Incidental Mutation 'IGL00903:Klhl20'
ID |
26604 |
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 # |
IGL00903
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 160918076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 70
(Y70C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141213
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028035]
[ENSMUST00000111611]
[ENSMUST00000111618]
[ENSMUST00000111620]
[ENSMUST00000117467]
[ENSMUST00000143486]
[ENSMUST00000195584]
[ENSMUST00000192850]
[ENSMUST00000195571]
[ENSMUST00000192150]
|
AlphaFold |
Q8VCK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028035
|
SMART Domains |
Protein: ENSMUSP00000028035 Gene: ENSMUSG00000026708
Domain | Start | End | E-Value | Type |
Pfam:CENP-L
|
177 |
327 |
3.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111611
AA Change: Y579C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107238 Gene: ENSMUSG00000026705 AA Change: Y579C
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 benign
Transcript: ENSMUST00000111618
|
SMART Domains |
Protein: ENSMUSP00000107245 Gene: ENSMUSG00000026708
Domain | Start | End | E-Value | Type |
Pfam:CENP-L
|
177 |
327 |
5.4e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111620
|
SMART Domains |
Protein: ENSMUSP00000107247 Gene: ENSMUSG00000026708
Domain | Start | End | E-Value | Type |
Pfam:CENP-L
|
178 |
325 |
1.2e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117467
AA Change: Y579C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114044 Gene: ENSMUSG00000026705 AA Change: Y579C
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 |
probably benign
Transcript: ENSMUST00000143486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195584
AA Change: Y70C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141213 Gene: ENSMUSG00000026705 AA Change: Y70C
Domain | Start | End | E-Value | Type |
Kelch
|
1 |
40 |
1.43e-4 |
SMART |
Kelch
|
41 |
87 |
1.59e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192850
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195571
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192150
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsk |
A |
G |
13: 76,246,487 (GRCm39) |
|
probably null |
Het |
As3mt |
A |
G |
19: 46,700,673 (GRCm39) |
I159V |
probably benign |
Het |
Atpsckmt |
T |
C |
15: 31,606,261 (GRCm39) |
V73A |
possibly damaging |
Het |
Ctsll3 |
C |
A |
13: 60,948,075 (GRCm39) |
V201L |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,211 (GRCm39) |
Y1275H |
probably damaging |
Het |
Erap1 |
G |
A |
13: 74,821,826 (GRCm39) |
R727H |
probably benign |
Het |
Fcrl6 |
T |
A |
1: 172,426,674 (GRCm39) |
T91S |
probably benign |
Het |
Gvin1 |
T |
C |
7: 105,757,377 (GRCm39) |
E2364G |
probably benign |
Het |
Hacd3 |
T |
C |
9: 64,911,535 (GRCm39) |
|
probably benign |
Het |
Hcls1 |
T |
A |
16: 36,776,383 (GRCm39) |
|
probably null |
Het |
Igf2r |
C |
T |
17: 12,902,754 (GRCm39) |
R2432H |
possibly damaging |
Het |
Kif27 |
C |
A |
13: 58,492,486 (GRCm39) |
V218F |
possibly damaging |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lcn12 |
G |
T |
2: 25,383,332 (GRCm39) |
N15K |
possibly damaging |
Het |
Mrgpra1 |
T |
C |
7: 46,985,326 (GRCm39) |
M118V |
probably benign |
Het |
Nacad |
G |
T |
11: 6,550,632 (GRCm39) |
T853K |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,574,860 (GRCm39) |
Q293L |
probably damaging |
Het |
Prkca |
C |
T |
11: 107,874,800 (GRCm39) |
V381M |
probably damaging |
Het |
Ptcd3 |
A |
G |
6: 71,884,828 (GRCm39) |
F37S |
possibly damaging |
Het |
Ptgs2 |
A |
G |
1: 149,980,175 (GRCm39) |
Y371C |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,254,516 (GRCm39) |
Y143C |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,949,343 (GRCm39) |
|
probably benign |
Het |
Scube1 |
T |
A |
15: 83,587,702 (GRCm39) |
H89L |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,938,315 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,682,774 (GRCm39) |
V810A |
probably damaging |
Het |
Vmn2r61 |
T |
G |
7: 41,949,935 (GRCm39) |
F785C |
probably damaging |
Het |
Zfas1 |
G |
T |
2: 166,907,406 (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 |
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 |
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 |
2013-04-17 |