Incidental Mutation 'R6236:Klhl3'
ID |
504956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl3
|
Ensembl Gene |
ENSMUSG00000014164 |
Gene Name |
kelch-like 3 |
Synonyms |
EG627648, 7530408C15Rik |
MMRRC Submission |
044400-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
58148042-58261406 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58232876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 77
(A77V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091583]
[ENSMUST00000160860]
|
AlphaFold |
E0CZ16 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091583
AA Change: A130V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089173 Gene: ENSMUSG00000014164 AA Change: A130V
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 damaging
Transcript: ENSMUST00000160860
AA Change: A77V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123701 Gene: ENSMUSG00000014164 AA Change: A77V
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 |
|
Meta Mutation Damage Score |
0.7352 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (57/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
A |
G |
4: 155,989,664 (GRCm39) |
T703A |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,427,127 (GRCm39) |
A49T |
probably benign |
Het |
Acer1 |
T |
A |
17: 57,262,231 (GRCm39) |
I224F |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,367,678 (GRCm39) |
D161G |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,948,887 (GRCm39) |
I111V |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,385 (GRCm39) |
|
probably null |
Het |
Chst14 |
T |
A |
2: 118,757,997 (GRCm39) |
C264S |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,542 (GRCm39) |
T339A |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,045,608 (GRCm39) |
K201R |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,319,030 (GRCm39) |
V1020A |
probably damaging |
Het |
Cts6 |
C |
A |
13: 61,344,192 (GRCm39) |
E287* |
probably null |
Het |
Dbf4 |
T |
C |
5: 8,448,579 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
G |
A |
14: 87,275,004 (GRCm39) |
R140* |
probably null |
Het |
Faah |
T |
C |
4: 115,856,786 (GRCm39) |
I459V |
probably benign |
Het |
Fbxw2 |
A |
T |
2: 34,712,845 (GRCm39) |
L72H |
probably damaging |
Het |
Fstl4 |
G |
A |
11: 53,077,162 (GRCm39) |
G640S |
probably benign |
Het |
Gabrb1 |
C |
T |
5: 72,265,663 (GRCm39) |
T186M |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,179,548 (GRCm39) |
|
probably null |
Het |
Ifi203 |
A |
G |
1: 173,761,479 (GRCm39) |
V190A |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,588,641 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
A |
T |
5: 150,876,755 (GRCm39) |
T192S |
probably damaging |
Het |
Klri2 |
A |
G |
6: 129,715,858 (GRCm39) |
F114L |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,363,215 (GRCm39) |
R278* |
probably null |
Het |
Lrp5 |
A |
T |
19: 3,680,483 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
A |
11: 86,219,357 (GRCm39) |
H363L |
probably damaging |
Het |
Metap1d |
T |
G |
2: 71,346,022 (GRCm39) |
F194L |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,956 (GRCm39) |
K458E |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,081,157 (GRCm39) |
T1258A |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,354,064 (GRCm39) |
D1691V |
possibly damaging |
Het |
Nr1i2 |
C |
T |
16: 38,086,300 (GRCm39) |
C55Y |
probably damaging |
Het |
Or11h7 |
T |
C |
14: 50,891,257 (GRCm39) |
S188P |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,409 (GRCm39) |
I50F |
possibly damaging |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,345 (GRCm39) |
Y247H |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Ric1 |
T |
A |
19: 29,572,826 (GRCm39) |
D755E |
possibly damaging |
Het |
Sez6l |
G |
T |
5: 112,623,110 (GRCm39) |
T147K |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,244,001 (GRCm39) |
F451S |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,022,158 (GRCm39) |
T300I |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,673,613 (GRCm39) |
V1050A |
probably benign |
Het |
Spag1 |
T |
C |
15: 36,211,281 (GRCm39) |
S476P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,798,166 (GRCm39) |
S1964T |
probably benign |
Het |
Sucla2 |
T |
A |
14: 73,831,190 (GRCm39) |
D434E |
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,919,717 (GRCm39) |
T779I |
probably benign |
Het |
Tlr2 |
T |
A |
3: 83,745,438 (GRCm39) |
E215V |
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,437,281 (GRCm39) |
P227S |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,016,477 (GRCm39) |
S711T |
probably benign |
Het |
Traj32 |
T |
A |
14: 54,423,565 (GRCm39) |
Y2* |
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,525 (GRCm39) |
R387G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,795,441 (GRCm39) |
T651A |
probably benign |
Het |
Vmn1r188 |
T |
C |
13: 22,272,414 (GRCm39) |
S123P |
probably damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,543,918 (GRCm39) |
L66P |
probably damaging |
Het |
Zfp712 |
C |
T |
13: 67,188,685 (GRCm39) |
C614Y |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,797,105 (GRCm39) |
K397R |
probably damaging |
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 |
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'- TAGTCCCTGTGGGTGTCAAG -3'
(R):5'- CTTTGCCTCTATGCCAGTAGTG -3'
Sequencing Primer
(F):5'- TGGGTGTCAAGAATCAGTCCC -3'
(R):5'- CCTCTATGCCAGTAGTGTGTGATC -3'
|
Posted On |
2018-02-28 |