Incidental Mutation 'R6669:Klhl3'
ID 528068
Institutional Source Beutler Lab
Gene Symbol Klhl3
Ensembl Gene ENSMUSG00000014164
Gene Name kelch-like 3
Synonyms EG627648, 7530408C15Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 58148042-58261406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58158966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 564 (D564E)
Ref Sequence ENSEMBL: ENSMUSP00000089173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091583] [ENSMUST00000160860]
AlphaFold E0CZ16
Predicted Effect probably benign
Transcript: ENSMUST00000091583
AA Change: D564E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000089173
Gene: ENSMUSG00000014164
AA Change: D564E

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
AA Change: D511E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123701
Gene: ENSMUSG00000014164
AA Change: D511E

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
Meta Mutation Damage Score 0.1442 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging 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
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
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'- CGCCACTCTTATGTTCAGGAC -3'
(R):5'- GAACCTCCTTATTTGCAGGCTG -3'

Sequencing Primer
(F):5'- CACTCTTATGTTCAGGACACAGGG -3'
(R):5'- TTTACAGATTAGGGCAATGAGGTCC -3'
Posted On 2018-07-24