Incidental Mutation 'IGL01680:Kif23'
ID103762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif23
Ensembl Gene ENSMUSG00000032254
Gene Namekinesin family member 23
SynonymsMKLP-1, Knsl5, C87313, 3110001D19Rik, MKLP1, CHO1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #IGL01680
Quality Score
Status
Chromosome9
Chromosomal Location61915905-61946774 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61931814 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 319 (D319G)
Ref Sequence ENSEMBL: ENSMUSP00000034815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034815] [ENSMUST00000214295]
Predicted Effect probably benign
Transcript: ENSMUST00000034815
AA Change: D319G

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: D319G

DomainStartEndE-ValueType
KISc 23 444 6.56e-147 SMART
Blast:KISc 524 607 8e-20 BLAST
low complexity region 661 678 N/A INTRINSIC
low complexity region 681 693 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
Pfam:MKLP1_Arf_bdg 796 899 9.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213595
Predicted Effect probably benign
Transcript: ENSMUST00000214295
AA Change: D333G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216717
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,402,620 W121R unknown Het
Adprh C T 16: 38,450,216 G76S possibly damaging Het
Arhgap31 T C 16: 38,603,614 T697A probably benign Het
Ces2f T C 8: 104,954,073 M489T probably benign Het
Clec5a A G 6: 40,584,380 Y44H probably benign Het
Csmd3 T C 15: 47,970,030 H950R probably damaging Het
Dgkz G T 2: 91,935,865 P784T probably benign Het
Dok1 T C 6: 83,031,312 D463G possibly damaging Het
Eif4a2 C A 16: 23,109,191 Q94K probably benign Het
Epg5 T C 18: 78,012,741 L1710P probably damaging Het
Fam45a A G 19: 60,817,534 T86A possibly damaging Het
Fign A G 2: 63,978,644 probably benign Het
Gbp10 T C 5: 105,224,271 probably null Het
Gga2 G T 7: 121,998,076 D363E probably benign Het
Glis2 T A 16: 4,611,331 F133I possibly damaging Het
Isg20 A G 7: 78,916,585 D94G probably damaging Het
Lbr C A 1: 181,836,194 R87L probably damaging Het
Map3k9 T C 12: 81,724,739 T715A probably benign Het
Mapk14 T C 17: 28,725,846 probably null Het
Mpp4 A C 1: 59,130,067 C341W probably benign Het
Mroh9 C T 1: 163,047,982 probably null Het
Myo16 T C 8: 10,272,630 V20A probably damaging Het
Olfr1120 T C 2: 87,357,905 S154P probably damaging Het
Olfr371 A T 8: 85,230,679 L61F probably benign Het
Olfr551 A T 7: 102,588,229 C171* probably null Het
Pofut2 C T 10: 77,263,293 R186W probably damaging Het
Ppp1r1b T A 11: 98,350,566 probably null Het
Slc34a2 A G 5: 53,060,876 I166V probably damaging Het
Slc4a2 A G 5: 24,432,930 T375A probably benign Het
Slitrk5 C A 14: 111,679,000 H19N probably benign Het
Sptb T A 12: 76,630,682 Q126L probably damaging Het
Stoml1 T C 9: 58,256,713 V105A probably damaging Het
Stt3b C A 9: 115,246,261 probably benign Het
Thbs4 T C 13: 92,776,980 E144G probably benign Het
Tns3 A G 11: 8,548,937 Y49H probably damaging Het
Vmn2r87 C T 10: 130,479,717 W160* probably null Het
Zfp647 T A 15: 76,917,768 probably benign Het
Other mutations in Kif23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Kif23 APN 9 61926468 missense probably benign 0.19
IGL00814:Kif23 APN 9 61937107 missense possibly damaging 0.95
IGL01295:Kif23 APN 9 61932129 missense possibly damaging 0.89
IGL01521:Kif23 APN 9 61919900 missense probably damaging 0.99
IGL01583:Kif23 APN 9 61935468 missense probably damaging 1.00
IGL02450:Kif23 APN 9 61923957 missense probably benign 0.00
IGL02698:Kif23 APN 9 61925001 missense possibly damaging 0.49
IGL03152:Kif23 APN 9 61929776 splice site probably benign
IGL03233:Kif23 APN 9 61926453 missense probably benign 0.05
H8562:Kif23 UTSW 9 61924065 missense probably benign
R0225:Kif23 UTSW 9 61925694 splice site probably benign
R0419:Kif23 UTSW 9 61926405 nonsense probably null
R0512:Kif23 UTSW 9 61918975 splice site probably benign
R0731:Kif23 UTSW 9 61925032 missense possibly damaging 0.67
R0980:Kif23 UTSW 9 61936764 missense possibly damaging 0.93
R1315:Kif23 UTSW 9 61923988 unclassified probably null
R1347:Kif23 UTSW 9 61927156 missense probably damaging 0.99
R1347:Kif23 UTSW 9 61927156 missense probably damaging 0.99
R1451:Kif23 UTSW 9 61924802 missense probably damaging 1.00
R1624:Kif23 UTSW 9 61925700 splice site probably null
R1820:Kif23 UTSW 9 61926438 missense possibly damaging 0.67
R1867:Kif23 UTSW 9 61918961 missense possibly damaging 0.87
R1937:Kif23 UTSW 9 61946610 critical splice donor site probably null
R2001:Kif23 UTSW 9 61927384 nonsense probably null
R2002:Kif23 UTSW 9 61927384 nonsense probably null
R2310:Kif23 UTSW 9 61924144 missense probably damaging 1.00
R2680:Kif23 UTSW 9 61937476 missense probably benign 0.25
R3196:Kif23 UTSW 9 61931911 nonsense probably null
R3774:Kif23 UTSW 9 61924992 missense probably benign 0.00
R3775:Kif23 UTSW 9 61924992 missense probably benign 0.00
R3776:Kif23 UTSW 9 61924992 missense probably benign 0.00
R4349:Kif23 UTSW 9 61932114 missense probably damaging 1.00
R4671:Kif23 UTSW 9 61945359 missense probably benign 0.04
R4981:Kif23 UTSW 9 61931871 missense probably damaging 1.00
R4983:Kif23 UTSW 9 61936703 missense probably benign 0.01
R5685:Kif23 UTSW 9 61945409 missense probably benign 0.12
R5721:Kif23 UTSW 9 61944216 missense probably benign 0.45
R6903:Kif23 UTSW 9 61927154 missense possibly damaging 0.77
R7067:Kif23 UTSW 9 61924989 missense probably benign 0.01
R7103:Kif23 UTSW 9 61919892 missense probably damaging 0.99
R7456:Kif23 UTSW 9 61937120 missense probably benign 0.09
R7468:Kif23 UTSW 9 61937175 nonsense probably null
Posted On2014-01-21