Incidental Mutation 'R9024:Klhl9'
ID 686411
Institutional Source Beutler Lab
Gene Symbol Klhl9
Ensembl Gene ENSMUSG00000070923
Gene Name kelch-like 9
Synonyms C530050O22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9024 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 88636529-88640702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88639999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 81 (F81I)
Ref Sequence ENSEMBL: ENSMUSP00000092602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094993] [ENSMUST00000181601]
AlphaFold Q6ZPT1
Predicted Effect probably damaging
Transcript: ENSMUST00000094993
AA Change: F81I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: F81I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik C A 3: 137,891,923 (GRCm39) A16S unknown Het
Aldh3b1 T A 19: 3,968,155 (GRCm39) I335F probably damaging Het
Asph A T 4: 9,475,025 (GRCm39) Y650N probably damaging Het
Atr T C 9: 95,789,416 (GRCm39) V1524A possibly damaging Het
Ccin A G 4: 43,983,562 (GRCm39) probably benign Het
Cdk15 A T 1: 59,326,957 (GRCm39) I213F probably damaging Het
Chfr G T 5: 110,306,698 (GRCm39) S481I probably benign Het
Coro2a T C 4: 46,542,323 (GRCm39) D350G probably benign Het
Ctps1 C A 4: 120,406,707 (GRCm39) E350* probably null Het
Dctn4 G A 18: 60,678,894 (GRCm39) probably null Het
Epha4 C A 1: 77,365,169 (GRCm39) R610L possibly damaging Het
Esp4 A T 17: 40,911,102 (GRCm39) M1L unknown Het
Fads3 T C 19: 10,033,839 (GRCm39) V408A probably damaging Het
Gm19402 T A 10: 77,525,805 (GRCm39) K263* probably null Het
Gm26657 G T 4: 56,740,769 (GRCm39) probably benign Het
Hsdl1 A G 8: 120,290,839 (GRCm39) V311A probably benign Het
Hsp90b1 A G 10: 86,541,174 (GRCm39) F16L possibly damaging Het
Icmt T C 4: 152,385,161 (GRCm39) C208R probably damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ipo7 T A 7: 109,643,943 (GRCm39) probably null Het
Kif21a T A 15: 90,821,399 (GRCm39) K1465* probably null Het
Kynu A G 2: 43,490,807 (GRCm39) H170R possibly damaging Het
Mmp12 A G 9: 7,355,444 (GRCm39) Y397C probably damaging Het
Mpped2 T C 2: 106,614,043 (GRCm39) F126L probably benign Het
Muc2 C T 7: 141,287,936 (GRCm39) P236S probably damaging Het
Myo10 A G 15: 25,793,295 (GRCm39) T1291A possibly damaging Het
Myom2 T C 8: 15,113,936 (GRCm39) L28P probably damaging Het
Nfatc2 T C 2: 168,328,648 (GRCm39) *924W probably null Het
Nrip1 G T 16: 76,088,388 (GRCm39) Y1056* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Oxr1 A G 15: 41,694,518 (GRCm39) Y20C probably damaging Het
P2ry2 T C 7: 100,647,229 (GRCm39) T359A probably damaging Het
Paxbp1 G A 16: 90,840,963 (GRCm39) R94C possibly damaging Het
Pbrm1 A G 14: 30,783,623 (GRCm39) Y569C probably damaging Het
Pkhd1 T C 1: 20,592,975 (GRCm39) T1713A probably benign Het
Plekha5 A G 6: 140,370,176 (GRCm39) S56G probably benign Het
Plekhg5 T C 4: 152,197,118 (GRCm39) I801T possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pogz A T 3: 94,785,543 (GRCm39) N833Y probably damaging Het
Polk G T 13: 96,623,340 (GRCm39) H501N probably benign Het
Ptprd T C 4: 75,874,567 (GRCm39) N1043S probably damaging Het
Rad18 A T 6: 112,626,562 (GRCm39) C448S probably benign Het
Rhof T A 5: 123,269,963 (GRCm39) K65* probably null Het
Rpa2 T C 4: 132,499,153 (GRCm39) V74A probably damaging Het
Smarcc1 T C 9: 110,015,001 (GRCm39) M522T probably damaging Het
Snai2 T C 16: 14,524,769 (GRCm39) S92P probably benign Het
Srrt C A 5: 137,301,291 (GRCm39) R45L unknown Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tubd1 T G 11: 86,445,991 (GRCm39) H210Q possibly damaging Het
Usp36 T C 11: 118,166,983 (GRCm39) N298S possibly damaging Het
Vmn2r63 T G 7: 42,577,874 (GRCm39) R221S probably benign Het
Vps13b A G 15: 35,923,470 (GRCm39) I3782V probably damaging Het
Zfp184 T A 13: 22,143,128 (GRCm39) I278N probably damaging 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
R0319:Klhl9 UTSW 4 88,638,691 (GRCm39) missense possibly damaging 0.91
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
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'- CAGTTATCCAAAGAGACGCCTG -3'
(R):5'- CCTTGCAAGTCTGGAACTACG -3'

Sequencing Primer
(F):5'- TATCCAAAGAGACGCCTGATATAAG -3'
(R):5'- TAGAGGGCCTACTTTGTG -3'
Posted On 2021-10-11