Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Kif5c'

84181

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 #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

49509310-49664790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49591089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 314 (T314A)

Ref Sequence

ENSEMBL: ENSMUSP00000028102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028102] [ENSMUST00000146247]

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 damaging
Transcript: ENSMUST00000028102
AA Change: T314A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: T314A

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

probably damaging
Transcript: ENSMUST00000146247
AA Change: T50A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117370
Gene: ENSMUSG00000026764
AA Change: T50A

Domain	Start	End	E-Value	Type
Pfam:Kinesin	1	63	2.1e-23	PFAM
coiled coil region	67	109	N/A	INTRINSIC
coiled coil region	143	243	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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh9a1	T	C	1: 167,183,354 (GRCm39)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,612,566 (GRCm39)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,475,328 (GRCm39)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,358,514 (GRCm39)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,242,125 (GRCm39)	K892E	probably benign	Het
Bltp1	T	A	3: 37,057,908 (GRCm39)	V3166E	possibly damaging	Het
Bpnt1	G	A	1: 185,086,218 (GRCm39)	W261*	probably null	Het
Calu	A	G	6: 29,356,552 (GRCm39)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 96,264,885 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,605,405 (GRCm39)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,831,033 (GRCm39)	K290R	probably damaging	Het
Cep131	G	A	11: 119,967,835 (GRCm39)	A140V	possibly damaging	Het
Cfap251	A	G	5: 123,418,015 (GRCm39)	I81M	possibly damaging	Het
Chn1	A	T	2: 73,462,096 (GRCm39)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,655,295 (GRCm39)		probably benign	Het
Crispld1	A	T	1: 17,817,025 (GRCm39)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,596,895 (GRCm39)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,015,043 (GRCm39)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,785,835 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,030,557 (GRCm39)	I299N	unknown	Het
Dll1	A	G	17: 15,588,768 (GRCm39)	Y636H	probably damaging	Het
Eng	A	T	2: 32,559,544 (GRCm39)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,578,324 (GRCm39)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,547,043 (GRCm39)	T461S	probably benign	Het
Gbf1	T	C	19: 46,268,434 (GRCm39)	Y1269H	probably damaging	Het
Gm5852	A	G	3: 93,635,086 (GRCm39)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,330,052 (GRCm39)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,182,229 (GRCm39)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,432,472 (GRCm39)	C842S	probably damaging	Het
Iws1	A	G	18: 32,216,519 (GRCm39)		probably benign	Het
Klhdc1	A	C	12: 69,298,751 (GRCm39)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,720,393 (GRCm39)	T3865A	unknown	Het
Lgr5	T	C	10: 115,288,997 (GRCm39)	K477R	probably damaging	Het
Ly75	A	T	2: 60,206,351 (GRCm39)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,675,655 (GRCm39)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,017,348 (GRCm39)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,864,202 (GRCm39)	D456G	probably benign	Het
Mstn	A	G	1: 53,105,689 (GRCm39)	T344A	possibly damaging	Het
Npr1	T	A	3: 90,370,543 (GRCm39)	I308F	possibly damaging	Het
Oasl1	G	A	5: 115,075,466 (GRCm39)	V509M	probably benign	Het
Obscn	T	C	11: 58,924,583 (GRCm39)	M5727V	probably benign	Het
Or2d4	T	C	7: 106,543,748 (GRCm39)	I153M	possibly damaging	Het
Or4c114	T	A	2: 88,904,545 (GRCm39)	I297F	probably benign	Het
Or4k15c	T	A	14: 50,321,404 (GRCm39)	T245S	probably benign	Het
Or5an1c	A	G	19: 12,218,891 (GRCm39)	S45P	probably damaging	Het
Pcgf1	T	C	6: 83,055,398 (GRCm39)	I11T	possibly damaging	Het
Phactr3	T	C	2: 177,924,893 (GRCm39)	V276A	probably benign	Het
Pla2g6	A	T	15: 79,202,168 (GRCm39)	M1K	probably null	Het
Plec	T	C	15: 76,074,728 (GRCm39)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,326,626 (GRCm39)	A187S	possibly damaging	Het
Polq	A	T	16: 36,892,184 (GRCm39)		probably benign	Het
Pramel51	T	C	12: 88,143,202 (GRCm39)	K139E	probably benign	Het
Prss39	A	G	1: 34,541,216 (GRCm39)	D240G	probably benign	Het
Ptpn12	A	T	5: 21,203,553 (GRCm39)	Y408*	probably null	Het
Ptprt	A	G	2: 162,109,999 (GRCm39)		probably benign	Het
Rnf6	A	T	5: 146,152,931 (GRCm39)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,866,090 (GRCm39)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,113,491 (GRCm39)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,182,012 (GRCm39)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,738,285 (GRCm39)	T527A	probably damaging	Het
Smg9	T	C	7: 24,120,691 (GRCm39)		probably null	Het
Snx25	A	G	8: 46,558,197 (GRCm39)	L270P	probably damaging	Het
Ssh1	G	T	5: 114,096,883 (GRCm39)	T165N	probably benign	Het
Stk24	T	A	14: 121,540,218 (GRCm39)	E127V	probably damaging	Het
Suco	A	G	1: 161,661,689 (GRCm39)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,366,506 (GRCm39)		probably benign	Het
Tbcel	A	T	9: 42,355,817 (GRCm39)	L114Q	possibly damaging	Het
Trpm1	A	G	7: 63,884,767 (GRCm39)	D816G	probably benign	Het
Uhrf1	G	A	17: 56,625,250 (GRCm39)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,095,367 (GRCm39)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,691,201 (GRCm39)	M6T	probably benign	Het
Vmn2r59	C	T	7: 41,661,983 (GRCm39)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,239 (GRCm39)	H367N	probably benign	Het
Xpo6	A	G	7: 125,723,553 (GRCm39)	V585A	probably benign	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
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
IGL03088:Kif5c	APN	2	49,634,455 (GRCm39)	missense	probably benign	0.01
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

2013-11-11