Incidental Mutation 'R9532:Klhl20'
| ID |
719505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl20
|
| Ensembl Gene |
ENSMUSG00000026705 |
| Gene Name |
kelch-like 20 |
| Synonyms |
D930050H05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R9532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160937329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 15
(D15E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111611]
[ENSMUST00000117467]
|
| AlphaFold |
Q8VCK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111611
AA Change: D15E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
AA Change: D15E
| 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: D15E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
AA Change: D15E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,397 (GRCm39) |
N165S |
unknown |
Het |
| 9530002B09Rik |
C |
A |
4: 122,596,133 (GRCm39) |
N121K |
unknown |
Het |
| Abca1 |
A |
T |
4: 53,109,284 (GRCm39) |
N141K |
probably benign |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,371 (GRCm39) |
N57S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,338,246 (GRCm39) |
W1709R |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,687,042 (GRCm39) |
E117G |
probably damaging |
Het |
| D17H6S53E |
T |
A |
17: 35,346,145 (GRCm39) |
S19T |
possibly damaging |
Het |
| Dab2 |
G |
T |
15: 6,451,762 (GRCm39) |
R126L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,916 (GRCm39) |
D31G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,228,260 (GRCm39) |
L1678* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,212 (GRCm39) |
V628A |
probably damaging |
Het |
| Fgf8 |
A |
T |
19: 45,725,679 (GRCm39) |
V186E |
probably damaging |
Het |
| Fmnl2 |
A |
T |
2: 53,006,941 (GRCm39) |
Y751F |
unknown |
Het |
| Frmpd1 |
A |
T |
4: 45,278,886 (GRCm39) |
E537V |
|
Het |
| Garin3 |
A |
G |
11: 46,297,673 (GRCm39) |
T326A |
|
Het |
| Grin1 |
C |
T |
2: 25,187,909 (GRCm39) |
G529D |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,429,306 (GRCm39) |
T872I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,502,616 (GRCm39) |
I4240T |
probably benign |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,473,398 (GRCm39) |
Q6L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,897,229 (GRCm39) |
D1112E |
possibly damaging |
Het |
| Ighv1-82 |
T |
G |
12: 115,916,158 (GRCm39) |
R117S |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,389,935 (GRCm39) |
A748V |
|
Het |
| Kcnd2 |
G |
T |
6: 21,727,180 (GRCm39) |
A578S |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,161,565 (GRCm39) |
V315A |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,024 (GRCm39) |
I96F |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,522,168 (GRCm39) |
T143A |
probably benign |
Het |
| Nup93 |
G |
A |
8: 95,041,249 (GRCm39) |
A796T |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,628,475 (GRCm39) |
V513A |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,746 (GRCm39) |
V100A |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,275 (GRCm39) |
H274L |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,008,206 (GRCm39) |
V119A |
possibly damaging |
Het |
| Pkmyt1 |
T |
C |
17: 23,954,691 (GRCm39) |
I427T |
probably benign |
Het |
| Polr1g |
A |
T |
7: 19,091,817 (GRCm39) |
S97T |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,629,866 (GRCm39) |
D222G |
probably null |
Het |
| Prickle2 |
A |
T |
6: 92,683,096 (GRCm39) |
S11T |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,385,608 (GRCm39) |
A930T |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,597,106 (GRCm39) |
H147Q |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,099,794 (GRCm39) |
D1766V |
probably benign |
Het |
| Qrich1 |
C |
T |
9: 108,411,519 (GRCm39) |
T348M |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,041,933 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,333 (GRCm39) |
V352A |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,385,970 (GRCm39) |
Q601R |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,507,078 (GRCm39) |
|
probably null |
Het |
| Washc4 |
A |
G |
10: 83,417,258 (GRCm39) |
|
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,342,541 (GRCm39) |
M191K |
possibly damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,894 (GRCm39) |
N624S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTAGCGCCCACAACTAGC -3'
(R):5'- TTTGGACATGGAGCCAGAATTC -3'
Sequencing Primer
(F):5'- TAGCACCACATCACATAGCTC -3'
(R):5'- GAAATTTCCATCCCTGTAAGTCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation