Incidental Mutation 'IGL02022:Klhl3'
| ID |
184010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl3
|
| Ensembl Gene |
ENSMUSG00000014164 |
| Gene Name |
kelch-like 3 |
| Synonyms |
EG627648, 7530408C15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
58148042-58261406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58198878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 201
(S201T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091583]
[ENSMUST00000160860]
|
| AlphaFold |
E0CZ16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091583
AA Change: S254T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: S254T
| 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 |
possibly damaging
Transcript: ENSMUST00000160860
AA Change: S201T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: S201T
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,120,358 (GRCm39) |
Y160C |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,412,999 (GRCm39) |
S314P |
probably damaging |
Het |
| Abra |
T |
C |
15: 41,732,802 (GRCm39) |
H88R |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,987,617 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,251,886 (GRCm39) |
C123G |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,547,171 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
G |
T |
8: 40,952,386 (GRCm39) |
P190T |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,212,031 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,407,220 (GRCm39) |
T424A |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Efhd1 |
G |
A |
1: 87,192,334 (GRCm39) |
E55K |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,495,638 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,953 (GRCm39) |
F219S |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,172 (GRCm39) |
D751N |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,629 (GRCm39) |
C1848* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,284,842 (GRCm39) |
|
probably null |
Het |
| Med10 |
T |
C |
13: 69,961,819 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,592,593 (GRCm39) |
T170S |
probably damaging |
Het |
| Or52n3 |
T |
C |
7: 104,530,141 (GRCm39) |
C76R |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,297,153 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,367,963 (GRCm39) |
V1595I |
probably benign |
Het |
| Prpf8 |
C |
T |
11: 75,392,660 (GRCm39) |
R1617* |
probably null |
Het |
| Rabep1 |
T |
A |
11: 70,825,385 (GRCm39) |
L684Q |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,874,435 (GRCm39) |
|
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,037 (GRCm39) |
F153S |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,939,062 (GRCm39) |
|
probably null |
Het |
| Unc80 |
G |
T |
1: 66,665,675 (GRCm39) |
R1814L |
possibly damaging |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,987 (GRCm39) |
D179N |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,236,126 (GRCm39) |
E1199G |
probably benign |
Het |
| Zic1 |
C |
A |
9: 91,244,525 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation