Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Kif5c'

206974

Institutional Source

Beutler Lab

Gene Symbol

Kif5c

Ensembl Gene

ENSMUSG00000026764

Gene Name

kinesin family member 5C

Synonyms

Khc

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49509310-49664790 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 49570252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000028102

SMART Domains

Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764

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: ENSMUST00000120607

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTAAAGCACATGCAGTTGG -3'
(R):5'- ACTTGGACAGACAGCTCAAC -3'

Sequencing Primer
(F):5'- GCAGTTGGCACATATCATTTTTG -3'
(R):5'- TTGGACAGACAGCTCAACCAAGG -3'

Posted On

2014-06-23