Incidental Mutation 'R0319:Klhl9'
ID 25531
Institutional Source Beutler Lab
Gene Symbol Klhl9
Ensembl Gene ENSMUSG00000070923
Gene Name kelch-like 9
Synonyms C530050O22Rik
MMRRC Submission 038529-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0319 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 88636529-88640702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88638691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 517 (Y517N)
Ref Sequence ENSEMBL: ENSMUSP00000092602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094993] [ENSMUST00000181601]
AlphaFold Q6ZPT1
Predicted Effect possibly damaging
Transcript: ENSMUST00000094993
AA Change: Y517N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: Y517N

DomainStartEndE-ValueType
BTB 50 149 7.21e-22 SMART
BACK 154 255 3.93e-27 SMART
low complexity region 276 287 N/A INTRINSIC
Kelch 299 347 1.13e-2 SMART
Kelch 348 399 1.92e-5 SMART
Kelch 400 446 1.59e-11 SMART
Kelch 447 493 2.61e-7 SMART
Kelch 494 545 1.58e-6 SMART
Kelch 546 594 1.43e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181601
SMART Domains Protein: ENSMUSP00000137773
Gene: ENSMUSG00000097078

DomainStartEndE-ValueType
low complexity region 121 133 N/A INTRINSIC
Meta Mutation Damage Score 0.1921 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,836,362 (GRCm39) V77G probably benign Het
Abcb1b A G 5: 8,877,428 (GRCm39) R663G probably benign Het
Acly A G 11: 100,395,808 (GRCm39) V404A probably damaging Het
Actg2 T A 6: 83,497,725 (GRCm39) I103F probably damaging Het
Anapc5 A G 5: 122,956,919 (GRCm39) V120A probably damaging Het
Ankk1 T G 9: 49,327,371 (GRCm39) T603P probably damaging Het
Ankmy2 T C 12: 36,215,898 (GRCm39) S33P possibly damaging Het
Arhgef19 A T 4: 140,983,710 (GRCm39) T748S possibly damaging Het
Atad5 T A 11: 80,011,616 (GRCm39) probably benign Het
Atxn10 T C 15: 85,249,483 (GRCm39) L105P probably damaging Het
Cacna1s T C 1: 135,998,455 (GRCm39) V161A probably damaging Het
Col6a3 T C 1: 90,735,426 (GRCm39) E741G possibly damaging Het
Cpne9 G A 6: 113,271,654 (GRCm39) G338E probably damaging Het
Cyp3a13 G A 5: 137,897,124 (GRCm39) P397S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Draxin A G 4: 148,200,429 (GRCm39) L7P probably benign Het
Exosc7 T A 9: 122,960,025 (GRCm39) probably benign Het
Far2 A G 6: 148,058,968 (GRCm39) E218G probably damaging Het
Ggps1 A C 13: 14,228,462 (GRCm39) N240K possibly damaging Het
Kcnip1 T C 11: 33,601,529 (GRCm39) probably benign Het
Kcnv2 A T 19: 27,301,424 (GRCm39) Y425F probably benign Het
Kdelr2 T A 5: 143,398,272 (GRCm39) F40I probably damaging Het
Kdm1b C T 13: 47,207,195 (GRCm39) P173L probably benign Het
Kif20b G A 19: 34,925,132 (GRCm39) probably benign Het
Lgals3bp A G 11: 118,284,347 (GRCm39) S411P probably damaging Het
Lmo3 G A 6: 138,354,309 (GRCm39) T85M probably damaging Het
Lvrn C A 18: 46,997,820 (GRCm39) T256N probably damaging Het
Malt1 T C 18: 65,595,986 (GRCm39) probably null Het
Mgst1 A G 6: 138,133,155 (GRCm39) I157V possibly damaging Het
Mob3a A T 10: 80,525,819 (GRCm39) V164E possibly damaging Het
Mprip T A 11: 59,587,864 (GRCm39) probably benign Het
Mst1 A G 9: 107,959,712 (GRCm39) N276S probably benign Het
Or5an1b A T 19: 12,299,680 (GRCm39) C170* probably null Het
P3h2 T A 16: 25,789,681 (GRCm39) I529F possibly damaging Het
Pikfyve T A 1: 65,285,490 (GRCm39) S865T probably benign Het
Rcbtb2 G A 14: 73,415,909 (GRCm39) R474Q probably benign Het
Rpl27 G A 11: 101,334,321 (GRCm39) probably benign Het
Rtp1 G A 16: 23,250,210 (GRCm39) E192K probably damaging Het
Sgk2 T C 2: 162,837,592 (GRCm39) probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc49a4 T C 16: 35,570,884 (GRCm39) D140G probably benign Het
Spdl1 T C 11: 34,714,347 (GRCm39) N114S possibly damaging Het
Syne2 C T 12: 76,110,936 (GRCm39) R5756W probably damaging Het
Tor1aip1 T C 1: 155,882,927 (GRCm39) E307G probably damaging Het
Tpd52 T C 3: 9,018,749 (GRCm39) T44A probably benign Het
Trim67 A T 8: 125,549,966 (GRCm39) Y532F probably damaging Het
Ttll9 C A 2: 152,842,018 (GRCm39) probably null Het
Ush2a T C 1: 188,680,571 (GRCm39) probably benign Het
Vcam1 T C 3: 115,909,709 (GRCm39) I539M probably benign Het
Vmn1r19 T A 6: 57,381,600 (GRCm39) M51K possibly damaging Het
Vmn2r61 T A 7: 41,949,941 (GRCm39) M787K probably damaging Het
Xdh T A 17: 74,213,096 (GRCm39) probably benign Het
Zfp109 A T 7: 23,933,895 (GRCm39) V8E probably damaging Het
Zfp595 G A 13: 67,464,577 (GRCm39) A562V possibly damaging Het
Zfp759 A G 13: 67,288,356 (GRCm39) T636A probably benign Het
Other mutations in Klhl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Klhl9 APN 4 88,639,056 (GRCm39) missense probably damaging 1.00
IGL00592:Klhl9 APN 4 88,639,378 (GRCm39) missense probably damaging 0.99
IGL01986:Klhl9 APN 4 88,640,016 (GRCm39) missense probably damaging 0.99
IGL02364:Klhl9 APN 4 88,639,407 (GRCm39) missense probably damaging 1.00
IGL02994:Klhl9 APN 4 88,639,434 (GRCm39) nonsense probably null
minnow UTSW 4 88,639,843 (GRCm39) nonsense probably null
R0360:Klhl9 UTSW 4 88,638,527 (GRCm39) missense probably benign 0.05
R0364:Klhl9 UTSW 4 88,638,527 (GRCm39) missense probably benign 0.05
R0693:Klhl9 UTSW 4 88,638,527 (GRCm39) missense probably benign 0.05
R0961:Klhl9 UTSW 4 88,639,974 (GRCm39) missense probably benign 0.16
R1521:Klhl9 UTSW 4 88,640,230 (GRCm39) missense probably benign 0.03
R2891:Klhl9 UTSW 4 88,639,207 (GRCm39) missense probably benign 0.02
R3762:Klhl9 UTSW 4 88,639,830 (GRCm39) missense possibly damaging 0.93
R4584:Klhl9 UTSW 4 88,640,144 (GRCm39) missense probably damaging 1.00
R4678:Klhl9 UTSW 4 88,639,161 (GRCm39) missense probably damaging 1.00
R4888:Klhl9 UTSW 4 88,640,182 (GRCm39) missense probably benign 0.01
R5030:Klhl9 UTSW 4 88,638,771 (GRCm39) missense possibly damaging 0.96
R5082:Klhl9 UTSW 4 88,639,622 (GRCm39) missense probably damaging 0.97
R6466:Klhl9 UTSW 4 88,639,399 (GRCm39) missense probably benign 0.00
R7032:Klhl9 UTSW 4 88,639,843 (GRCm39) nonsense probably null
R7532:Klhl9 UTSW 4 88,639,090 (GRCm39) missense possibly damaging 0.79
R7602:Klhl9 UTSW 4 88,640,646 (GRCm39) start gained probably benign
R7618:Klhl9 UTSW 4 88,638,772 (GRCm39) missense possibly damaging 0.80
R7879:Klhl9 UTSW 4 88,638,575 (GRCm39) missense probably damaging 1.00
R7909:Klhl9 UTSW 4 88,639,238 (GRCm39) missense probably benign 0.12
R8372:Klhl9 UTSW 4 88,639,596 (GRCm39) missense probably damaging 1.00
R8990:Klhl9 UTSW 4 88,640,205 (GRCm39) missense probably benign 0.00
R9024:Klhl9 UTSW 4 88,639,999 (GRCm39) missense probably damaging 1.00
R9619:Klhl9 UTSW 4 88,639,062 (GRCm39) missense probably benign 0.04
X0063:Klhl9 UTSW 4 88,640,188 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGGACAATTTCTACCATGCACCG -3'
(R):5'- ACGTTGCAAAGATGAGTGAACCCC -3'

Sequencing Primer
(F):5'- CCGGTTATTCCAAGAATATCCAC -3'
(R):5'- GATGAGTGAACCCCACTATGGC -3'
Posted On 2013-04-16