Incidental Mutation 'R5216:Klhl20'
| ID |
403461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl20
|
| Ensembl Gene |
ENSMUSG00000026705 |
| Gene Name |
kelch-like 20 |
| Synonyms |
D930050H05Rik |
| MMRRC Submission |
042789-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R5216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160915945-160959078 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 160921249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111611]
[ENSMUST00000117467]
[ENSMUST00000195584]
|
| AlphaFold |
Q8VCK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111611
|
| SMART Domains |
Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705
| 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 |
probably benign
Transcript: ENSMUST00000195584
|
| SMART Domains |
Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
1 |
40 |
1.43e-4 |
SMART |
|
Kelch
|
41 |
87 |
1.59e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,107,947 (GRCm39) |
V84D |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,863,705 (GRCm39) |
V220A |
probably benign |
Het |
| Actg1 |
A |
T |
11: 120,238,580 (GRCm39) |
M82K |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,975 (GRCm39) |
S103P |
probably benign |
Het |
| Aldh1b1 |
G |
T |
4: 45,803,652 (GRCm39) |
G397C |
probably damaging |
Het |
| Arhgef3 |
A |
G |
14: 27,123,799 (GRCm39) |
T507A |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,701,910 (GRCm39) |
D682G |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,159,102 (GRCm39) |
I783T |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,516,808 (GRCm39) |
I362V |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,920,465 (GRCm39) |
I168K |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,445 (GRCm39) |
Y2070N |
probably damaging |
Het |
| Cabp7 |
A |
G |
11: 4,688,873 (GRCm39) |
I199T |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,315 (GRCm39) |
F231L |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,415,729 (GRCm39) |
V413D |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,021,071 (GRCm39) |
E481K |
possibly damaging |
Het |
| Cspg4b |
G |
A |
13: 113,478,947 (GRCm39) |
C1497Y |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,644,665 (GRCm39) |
I560N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,833 (GRCm39) |
D230G |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,018,986 (GRCm39) |
|
probably null |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,695 (GRCm39) |
N317Y |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,346,757 (GRCm39) |
S623P |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,549,755 (GRCm39) |
S640L |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mgll |
T |
A |
6: 88,743,311 (GRCm39) |
C110* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,675,120 (GRCm39) |
N251D |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,262 (GRCm39) |
S230T |
probably damaging |
Het |
| Or52k2 |
A |
G |
7: 102,254,028 (GRCm39) |
T156A |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Pfkl |
T |
G |
10: 77,845,504 (GRCm39) |
D5A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,406,029 (GRCm39) |
Y9C |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,359,043 (GRCm39) |
Y417* |
probably null |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,867,098 (GRCm39) |
M94K |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,873,022 (GRCm39) |
T157A |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,118 (GRCm39) |
N102S |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,661,149 (GRCm39) |
R101H |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,070,048 (GRCm39) |
D421G |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,090 (GRCm39) |
D57G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,868,661 (GRCm39) |
L43P |
possibly damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,977 (GRCm39) |
D56N |
probably damaging |
Het |
| Zfp184 |
C |
T |
13: 22,134,406 (GRCm39) |
L69F |
probably damaging |
Het |
| Zyx |
T |
C |
6: 42,333,466 (GRCm39) |
V464A |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCCAGCAGGATATGACG -3'
(R):5'- CCTAGAGACTGTGAATTCCCC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- TGTGAATTCCCCGCGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation