Incidental Mutation 'IGL02543:Klhl3'
ID 298280
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) question?
Stock # IGL02543
Quality Score
Status
Chromosome 13
Chromosomal Location 58148042-58261406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58166685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 435 (E435G)
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: E435G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: E435G

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 noncoding transcript
Transcript: ENSMUST00000104769
Predicted Effect probably benign
Transcript: ENSMUST00000160860
AA Change: E382G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: E382G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G T 19: 31,895,495 (GRCm39) A193S probably damaging Het
Adcy4 T C 14: 56,006,627 (GRCm39) T1069A probably benign Het
Arg2 A T 12: 79,197,533 (GRCm39) I184F probably benign Het
Asb18 G A 1: 89,942,113 (GRCm39) P63S probably damaging Het
Cep85 T C 4: 133,883,634 (GRCm39) H85R possibly damaging Het
Chfr A G 5: 110,291,413 (GRCm39) probably null Het
Cog2 A G 8: 125,256,698 (GRCm39) N148S probably benign Het
Csgalnact1 T C 8: 68,913,720 (GRCm39) T162A probably damaging Het
Ddi1 C T 9: 6,266,183 (GRCm39) G62D possibly damaging Het
Dhx33 T C 11: 70,878,066 (GRCm39) Y435C probably damaging Het
Dsc3 A T 18: 20,098,885 (GRCm39) C765S probably benign Het
Egfem1 T A 3: 29,722,529 (GRCm39) D362E probably benign Het
Gm28040 A T 1: 133,247,069 (GRCm39) I26F possibly damaging Het
Gm28778 T C 1: 53,338,202 (GRCm39) M22T probably benign Het
Hdac1-ps A G 17: 78,799,303 (GRCm39) E98G probably damaging Het
Hipk2 A G 6: 38,680,436 (GRCm39) I968T possibly damaging Het
Hlx T G 1: 184,462,948 (GRCm39) S235R probably damaging Het
Jag1 T C 2: 136,933,867 (GRCm39) probably benign Het
Kdr A G 5: 76,125,607 (GRCm39) probably benign Het
L3mbtl4 T C 17: 68,768,607 (GRCm39) probably benign Het
Large1 T A 8: 73,775,042 (GRCm39) M223L probably benign Het
Lrp1b T C 2: 40,760,413 (GRCm39) K2838E possibly damaging Het
Ncan T C 8: 70,561,221 (GRCm39) D582G probably benign Het
Nedd9 T C 13: 41,470,211 (GRCm39) D314G probably damaging Het
Nip7 T C 8: 107,784,825 (GRCm39) probably benign Het
Or10j27 T G 1: 172,957,901 (GRCm39) K294N probably damaging Het
Or52ae9 A T 7: 103,389,710 (GRCm39) C246S possibly damaging Het
Or7a42 C A 10: 78,791,773 (GRCm39) H245N probably damaging Het
P3h1 T C 4: 119,095,053 (GRCm39) probably benign Het
Pcp4l1 C T 1: 171,003,133 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,330 (GRCm39) G118D probably benign Het
Prkg1 T C 19: 30,602,134 (GRCm39) D374G possibly damaging Het
Ptcd1 A G 5: 145,091,497 (GRCm39) L534P possibly damaging Het
Rnf123 A G 9: 107,943,547 (GRCm39) S563P probably damaging Het
Scart1 A G 7: 139,800,491 (GRCm39) M91V probably benign Het
Sdk2 A T 11: 113,759,747 (GRCm39) I418N possibly damaging Het
Slc26a4 A G 12: 31,578,688 (GRCm39) I655T possibly damaging Het
Syne1 T C 10: 4,993,618 (GRCm39) K524R probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tbc1d22a C T 15: 86,123,372 (GRCm39) A135V probably benign Het
Tenm3 A C 8: 48,751,991 (GRCm39) W942G probably damaging Het
Thsd7b G A 1: 130,092,840 (GRCm39) V1247I probably benign Het
Treml1 A G 17: 48,667,459 (GRCm39) T115A possibly damaging Het
Ttn T C 2: 76,540,306 (GRCm39) T34227A probably benign Het
Ugt2b38 T A 5: 87,571,342 (GRCm39) D230V probably benign Het
Vmn1r203 G A 13: 22,709,074 (GRCm39) G285D probably damaging Het
Vmn2r76 A G 7: 85,879,356 (GRCm39) S315P probably benign Het
Vmn2r98 T G 17: 19,286,083 (GRCm39) S194A probably benign Het
Wdr1 G A 5: 38,703,165 (GRCm39) S137F probably damaging Het
Wnt7b C T 15: 85,443,097 (GRCm39) probably benign Het
Zfp668 A T 7: 127,467,494 (GRCm39) C27* probably null Het
Other mutations in Klhl3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16