Incidental Mutation 'IGL02364:Klhl9'
ID290650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl9
Ensembl Gene ENSMUSG00000070923
Gene Namekelch-like 9
SynonymsC530050O22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02364
Quality Score
Status
Chromosome4
Chromosomal Location88718292-88722465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88721170 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 278 (M278T)
Ref Sequence ENSEMBL: ENSMUSP00000092602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094993] [ENSMUST00000181601]
Predicted Effect probably damaging
Transcript: ENSMUST00000094993
AA Change: M278T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092602
Gene: ENSMUSG00000070923
AA Change: M278T

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,082,300 D47E probably damaging Het
Bdp1 A T 13: 100,055,308 probably benign Het
Car8 T C 4: 8,183,321 I225V probably benign Het
Cc2d2a T A 5: 43,735,450 N1390K probably damaging Het
Coasy T C 11: 101,084,358 V247A possibly damaging Het
Dgkq A G 5: 108,656,444 V50A probably benign Het
Dixdc1 A T 9: 50,682,631 probably benign Het
Dmxl2 G A 9: 54,393,843 A2328V probably benign Het
Exoc3l C A 8: 105,290,577 V593L possibly damaging Het
Eya3 T C 4: 132,710,055 S409P probably damaging Het
Fam71a T C 1: 191,163,516 N310S probably benign Het
Gbp4 A T 5: 105,136,874 S50T probably damaging Het
Gm5885 A G 6: 133,530,129 noncoding transcript Het
Hypm G T X: 9,847,390 probably benign Het
Igkv12-89 A T 6: 68,834,986 Y66* probably null Het
Itgax G A 7: 128,139,982 V601M possibly damaging Het
Kank3 T C 17: 33,818,850 V291A probably benign Het
Lrrc43 G A 5: 123,501,212 D435N possibly damaging Het
Ly75 A T 2: 60,358,507 S292T probably damaging Het
Mchr1 G A 15: 81,237,279 V77I probably benign Het
Mga T A 2: 119,964,054 C2622S possibly damaging Het
Neb G T 2: 52,296,254 Y935* probably null Het
Phf20 A G 2: 156,294,097 E612G possibly damaging Het
Pkhd1 A G 1: 20,200,783 L3182P probably benign Het
Rnf130 T C 11: 50,095,840 V337A probably benign Het
Slfn10-ps T C 11: 83,032,291 noncoding transcript Het
Sorcs1 G A 19: 50,333,598 P249L probably damaging Het
Spata13 C T 14: 60,691,274 R94C probably damaging Het
Stk38 C T 17: 28,991,416 R63Q probably benign Het
Tmem220 C A 11: 67,034,188 H174N probably benign Het
Tmem68 C A 4: 3,560,536 R216L probably damaging Het
Trim29 G A 9: 43,311,302 V143M probably benign Het
Ubqln2 T C X: 153,499,910 L486P possibly damaging Het
Usp17le G A 7: 104,768,775 Q387* probably null Het
Vps33b A G 7: 80,287,839 E445G probably damaging Het
Other mutations in Klhl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Klhl9 APN 4 88720819 missense probably damaging 1.00
IGL00592:Klhl9 APN 4 88721141 missense probably damaging 0.99
IGL01986:Klhl9 APN 4 88721779 missense probably damaging 0.99
IGL02994:Klhl9 APN 4 88721197 nonsense probably null
minnow UTSW 4 88721606 nonsense probably null
R0319:Klhl9 UTSW 4 88720454 missense possibly damaging 0.91
R0360:Klhl9 UTSW 4 88720290 missense probably benign 0.05
R0364:Klhl9 UTSW 4 88720290 missense probably benign 0.05
R0693:Klhl9 UTSW 4 88720290 missense probably benign 0.05
R0961:Klhl9 UTSW 4 88721737 missense probably benign 0.16
R1521:Klhl9 UTSW 4 88721993 missense probably benign 0.03
R2891:Klhl9 UTSW 4 88720970 missense probably benign 0.02
R3762:Klhl9 UTSW 4 88721593 missense possibly damaging 0.93
R4584:Klhl9 UTSW 4 88721907 missense probably damaging 1.00
R4678:Klhl9 UTSW 4 88720924 missense probably damaging 1.00
R4888:Klhl9 UTSW 4 88721945 missense probably benign 0.01
R5030:Klhl9 UTSW 4 88720534 missense possibly damaging 0.96
R5082:Klhl9 UTSW 4 88721385 missense probably damaging 0.97
R6466:Klhl9 UTSW 4 88721162 missense probably benign 0.00
R7032:Klhl9 UTSW 4 88721606 nonsense probably null
R7532:Klhl9 UTSW 4 88720853 missense possibly damaging 0.79
R7602:Klhl9 UTSW 4 88722409 start gained probably benign
R7618:Klhl9 UTSW 4 88720535 missense possibly damaging 0.80
R7879:Klhl9 UTSW 4 88720338 missense probably damaging 1.00
R7909:Klhl9 UTSW 4 88721001 missense probably benign 0.12
R7962:Klhl9 UTSW 4 88720338 missense probably damaging 1.00
R7990:Klhl9 UTSW 4 88721001 missense probably benign 0.12
X0063:Klhl9 UTSW 4 88721951 missense probably benign
Posted On2015-04-16