Incidental Mutation 'R9396:Klhl3'
| ID |
710852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl3
|
| Ensembl Gene |
ENSMUSG00000014164 |
| Gene Name |
kelch-like 3 |
| Synonyms |
EG627648, 7530408C15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
58148042-58261406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58161662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 531
(T531P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091583]
[ENSMUST00000160860]
|
| AlphaFold |
E0CZ16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091583
AA Change: T531P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: T531P
| 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: T478P
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: T478P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
A |
17: 85,000,282 (GRCm39) |
F281I |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,887,041 (GRCm39) |
M402T |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Apol7a |
T |
C |
15: 77,273,925 (GRCm39) |
E179G |
possibly damaging |
Het |
| Asmt |
A |
G |
X: 169,110,141 (GRCm39) |
T217A |
probably benign |
Het |
| Cadm2 |
T |
C |
16: 66,544,102 (GRCm39) |
Y318C |
probably damaging |
Het |
| Cckar |
G |
A |
5: 53,864,623 (GRCm39) |
T26M |
probably damaging |
Het |
| Cd300ld |
G |
A |
11: 114,878,230 (GRCm39) |
T94I |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,903 (GRCm39) |
Y1390H |
possibly damaging |
Het |
| Cdk5rap2 |
C |
T |
4: 70,182,895 (GRCm39) |
S1268N |
probably damaging |
Het |
| Csrnp3 |
C |
T |
2: 65,832,841 (GRCm39) |
R127C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,174,773 (GRCm39) |
R501* |
probably null |
Het |
| Dusp2 |
C |
T |
2: 127,179,638 (GRCm39) |
R294C |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,261,838 (GRCm39) |
K878E |
possibly damaging |
Het |
| Evc |
T |
C |
5: 37,476,434 (GRCm39) |
T372A |
possibly damaging |
Het |
| Fcgr1 |
T |
A |
3: 96,194,390 (GRCm39) |
K166* |
probably null |
Het |
| Fstl4 |
C |
A |
11: 52,664,778 (GRCm39) |
P36Q |
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,313,659 (GRCm39) |
I551N |
probably benign |
Het |
| Hc |
G |
T |
2: 34,927,615 (GRCm39) |
S333* |
probably null |
Het |
| Ibsp |
A |
G |
5: 104,458,297 (GRCm39) |
Y278C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,240,937 (GRCm39) |
S210P |
possibly damaging |
Het |
| Mapt |
C |
A |
11: 104,189,555 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Myh9 |
T |
C |
15: 77,647,496 (GRCm39) |
T1840A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,923,294 (GRCm39) |
C1320S |
probably damaging |
Het |
| Myom3 |
G |
T |
4: 135,513,199 (GRCm39) |
V626L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,399,749 (GRCm39) |
M291K |
probably damaging |
Het |
| Nubp2 |
C |
T |
17: 25,103,476 (GRCm39) |
V134I |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,337,917 (GRCm39) |
I287V |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,089 (GRCm39) |
M198K |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,421 (GRCm39) |
W149R |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,864 (GRCm39) |
L213P |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,720 (GRCm39) |
N239S |
probably benign |
Het |
| Or55b4 |
A |
C |
7: 102,134,180 (GRCm39) |
V49G |
possibly damaging |
Het |
| Or5k3 |
G |
A |
16: 58,969,302 (GRCm39) |
V30M |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,845 (GRCm39) |
C257S |
probably benign |
Het |
| Pals1 |
G |
T |
12: 78,871,521 (GRCm39) |
R367L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,571 (GRCm39) |
E863G |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,091 (GRCm39) |
T257M |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,377,188 (GRCm39) |
I334V |
probably benign |
Het |
| Rnf180 |
T |
A |
13: 105,318,027 (GRCm39) |
K462* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,008,445 (GRCm39) |
D455G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,694,463 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,915 (GRCm39) |
T426A |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,463,358 (GRCm39) |
K70R |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,807,303 (GRCm39) |
V182A |
unknown |
Het |
| Stim1 |
G |
A |
7: 102,064,592 (GRCm39) |
V221I |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,609,432 (GRCm39) |
D201G |
probably damaging |
Het |
| Tcf25 |
A |
G |
8: 124,127,831 (GRCm39) |
E630G |
probably benign |
Het |
| Tm7sf3 |
T |
C |
6: 146,523,472 (GRCm39) |
N135S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,429 (GRCm39) |
N560S |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,966,529 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
A |
C |
9: 122,681,581 (GRCm39) |
S787A |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,449,260 (GRCm39) |
W22R |
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 |
|
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 |
|
|
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'- TAGCCAGGTTACTTACAACTGG -3'
(R):5'- GGTCCTTCTGGATGATTGAGAC -3'
Sequencing Primer
(F):5'- CCAGGTTACTTACAACTGGAGGAG -3'
(R):5'- TACCTCTGTGGGTTAAAAATGGAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation