Incidental Mutation 'R5659:Klhl20'
| ID |
443959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl20
|
| Ensembl Gene |
ENSMUSG00000026705 |
| Gene Name |
kelch-like 20 |
| Synonyms |
D930050H05Rik |
| MMRRC Submission |
043303-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R5659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160918040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028035]
[ENSMUST00000111611]
[ENSMUST00000111618]
[ENSMUST00000111620]
[ENSMUST00000117467]
[ENSMUST00000143486]
[ENSMUST00000195584]
[ENSMUST00000195571]
[ENSMUST00000192850]
[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 damaging
Transcript: ENSMUST00000111611
AA Change: V591A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: V591A
| 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 damaging
Transcript: ENSMUST00000117467
AA Change: V591A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: V591A
| 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 damaging
Transcript: ENSMUST00000195584
AA Change: V82A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705
AA Change: V82A
| 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: ENSMUST00000195571
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192150
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
| Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
| Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
| Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
| Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
| Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
| Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
| Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
| Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
| Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
| Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
| Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
| Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
| Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
| Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
| Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
| Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
| Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
| Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
| Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
| Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGAATGTTGAGGCACCG -3'
(R):5'- CTAGTGTAAAAGGGTGGGCC -3'
Sequencing Primer
(F):5'- GCACCGGCAAAGAATAAAATTTGTTC -3'
(R):5'- GCCAGCCTCACTCACCTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation