Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01459:Kif5c'

87943

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif5c

Ensembl Gene

ENSMUSG00000026764

Gene Name

kinesin family member 5C

Synonyms

Khc

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01459

Quality Score

Status

Chromosome

Chromosomal Location

49619298-49774778 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49735557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 613 (D613G)

Ref Sequence

ENSEMBL: ENSMUSP00000028102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028102]

AlphaFold

P28738

PDB Structure

Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-AlFx [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-VO4 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028102
AA Change: D613G

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: D613G

Domain	Start	End	E-Value	Type
KISc	6	335	2.8e-173	SMART
low complexity region	340	357	N/A	INTRINSIC
coiled coil region	407	541	N/A	INTRINSIC
coiled coil region	592	803	N/A	INTRINSIC
coiled coil region	826	915	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152353

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 kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a2	A	G	5: 122,469,652	S265P	probably benign	Het
Brwd1	A	G	16: 96,047,420	F520L	probably damaging	Het
Cdh5	A	T	8: 104,137,817	D470V	probably damaging	Het
Cdr2l	A	G	11: 115,390,552	R41G	probably damaging	Het
Csrnp1	C	T	9: 119,972,958	C345Y	probably damaging	Het
Dscaml1	T	A	9: 45,742,683	Y1419*	probably null	Het
Entpd3	T	C	9: 120,561,941	S420P	probably damaging	Het
Epb41	A	G	4: 131,964,128		probably benign	Het
Erg	A	G	16: 95,361,282	S322P	probably damaging	Het
Fndc3b	T	A	3: 27,461,740	H639L	probably benign	Het
Grwd1	C	T	7: 45,830,410		probably null	Het
Kbtbd8	A	G	6: 95,122,808	N356D	probably benign	Het
Kif15	A	G	9: 122,975,755	E189G	probably damaging	Het
Kif2b	T	C	11: 91,577,023	K145E	possibly damaging	Het
Lipe	T	G	7: 25,383,542	Q457P	probably damaging	Het
Lrp1b	A	T	2: 40,860,714	I2946N	probably damaging	Het
Mtf2	C	T	5: 108,080,943	P42S	probably damaging	Het
Neb	A	G	2: 52,176,792	S5886P	probably damaging	Het
Nmu	A	G	5: 76,358,349		probably null	Het
Nup153	T	C	13: 46,712,926	E214G	possibly damaging	Het
Olfr301	A	C	7: 86,412,551	N104T	probably damaging	Het
Olfr792	G	A	10: 129,540,541	M1I	probably null	Het
Paqr3	T	C	5: 97,095,937	D306G	probably benign	Het
Plxna2	A	G	1: 194,764,570	D796G	probably benign	Het
Prkra	A	G	2: 76,630,436	L306S	probably damaging	Het
Psg20	T	A	7: 18,682,713	E159D	probably damaging	Het
Ptchd3	G	T	11: 121,830,420	V40L	probably benign	Het
Rfx5	T	C	3: 94,957,775		probably benign	Het
Rimbp2	A	G	5: 128,788,211		probably null	Het
Slc22a4	C	A	11: 53,986,477		probably null	Het
Tars	A	G	15: 11,391,854	V265A	possibly damaging	Het
Tatdn2	T	A	6: 113,710,031		probably null	Het
Tenm4	C	T	7: 96,729,385	P399L	probably damaging	Het
Tmem135	A	T	7: 89,151,438	D325E	probably damaging	Het
Tmprss7	A	T	16: 45,663,343	I556N	probably benign	Het
Tom1l2	C	T	11: 60,280,269	G23S	probably damaging	Het
Ubr2	A	G	17: 46,930,509		probably benign	Het
Vmn1r197	T	C	13: 22,328,071	I54T	probably benign	Het
Vmn2r116	T	C	17: 23,384,929	C43R	probably damaging	Het
Vps33a	A	G	5: 123,535,308	L405P	probably benign	Het
Zfp473	C	T	7: 44,739,563	D45N	probably damaging	Het

Other mutations in Kif5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Kif5c	APN	2	49694816	missense	possibly damaging	0.81
IGL01432:Kif5c	APN	2	49701077	missense	probably damaging	1.00
IGL02127:Kif5c	APN	2	49701110	splice site	probably null
IGL03088:Kif5c	APN	2	49744443	missense	probably benign	0.01
IGL03379:Kif5c	APN	2	49701092	missense	probably damaging	0.97
IGL02988:Kif5c	UTSW	2	49619717	missense	probably damaging	0.97
PIT4131001:Kif5c	UTSW	2	49694032	missense	probably damaging	0.99
PIT4469001:Kif5c	UTSW	2	49741348	missense	probably benign	0.00
R0017:Kif5c	UTSW	2	49732713	missense	probably benign
R0017:Kif5c	UTSW	2	49732713	missense	probably benign
R0116:Kif5c	UTSW	2	49752239	splice site	probably benign
R0550:Kif5c	UTSW	2	49758912	missense	possibly damaging	0.53
R0760:Kif5c	UTSW	2	49688753	missense	probably damaging	1.00
R0967:Kif5c	UTSW	2	49698116	unclassified	probably benign
R1015:Kif5c	UTSW	2	49744365	missense	probably benign	0.13
R1758:Kif5c	UTSW	2	49723133	missense	probably benign	0.00
R1786:Kif5c	UTSW	2	49758805	splice site	probably benign
R1828:Kif5c	UTSW	2	49680240	critical splice donor site	probably null
R2130:Kif5c	UTSW	2	49758805	splice site	probably benign
R2132:Kif5c	UTSW	2	49758805	splice site	probably benign
R2237:Kif5c	UTSW	2	49694008	missense	probably benign	0.35
R3970:Kif5c	UTSW	2	49688744	missense	probably damaging	1.00
R4439:Kif5c	UTSW	2	49688725	missense	possibly damaging	0.90
R5260:Kif5c	UTSW	2	49735590	missense	probably damaging	0.99
R5318:Kif5c	UTSW	2	49671828	missense	probably benign
R5345:Kif5c	UTSW	2	49723066	missense	probably benign
R5490:Kif5c	UTSW	2	49758858	missense	probably benign
R5496:Kif5c	UTSW	2	49730190	missense	possibly damaging	0.69
R5567:Kif5c	UTSW	2	49730199	missense	possibly damaging	0.64
R5570:Kif5c	UTSW	2	49730199	missense	possibly damaging	0.64
R6019:Kif5c	UTSW	2	49735509	missense	probably benign	0.09
R6688:Kif5c	UTSW	2	49688737	missense	probably benign	0.06
R7006:Kif5c	UTSW	2	49735514	missense	probably damaging	0.97
R7009:Kif5c	UTSW	2	49757429	missense	probably benign
R7081:Kif5c	UTSW	2	49741361	missense	probably benign	0.00
R7372:Kif5c	UTSW	2	49758659	splice site	probably null
R7512:Kif5c	UTSW	2	49700965	missense	probably damaging	1.00
R7549:Kif5c	UTSW	2	49701093	missense	probably benign	0.11
R7764:Kif5c	UTSW	2	49727961	critical splice donor site	probably null
R7764:Kif5c	UTSW	2	49749327	missense	probably damaging	1.00
R7904:Kif5c	UTSW	2	49701083	missense	probably damaging	1.00
R8292:Kif5c	UTSW	2	49735485	missense	probably benign	0.05
R8735:Kif5c	UTSW	2	49694771	missense	probably damaging	1.00
R8816:Kif5c	UTSW	2	49694787	missense	probably damaging	1.00
R9109:Kif5c	UTSW	2	49730139	missense	probably damaging	1.00
R9139:Kif5c	UTSW	2	49730279	missense	probably benign	0.00
R9257:Kif5c	UTSW	2	49700592	nonsense	probably null
R9325:Kif5c	UTSW	2	49749366	missense	probably benign	0.04
R9368:Kif5c	UTSW	2	49732780	missense	probably damaging	0.99
R9748:Kif5c	UTSW	2	49694847	missense	probably damaging	1.00

Posted On

2013-11-18