Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Kif5c'

50385

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 #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

49619298-49774778 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49694816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 184 (I184V)

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

possibly damaging
Transcript: ENSMUST00000028102
AA Change: I184V

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: I184V

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,483,855	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,732,388	Y924H	possibly damaging	Het
Ash1l	T	G	3: 89,072,484	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cpne6	T	C	14: 55,512,730	F106S	probably damaging	Het
Cysltr1	A	T	X: 106,578,736	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,340,206	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,022,517	L262H	probably damaging	Het
Gart	G	A	16: 91,623,007	R871C	probably damaging	Het
Get4	C	T	5: 139,252,522	R20C	probably damaging	Het
Gm13030	G	A	4: 138,873,558		probably benign	Het
Gm17654	A	T	14: 43,578,998	H49Q	unknown	Het
Gpnmb	A	G	6: 49,055,659	I506V	probably benign	Het
Ist1	T	C	8: 109,682,611	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,633,192	D198N	probably damaging	Het
Mink1	A	T	11: 70,603,481	M236L	probably benign	Het
Muc5ac	A	T	7: 141,807,473	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,517,053	E1326D	probably damaging	Het
Olfr1329	A	T	4: 118,916,894	M191K	possibly damaging	Het
Olfr1469	T	C	19: 13,411,226	I219T	probably benign	Het
Olfr635	A	T	7: 103,979,792	Y200F	probably benign	Het
Patj	T	C	4: 98,496,973	S326P	possibly damaging	Het
Pdha2	T	C	3: 141,211,015	H244R	possibly damaging	Het
Pkhd1	C	T	1: 20,534,530		probably benign	Het
Ptk7	A	T	17: 46,573,566	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866	G438D	probably damaging	Het
Rbm27	T	C	18: 42,319,814	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,569,553	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,065,352	Y353C	probably damaging	Het
Srcap	T	C	7: 127,559,892		probably benign	Het
Sytl5	A	G	X: 9,905,595	H66R	probably benign	Het
Tlr7	T	A	X: 167,308,211	E93V	probably damaging	Het
Tmem156	A	G	5: 65,079,984	L76S	probably damaging	Het
Tmem246	C	T	4: 49,586,860	V103M	possibly damaging	Het
Tomm70a	T	C	16: 57,152,612	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347	Y261C	possibly damaging	Het

Other mutations in Kif5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Kif5c	APN	2	49701077	missense	probably damaging	1.00
IGL01459:Kif5c	APN	2	49735557	missense	probably benign	0.36
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

2013-06-21