Incidental Mutation 'R5547:Klhl3'
| ID |
436358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl3
|
| Ensembl Gene |
ENSMUSG00000014164 |
| Gene Name |
kelch-like 3 |
| Synonyms |
EG627648, 7530408C15Rik |
| MMRRC Submission |
043105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
58148042-58261406 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 58250243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091583]
[ENSMUST00000160860]
|
| AlphaFold |
E0CZ16 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091583
|
| SMART Domains |
Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
103 |
200 |
9.36e-30 |
SMART |
|
BACK
|
205 |
307 |
7.49e-42 |
SMART |
|
Kelch
|
355 |
400 |
3.31e-9 |
SMART |
|
Kelch
|
401 |
447 |
3.82e-14 |
SMART |
|
Kelch
|
448 |
494 |
1.49e-16 |
SMART |
|
Kelch
|
495 |
543 |
8.58e-17 |
SMART |
|
Kelch
|
544 |
590 |
4.93e-17 |
SMART |
|
Kelch
|
591 |
638 |
4.16e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160860
|
| SMART Domains |
Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,661,356 (GRCm39) |
S492P |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,231,201 (GRCm39) |
D1133E |
probably damaging |
Het |
| Avpi1 |
T |
C |
19: 42,113,382 (GRCm39) |
K25R |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,110 (GRCm39) |
S708G |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,794 (GRCm39) |
E202G |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,970 (GRCm39) |
V860E |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,698 (GRCm39) |
V138E |
probably damaging |
Het |
| Cdip1 |
A |
G |
16: 4,587,988 (GRCm39) |
S2P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,428 (GRCm39) |
N702S |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,623,400 (GRCm39) |
I381V |
probably benign |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cryz |
C |
T |
3: 154,317,194 (GRCm39) |
R138* |
probably null |
Het |
| Ctsll3 |
T |
A |
13: 60,948,551 (GRCm39) |
M103L |
probably benign |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Daxx |
CGATGATGATGA |
CGA |
17: 34,131,633 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,469,097 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,948 (GRCm39) |
S505C |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| H2-T15 |
G |
A |
17: 36,368,796 (GRCm39) |
H95Y |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,613,257 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Lekr1 |
T |
A |
3: 65,576,601 (GRCm39) |
|
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,572,675 (GRCm39) |
Q98R |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,879,330 (GRCm39) |
K681E |
possibly damaging |
Het |
| Numa1 |
G |
T |
7: 101,663,137 (GRCm39) |
A735S |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,884,598 (GRCm39) |
L446Q |
probably benign |
Het |
| Or5ac19 |
G |
A |
16: 59,089,479 (GRCm39) |
L184F |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,909 (GRCm39) |
E1735K |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,729,488 (GRCm39) |
D119G |
probably benign |
Het |
| Pgpep1 |
T |
C |
8: 71,105,069 (GRCm39) |
K64E |
probably benign |
Het |
| Prr19 |
A |
C |
7: 25,003,388 (GRCm39) |
D334A |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,557,221 (GRCm39) |
S691* |
probably null |
Het |
| Recql4 |
G |
A |
15: 76,589,994 (GRCm39) |
R684* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,302 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tdo2 |
T |
C |
3: 81,866,247 (GRCm39) |
R339G |
probably damaging |
Het |
| Tmem245 |
C |
T |
4: 56,910,156 (GRCm39) |
|
probably null |
Het |
| Trim24 |
A |
G |
6: 37,942,485 (GRCm39) |
E965G |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,156 (GRCm39) |
S103P |
probably damaging |
Het |
| Trpv6 |
A |
T |
6: 41,613,088 (GRCm39) |
V26D |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,688,844 (GRCm39) |
C455R |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,873 (GRCm39) |
I209T |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,406 (GRCm39) |
N131S |
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 |
|
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 |
|
R8270:Klhl3
|
UTSW |
13 |
58,260,968 (GRCm39) |
missense |
|
|
|
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'- TGTGTCCAGGGGCTGTCC -3'
(R):5'- TCATGAGAGGGACAGTCATGTTTAT -3'
Sequencing Primer
(F):5'- TCTTGCCAACACGGGATATG -3'
(R):5'- AACTTGCTCTGTATGTAGACCAGGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation