Incidental Mutation 'IGL00777:Klhl20'
| ID |
11656 |
| 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 # |
IGL00777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 160937325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111611]
[ENSMUST00000117467]
|
| AlphaFold |
Q8VCK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111611
AA Change: T17A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: T17A
| 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: ENSMUST00000117467
AA Change: T17A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: T17A
| 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: ENSMUST00000145736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148952
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
| Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
| H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
| Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
| Mmp23 |
T |
G |
4: 155,735,464 (GRCm39) |
Y334S |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
| Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
| Rfk |
T |
A |
19: 17,372,700 (GRCm39) |
V74E |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,656,933 (GRCm39) |
C467R |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,634 (GRCm39) |
M369K |
probably benign |
Het |
| Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,671,924 (GRCm39) |
Y423H |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
probably benign |
Het |
|
| Other mutations in Klhl20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation