Incidental Mutation 'R8270:Klhl3'
| ID |
639464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl3
|
| Ensembl Gene |
ENSMUSG00000014164 |
| Gene Name |
kelch-like 3 |
| Synonyms |
EG627648, 7530408C15Rik |
| MMRRC Submission |
067694-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
58148042-58261406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58260968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 15
(M15K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160860]
|
| AlphaFold |
E0CZ16 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: M15K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
64 |
161 |
9.36e-30 |
SMART |
|
BACK
|
166 |
268 |
7.49e-42 |
SMART |
|
Kelch
|
316 |
361 |
3.31e-9 |
SMART |
|
Kelch
|
362 |
408 |
3.82e-14 |
SMART |
|
Kelch
|
409 |
455 |
1.49e-16 |
SMART |
|
Kelch
|
456 |
504 |
8.58e-17 |
SMART |
|
Kelch
|
505 |
551 |
4.93e-17 |
SMART |
|
Kelch
|
552 |
599 |
4.16e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
| Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
| Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
| Cass4 |
T |
A |
2: 172,269,589 (GRCm39) |
L557Q |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
| Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
| Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
| Dclre1a |
G |
A |
19: 56,533,382 (GRCm39) |
T404I |
possibly damaging |
Het |
| Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
| Fxyd5 |
A |
G |
7: 30,740,854 (GRCm39) |
L10P |
probably damaging |
Het |
| Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,734,050 (GRCm39) |
*310W |
probably null |
Het |
| Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
| Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
| Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
| Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
| Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
| Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
| Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
| Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
| Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
| Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
| Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
| Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
| Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
| Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
probably benign |
Het |
|
| Other mutations in Klhl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01790:Klhl3
|
APN |
13 |
58,157,236 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01984:Klhl3
|
APN |
13 |
58,159,057 (GRCm39) |
splice site |
probably benign |
|
|
IGL02022:Klhl3
|
APN |
13 |
58,198,878 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02543:Klhl3
|
APN |
13 |
58,166,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bearded_dragon
|
UTSW |
13 |
58,158,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Klhl3
|
UTSW |
13 |
58,161,677 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1386:Klhl3
|
UTSW |
13 |
58,178,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1588:Klhl3
|
UTSW |
13 |
58,161,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Klhl3
|
UTSW |
13 |
58,181,044 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1894:Klhl3
|
UTSW |
13 |
58,157,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Klhl3
|
UTSW |
13 |
58,159,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Klhl3
|
UTSW |
13 |
58,166,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3114:Klhl3
|
UTSW |
13 |
58,198,841 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4082:Klhl3
|
UTSW |
13 |
58,166,611 (GRCm39) |
missense |
probably null |
1.00 |
|
R4717:Klhl3
|
UTSW |
13 |
58,178,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Klhl3
|
UTSW |
13 |
58,166,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Klhl3
|
UTSW |
13 |
58,250,231 (GRCm39) |
nonsense |
probably null |
|
|
R5112:Klhl3
|
UTSW |
13 |
58,166,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Klhl3
|
UTSW |
13 |
58,166,781 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5547:Klhl3
|
UTSW |
13 |
58,250,243 (GRCm39) |
splice site |
probably null |
|
|
R5776:Klhl3
|
UTSW |
13 |
58,152,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6236:Klhl3
|
UTSW |
13 |
58,232,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Klhl3
|
UTSW |
13 |
58,161,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6457:Klhl3
|
UTSW |
13 |
58,248,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6559:Klhl3
|
UTSW |
13 |
58,164,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6580:Klhl3
|
UTSW |
13 |
58,166,701 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6601:Klhl3
|
UTSW |
13 |
58,242,930 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6669:Klhl3
|
UTSW |
13 |
58,158,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6904:Klhl3
|
UTSW |
13 |
58,178,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Klhl3
|
UTSW |
13 |
58,261,146 (GRCm39) |
start gained |
probably benign |
|
|
R7979:Klhl3
|
UTSW |
13 |
58,211,611 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8112:Klhl3
|
UTSW |
13 |
58,161,677 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8114:Klhl3
|
UTSW |
13 |
58,161,677 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8409:Klhl3
|
UTSW |
13 |
58,167,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Klhl3
|
UTSW |
13 |
58,159,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Klhl3
|
UTSW |
13 |
58,248,212 (GRCm39) |
missense |
unknown |
|
|
R9396:Klhl3
|
UTSW |
13 |
58,161,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Klhl3
|
UTSW |
13 |
58,167,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Klhl3
|
UTSW |
13 |
58,157,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9636:Klhl3
|
UTSW |
13 |
58,198,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl3
|
UTSW |
13 |
58,157,223 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACTTTTCTGCCCTCGC -3'
(R):5'- GGGTAAGACATTTTCTAGCACCG -3'
Sequencing Primer
(F):5'- CCTCGCTCTGCTTTGGGG -3'
(R):5'- CTTTTGCGGTAGAAGCCTGCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation