Incidental Mutation 'IGL01984:Klhl3'
ID181849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl3
Ensembl Gene ENSMUSG00000014164
Gene Namekelch-like 3
SynonymsEG627648, 7530408C15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01984
Quality Score
Status
Chromosome13
Chromosomal Location58000228-58113592 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 58011243 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091583] [ENSMUST00000160860]
Predicted Effect probably benign
Transcript: ENSMUST00000091583
SMART Domains Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 90,063,230 L24F probably benign Het
Adamts16 T C 13: 70,787,147 D442G probably damaging Het
Ankmy1 T C 1: 92,883,765 T634A probably damaging Het
Anxa3 A T 5: 96,834,771 probably benign Het
Ccnh T C 13: 85,206,151 L202P probably damaging Het
Clcn3 A T 8: 60,929,580 S325T probably damaging Het
Clec2d A T 6: 129,184,229 E96D possibly damaging Het
Csn1s1 A T 5: 87,676,510 probably benign Het
Dcun1d5 T A 9: 7,205,307 Y189N possibly damaging Het
Dnah7a T C 1: 53,702,015 probably null Het
Erg T G 16: 95,409,927 D15A probably damaging Het
Gm11639 T A 11: 104,738,308 D937E probably benign Het
Gm17018 C T 19: 45,577,030 H148Y probably benign Het
Gm21759 T A 5: 8,180,547 probably benign Het
Heatr5b C T 17: 78,796,497 R1083Q possibly damaging Het
Ints3 A G 3: 90,392,226 S1012P possibly damaging Het
Lama4 T A 10: 39,075,529 probably null Het
Magi1 A T 6: 93,708,174 V740D probably damaging Het
Nme8 C A 13: 19,688,980 V165L probably damaging Het
Odf2l G T 3: 145,139,829 E5* probably null Het
Olfr115 T C 17: 37,623,661 probably benign Het
Olfr1297 A G 2: 111,621,582 L164S probably benign Het
Olfr683 A T 7: 105,143,716 D192E probably benign Het
Pcnx4 T C 12: 72,574,409 V1001A probably benign Het
Plaa A G 4: 94,571,685 probably null Het
Prkdc G A 16: 15,708,779 A1305T probably benign Het
Rnps1 T C 17: 24,424,397 probably benign Het
St8sia5 T C 18: 77,248,461 F197L probably benign Het
Sult3a1 G T 10: 33,879,209 G257* probably null Het
Svep1 A C 4: 58,068,877 Y2970D possibly damaging Het
Tns3 G T 11: 8,548,992 Y30* probably null Het
Ubr1 G T 2: 120,921,386 P791T probably damaging Het
Zfp592 T C 7: 81,038,644 V1039A probably benign Het
Other mutations in Klhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Klhl3 APN 13 58009422 critical splice acceptor site probably null
IGL02022:Klhl3 APN 13 58051064 missense possibly damaging 0.95
IGL02543:Klhl3 APN 13 58018871 missense probably damaging 1.00
bearded_dragon UTSW 13 58011152 missense probably benign 0.00
R0975:Klhl3 UTSW 13 58013863 missense possibly damaging 0.81
R1386:Klhl3 UTSW 13 58030433 missense probably damaging 0.99
R1588:Klhl3 UTSW 13 58013898 missense probably damaging 1.00
R1791:Klhl3 UTSW 13 58033230 missense possibly damaging 0.87
R1894:Klhl3 UTSW 13 58009375 missense probably damaging 1.00
R1953:Klhl3 UTSW 13 58011208 missense probably damaging 1.00
R2116:Klhl3 UTSW 13 58018991 missense probably damaging 0.99
R3114:Klhl3 UTSW 13 58051027 critical splice donor site probably null
R4082:Klhl3 UTSW 13 58018797 missense probably null 1.00
R4717:Klhl3 UTSW 13 58030516 missense probably damaging 1.00
R4857:Klhl3 UTSW 13 58018806 missense probably damaging 1.00
R4934:Klhl3 UTSW 13 58102417 nonsense probably null
R5112:Klhl3 UTSW 13 58018889 missense probably damaging 1.00
R5114:Klhl3 UTSW 13 58018967 missense probably benign 0.24
R5547:Klhl3 UTSW 13 58102429 unclassified probably null
R5776:Klhl3 UTSW 13 58005184 missense probably benign 0.00
R6236:Klhl3 UTSW 13 58085062 missense probably damaging 1.00
R6268:Klhl3 UTSW 13 58013842 missense probably damaging 1.00
R6457:Klhl3 UTSW 13 58100378 missense probably benign 0.01
R6559:Klhl3 UTSW 13 58016476 missense probably damaging 1.00
R6580:Klhl3 UTSW 13 58018887 missense possibly damaging 0.75
R6601:Klhl3 UTSW 13 58095116 missense probably damaging 0.96
R6669:Klhl3 UTSW 13 58011152 missense probably benign 0.00
R6904:Klhl3 UTSW 13 58030445 missense probably damaging 1.00
R7652:Klhl3 UTSW 13 58113332 start gained probably benign
Posted On2014-05-07