Incidental Mutation 'IGL02634:Klhl20'
ID |
301433 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl20
|
Ensembl Gene |
ENSMUSG00000026705 |
Gene Name |
kelch-like 20 |
Synonyms |
D930050H05Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.604)
|
Stock # |
IGL02634
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 160925935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 438
(V438M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111611]
[ENSMUST00000117467]
[ENSMUST00000195584]
|
AlphaFold |
Q8VCK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111611
AA Change: V438M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107238 Gene: ENSMUSG00000026705 AA Change: V438M
Domain | Start | End | E-Value | Type |
BTB
|
63 |
160 |
2.73e-31 |
SMART |
BACK
|
165 |
267 |
1.98e-41 |
SMART |
Kelch
|
314 |
360 |
8.45e-16 |
SMART |
Kelch
|
361 |
408 |
1.35e-14 |
SMART |
Kelch
|
409 |
455 |
5.12e-15 |
SMART |
Kelch
|
456 |
502 |
1.22e-12 |
SMART |
Kelch
|
503 |
549 |
1.35e-14 |
SMART |
Kelch
|
550 |
596 |
1.59e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117467
AA Change: V438M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114044 Gene: ENSMUSG00000026705 AA Change: V438M
Domain | Start | End | E-Value | Type |
BTB
|
63 |
160 |
2.73e-31 |
SMART |
BACK
|
165 |
267 |
1.98e-41 |
SMART |
Kelch
|
314 |
360 |
8.45e-16 |
SMART |
Kelch
|
361 |
408 |
1.35e-14 |
SMART |
Kelch
|
409 |
455 |
5.12e-15 |
SMART |
Kelch
|
456 |
502 |
1.22e-12 |
SMART |
Kelch
|
503 |
549 |
1.35e-14 |
SMART |
Kelch
|
550 |
596 |
1.59e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195584
|
SMART Domains |
Protein: ENSMUSP00000141213 Gene: ENSMUSG00000026705
Domain | Start | End | E-Value | Type |
Kelch
|
1 |
40 |
1.43e-4 |
SMART |
Kelch
|
41 |
87 |
1.59e-11 |
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 protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit male sterility. Mice homozygous for a gene trap allele exhibit corneal vascularization and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
Enpep |
T |
C |
3: 129,103,506 (GRCm39) |
E361G |
probably damaging |
Het |
Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
Ggcx |
G |
T |
6: 72,395,286 (GRCm39) |
A126S |
probably damaging |
Het |
Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
Ksr2 |
T |
C |
5: 117,901,394 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,653 (GRCm39) |
S31F |
probably damaging |
Het |
Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,285,356 (GRCm39) |
I436T |
probably damaging |
Het |
Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Klhl20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00777:Klhl20
|
APN |
1 |
160,937,325 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00903:Klhl20
|
APN |
1 |
160,918,076 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01574:Klhl20
|
APN |
1 |
160,921,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01721:Klhl20
|
APN |
1 |
160,923,157 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Klhl20
|
APN |
1 |
160,934,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02187:Klhl20
|
APN |
1 |
160,937,280 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02691:Klhl20
|
APN |
1 |
160,934,444 (GRCm39) |
splice site |
probably benign |
|
R0102:Klhl20
|
UTSW |
1 |
160,918,015 (GRCm39) |
nonsense |
probably null |
|
R0102:Klhl20
|
UTSW |
1 |
160,918,015 (GRCm39) |
nonsense |
probably null |
|
R0639:Klhl20
|
UTSW |
1 |
160,921,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Klhl20
|
UTSW |
1 |
160,930,560 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1856:Klhl20
|
UTSW |
1 |
160,934,312 (GRCm39) |
missense |
probably benign |
0.00 |
R2016:Klhl20
|
UTSW |
1 |
160,930,608 (GRCm39) |
missense |
probably damaging |
0.98 |
R2901:Klhl20
|
UTSW |
1 |
160,937,122 (GRCm39) |
nonsense |
probably null |
|
R4822:Klhl20
|
UTSW |
1 |
160,921,333 (GRCm39) |
nonsense |
probably null |
|
R4830:Klhl20
|
UTSW |
1 |
160,925,946 (GRCm39) |
missense |
probably benign |
0.00 |
R4894:Klhl20
|
UTSW |
1 |
160,937,102 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4981:Klhl20
|
UTSW |
1 |
160,930,575 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5018:Klhl20
|
UTSW |
1 |
160,929,156 (GRCm39) |
missense |
probably damaging |
0.98 |
R5023:Klhl20
|
UTSW |
1 |
160,936,790 (GRCm39) |
critical splice donor site |
probably null |
|
R5108:Klhl20
|
UTSW |
1 |
160,926,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R5216:Klhl20
|
UTSW |
1 |
160,921,249 (GRCm39) |
critical splice donor site |
probably null |
|
R5659:Klhl20
|
UTSW |
1 |
160,918,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R6159:Klhl20
|
UTSW |
1 |
160,933,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R6836:Klhl20
|
UTSW |
1 |
160,932,976 (GRCm39) |
missense |
probably benign |
0.18 |
R6914:Klhl20
|
UTSW |
1 |
160,921,266 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6915:Klhl20
|
UTSW |
1 |
160,921,266 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6920:Klhl20
|
UTSW |
1 |
160,921,266 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7706:Klhl20
|
UTSW |
1 |
160,936,827 (GRCm39) |
missense |
probably benign |
0.01 |
R7976:Klhl20
|
UTSW |
1 |
160,934,307 (GRCm39) |
missense |
probably benign |
0.02 |
R7991:Klhl20
|
UTSW |
1 |
160,934,434 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8085:Klhl20
|
UTSW |
1 |
160,921,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R8118:Klhl20
|
UTSW |
1 |
160,925,971 (GRCm39) |
splice site |
probably null |
|
R8204:Klhl20
|
UTSW |
1 |
160,934,414 (GRCm39) |
missense |
probably benign |
0.04 |
R8678:Klhl20
|
UTSW |
1 |
160,936,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9093:Klhl20
|
UTSW |
1 |
160,923,231 (GRCm39) |
nonsense |
probably null |
|
R9094:Klhl20
|
UTSW |
1 |
160,933,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R9360:Klhl20
|
UTSW |
1 |
160,921,269 (GRCm39) |
missense |
probably benign |
0.06 |
R9532:Klhl20
|
UTSW |
1 |
160,937,329 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |