Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Kif5c'

418217

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 #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

49509310-49664790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49634455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 762 (R762S)

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: R762S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: R762S

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: ENSMUST00000127245

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Afg1l	T	A	10: 42,302,493 (GRCm39)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,893,362 (GRCm39)	T34S	probably benign	Het
Haspin	C	T	11: 73,027,451 (GRCm39)	R546Q	probably damaging	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Popdc2	A	T	16: 38,194,184 (GRCm39)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,682,308 (GRCm39)	S311P	probably damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	probably damaging	Het

Other mutations in Kif5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Kif5c	APN	2	49,584,828 (GRCm39)	missense	possibly damaging	0.81
IGL01432:Kif5c	APN	2	49,591,089 (GRCm39)	missense	probably damaging	1.00
IGL01459:Kif5c	APN	2	49,625,569 (GRCm39)	missense	probably benign	0.36
IGL02127:Kif5c	APN	2	49,591,122 (GRCm39)	splice site	probably null
IGL03379:Kif5c	APN	2	49,591,104 (GRCm39)	missense	probably damaging	0.97
IGL02988:Kif5c	UTSW	2	49,509,729 (GRCm39)	missense	probably damaging	0.97
PIT4131001:Kif5c	UTSW	2	49,584,044 (GRCm39)	missense	probably damaging	0.99
PIT4469001:Kif5c	UTSW	2	49,631,360 (GRCm39)	missense	probably benign	0.00
R0017:Kif5c	UTSW	2	49,622,725 (GRCm39)	missense	probably benign
R0017:Kif5c	UTSW	2	49,622,725 (GRCm39)	missense	probably benign
R0116:Kif5c	UTSW	2	49,642,251 (GRCm39)	splice site	probably benign
R0550:Kif5c	UTSW	2	49,648,924 (GRCm39)	missense	possibly damaging	0.53
R0760:Kif5c	UTSW	2	49,578,765 (GRCm39)	missense	probably damaging	1.00
R0967:Kif5c	UTSW	2	49,588,128 (GRCm39)	unclassified	probably benign
R1015:Kif5c	UTSW	2	49,634,377 (GRCm39)	missense	probably benign	0.13
R1758:Kif5c	UTSW	2	49,613,145 (GRCm39)	missense	probably benign	0.00
R1786:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R1828:Kif5c	UTSW	2	49,570,252 (GRCm39)	critical splice donor site	probably null
R2130:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R2132:Kif5c	UTSW	2	49,648,817 (GRCm39)	splice site	probably benign
R2237:Kif5c	UTSW	2	49,584,020 (GRCm39)	missense	probably benign	0.35
R3970:Kif5c	UTSW	2	49,578,756 (GRCm39)	missense	probably damaging	1.00
R4439:Kif5c	UTSW	2	49,578,737 (GRCm39)	missense	possibly damaging	0.90
R5260:Kif5c	UTSW	2	49,625,602 (GRCm39)	missense	probably damaging	0.99
R5318:Kif5c	UTSW	2	49,561,840 (GRCm39)	missense	probably benign
R5345:Kif5c	UTSW	2	49,613,078 (GRCm39)	missense	probably benign
R5490:Kif5c	UTSW	2	49,648,870 (GRCm39)	missense	probably benign
R5496:Kif5c	UTSW	2	49,620,202 (GRCm39)	missense	possibly damaging	0.69
R5567:Kif5c	UTSW	2	49,620,211 (GRCm39)	missense	possibly damaging	0.64
R5570:Kif5c	UTSW	2	49,620,211 (GRCm39)	missense	possibly damaging	0.64
R6019:Kif5c	UTSW	2	49,625,521 (GRCm39)	missense	probably benign	0.09
R6688:Kif5c	UTSW	2	49,578,749 (GRCm39)	missense	probably benign	0.06
R7006:Kif5c	UTSW	2	49,625,526 (GRCm39)	missense	probably damaging	0.97
R7009:Kif5c	UTSW	2	49,647,441 (GRCm39)	missense	probably benign
R7081:Kif5c	UTSW	2	49,631,373 (GRCm39)	missense	probably benign	0.00
R7372:Kif5c	UTSW	2	49,648,671 (GRCm39)	splice site	probably null
R7512:Kif5c	UTSW	2	49,590,977 (GRCm39)	missense	probably damaging	1.00
R7549:Kif5c	UTSW	2	49,591,105 (GRCm39)	missense	probably benign	0.11
R7764:Kif5c	UTSW	2	49,639,339 (GRCm39)	missense	probably damaging	1.00
R7764:Kif5c	UTSW	2	49,617,973 (GRCm39)	critical splice donor site	probably null
R7904:Kif5c	UTSW	2	49,591,095 (GRCm39)	missense	probably damaging	1.00
R8292:Kif5c	UTSW	2	49,625,497 (GRCm39)	missense	probably benign	0.05
R8735:Kif5c	UTSW	2	49,584,783 (GRCm39)	missense	probably damaging	1.00
R8816:Kif5c	UTSW	2	49,584,799 (GRCm39)	missense	probably damaging	1.00
R9109:Kif5c	UTSW	2	49,620,151 (GRCm39)	missense	probably damaging	1.00
R9139:Kif5c	UTSW	2	49,620,291 (GRCm39)	missense	probably benign	0.00
R9257:Kif5c	UTSW	2	49,590,604 (GRCm39)	nonsense	probably null
R9325:Kif5c	UTSW	2	49,639,378 (GRCm39)	missense	probably benign	0.04
R9368:Kif5c	UTSW	2	49,622,792 (GRCm39)	missense	probably damaging	0.99
R9748:Kif5c	UTSW	2	49,584,859 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02