Incidental Mutation 'IGL01721:Klhl20'
ID |
105114 |
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: 0.613)
|
Stock # |
IGL01721
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 160923157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 13
(Y13C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111611]
[ENSMUST00000117467]
[ENSMUST00000195584]
|
AlphaFold |
Q8VCK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111611
AA Change: Y522C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107238 Gene: ENSMUSG00000026705 AA Change: Y522C
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: Y522C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114044 Gene: ENSMUSG00000026705 AA Change: Y522C
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 damaging
Transcript: ENSMUST00000195584
AA Change: Y13C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141213 Gene: ENSMUSG00000026705 AA Change: Y13C
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,023,453 (GRCm39) |
M51V |
possibly damaging |
Het |
Acad8 |
A |
G |
9: 26,903,563 (GRCm39) |
|
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,638,855 (GRCm39) |
V53A |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,722,624 (GRCm39) |
T298A |
probably benign |
Het |
Ccdc185 |
C |
T |
1: 182,576,543 (GRCm39) |
E49K |
possibly damaging |
Het |
Cfhr2 |
A |
G |
1: 139,741,352 (GRCm39) |
S208P |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,990,430 (GRCm39) |
Y1661H |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,085,367 (GRCm39) |
H435R |
probably benign |
Het |
Cog8 |
A |
G |
8: 107,780,697 (GRCm39) |
V187A |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,244,322 (GRCm39) |
H1532R |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,836,518 (GRCm39) |
Y336C |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,846,198 (GRCm39) |
Y444* |
probably null |
Het |
Egf |
A |
T |
3: 129,491,371 (GRCm39) |
C374* |
probably null |
Het |
Eif2b3 |
C |
T |
4: 116,916,001 (GRCm39) |
H203Y |
probably damaging |
Het |
Erbb4 |
A |
G |
1: 68,293,722 (GRCm39) |
V723A |
possibly damaging |
Het |
Fbxo21 |
T |
C |
5: 118,126,855 (GRCm39) |
I202T |
probably benign |
Het |
Gbp6 |
T |
C |
5: 105,422,073 (GRCm39) |
M544V |
probably benign |
Het |
Gm10750 |
T |
C |
2: 148,857,964 (GRCm39) |
T96A |
unknown |
Het |
Gm8232 |
A |
T |
14: 44,674,640 (GRCm39) |
|
probably null |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma3 |
T |
C |
11: 98,528,782 (GRCm39) |
V412A |
possibly damaging |
Het |
Hs6st1 |
A |
T |
1: 36,108,016 (GRCm39) |
H93L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,372,277 (GRCm39) |
E77K |
probably benign |
Het |
Ing3 |
T |
A |
6: 21,968,879 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,951,188 (GRCm39) |
I280M |
probably damaging |
Het |
Kazn |
C |
A |
4: 141,886,354 (GRCm39) |
|
probably null |
Het |
Krtap26-1 |
G |
A |
16: 88,444,060 (GRCm39) |
P187L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,765,720 (GRCm39) |
I1329K |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,200,984 (GRCm39) |
D223G |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,128,001 (GRCm39) |
E124G |
probably damaging |
Het |
Nfat5 |
G |
A |
8: 108,071,611 (GRCm39) |
|
probably null |
Het |
Nkain1 |
A |
G |
4: 130,532,134 (GRCm38) |
F184L |
probably benign |
Het |
Or8k25 |
T |
C |
2: 86,243,677 (GRCm39) |
T240A |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,719,491 (GRCm39) |
F110L |
probably damaging |
Het |
Rfx6 |
A |
C |
10: 51,599,173 (GRCm39) |
K509N |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,443,333 (GRCm39) |
L44P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,002,609 (GRCm39) |
R167Q |
probably damaging |
Het |
Sos2 |
T |
A |
12: 69,650,641 (GRCm39) |
T809S |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,533,811 (GRCm39) |
E3356G |
probably damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,155,905 (GRCm39) |
T70A |
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 |
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 |
IGL02634:Klhl20
|
APN |
1 |
160,925,935 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2014-01-21 |