Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02039:Kif5a'

184633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif5a

Ensembl Gene

ENSMUSG00000074657

Gene Name

kinesin family member 5A

Synonyms

Khc, Kns, Kif5, D10Bwg0738e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

127225696-127263348 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127233867 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 830 (I830V)

Ref Sequence

ENSEMBL: ENSMUSP00000151402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099172] [ENSMUST00000217895] [ENSMUST00000218298]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099172
AA Change: I830V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: I830V

Domain	Start	End	E-Value	Type
KISc	7	335	7.38e-173	SMART
low complexity region	340	362	N/A	INTRINSIC
coiled coil region	408	539	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
coiled coil region	632	800	N/A	INTRINSIC
coiled coil region	822	905	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217895
AA Change: I830V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000218298

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 member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes complete neonatal lethality. Homozygotes delivered by caesarian section are alive at E18.5 but usually die within minutes after birth, exhibiting an abnormal breathing pattern, atelectasis, cyanosis, and abnormal motor neuron morphology in the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,297,193	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,972,267	I1323T	probably benign	Het
C87436	A	G	6: 86,453,695	M366V	probably benign	Het
Cep290	T	C	10: 100,514,602		probably null	Het
Cpsf3	T	C	12: 21,301,456	M326T	probably damaging	Het
Cpxm2	A	G	7: 132,047,753	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,478,594	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,875,021	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,764,027		probably null	Het
Dnah2	T	A	11: 69,499,212	I736F	probably damaging	Het
Erf	T	C	7: 25,244,544	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,719	V1482A	probably benign	Het
Fmn1	T	C	2: 113,365,080	L375P	unknown	Het
Foxm1	T	C	6: 128,369,360	Y85H	probably damaging	Het
Frem3	A	G	8: 80,612,971	E631G	probably damaging	Het
Fsip1	T	C	2: 118,240,414	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,864,486	Q330*	probably null	Het
Grin1	C	T	2: 25,305,342	V246M	probably damaging	Het
Ifitm3	C	A	7: 141,010,650		probably benign	Het
Igdcc3	G	A	9: 65,183,880	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,578,594	I87T	probably benign	Het
Imp4	G	A	1: 34,443,768		probably null	Het
Ino80	T	C	2: 119,380,073	N1327D	probably damaging	Het
Mgea5	A	T	19: 45,773,703	V237E	probably damaging	Het
Muc5b	A	G	7: 141,871,164	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,522,110	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995		probably benign	Het
Nup35	T	C	2: 80,642,775	M64T	probably benign	Het
Nxpe2	T	A	9: 48,319,659	N470I	probably benign	Het
Olfr109	T	A	17: 37,466,449	I81N	possibly damaging	Het
Olfr1502	C	T	19: 13,862,719	Q309*	probably null	Het
Os9	G	A	10: 127,096,291	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,105,032	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,435,368		probably null	Het
Pola2	A	T	19: 5,948,469	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,515,994	R15*	probably null	Het
Prpf40a	T	C	2: 53,144,803	D749G	probably damaging	Het
Rhoh	T	C	5: 65,892,638	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,809,094		probably null	Het
Slc37a2	A	G	9: 37,233,684	I454T	probably damaging	Het
Smarca2	A	G	19: 26,716,137	D28G	probably damaging	Het
Socs4	T	C	14: 47,290,193	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980		probably null	Het
Thbd	T	C	2: 148,406,542	T469A	probably benign	Het
Thoc5	T	C	11: 4,922,027		probably null	Het
Vmn1r173	G	T	7: 23,702,896	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,454,381	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,556,189	E408G	probably damaging	Het
Yars	A	T	4: 129,215,259	I428F	probably damaging	Het
Zglp1	T	C	9: 21,067,039	E14G	possibly damaging	Het

Other mutations in Kif5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Kif5a	APN	10	127239196	missense	probably benign
IGL01405:Kif5a	APN	10	127245990	missense	probably damaging	1.00
IGL01637:Kif5a	APN	10	127245368	missense	possibly damaging	0.94
IGL01894:Kif5a	APN	10	127262779	missense	probably benign	0.04
IGL01978:Kif5a	APN	10	127245739	missense	probably benign
IGL02052:Kif5a	APN	10	127243499	missense	probably damaging	1.00
IGL02336:Kif5a	APN	10	127242696	missense	possibly damaging	0.87
IGL02352:Kif5a	APN	10	127243501	missense	probably damaging	1.00
IGL02359:Kif5a	APN	10	127243501	missense	probably damaging	1.00
IGL02834:Kif5a	APN	10	127245756	missense	probably benign	0.00
IGL03101:Kif5a	APN	10	127235609	unclassified	probably benign
R0463:Kif5a	UTSW	10	127235652	missense	probably benign	0.00
R0790:Kif5a	UTSW	10	127246009	intron	probably benign
R1070:Kif5a	UTSW	10	127245406	missense	probably benign	0.00
R1404:Kif5a	UTSW	10	127245442	missense	probably benign	0.12
R1404:Kif5a	UTSW	10	127245442	missense	probably benign	0.12
R1502:Kif5a	UTSW	10	127245441	missense	probably damaging	1.00
R1812:Kif5a	UTSW	10	127242010	missense	probably benign	0.03
R1837:Kif5a	UTSW	10	127236815	nonsense	probably null
R1838:Kif5a	UTSW	10	127236815	nonsense	probably null
R2012:Kif5a	UTSW	10	127239175	missense	probably benign
R2072:Kif5a	UTSW	10	127245369	missense	probably damaging	0.99
R2073:Kif5a	UTSW	10	127245369	missense	probably damaging	0.99
R2074:Kif5a	UTSW	10	127245369	missense	probably damaging	0.99
R2075:Kif5a	UTSW	10	127245369	missense	probably damaging	0.99
R2440:Kif5a	UTSW	10	127231336	missense	probably benign	0.34
R3157:Kif5a	UTSW	10	127245441	missense	probably damaging	1.00
R3688:Kif5a	UTSW	10	127242774	missense	probably damaging	1.00
R3740:Kif5a	UTSW	10	127243468	missense	probably damaging	1.00
R4782:Kif5a	UTSW	10	127230954	missense	probably benign	0.01
R5049:Kif5a	UTSW	10	127239839	missense	possibly damaging	0.93
R5723:Kif5a	UTSW	10	127231029	frame shift	probably null
R5764:Kif5a	UTSW	10	127231029	frame shift	probably null
R5838:Kif5a	UTSW	10	127245441	missense	probably damaging	1.00
R5903:Kif5a	UTSW	10	127230578	missense	probably benign	0.00
R6299:Kif5a	UTSW	10	127233821	missense	probably damaging	1.00
R6384:Kif5a	UTSW	10	127242775	missense	probably damaging	1.00
R6629:Kif5a	UTSW	10	127248254	missense	probably damaging	1.00

Posted On

2014-05-07