Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01680:Kif23'

103762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif23

Ensembl Gene

ENSMUSG00000032254

Gene Name

kinesin family member 23

Synonyms

MKLP-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

Chromosome

Chromosomal Location

61915905-61946774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61931814 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2014-01-21