Mutagenetix > Incidental Mutation

Incidental Mutation 'R1661:Kif1c'

186764

Institutional Source

Beutler Lab

Gene Symbol

Kif1c

Ensembl Gene

ENSMUSG00000020821

Gene Name

kinesin family member 1C

Synonyms

N-3 kinsin, B430105J22Rik, D11Bwg1349e, Orch3

MMRRC Submission

039697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1661 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

70591374-70622790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70619223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 953 (L953F)

Ref Sequence

ENSEMBL: ENSMUSP00000072048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072187] [ENSMUST00000094499] [ENSMUST00000102554] [ENSMUST00000137119]

AlphaFold

O35071

Predicted Effect

probably damaging
Transcript: ENSMUST00000072187
AA Change: L953F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: L953F

Domain	Start	End	E-Value	Type
KISc	3	356	6.18e-175	SMART
low complexity region	402	418	N/A	INTRINSIC
FHA	522	575	1.45e-2	SMART
low complexity region	607	622	N/A	INTRINSIC
coiled coil region	634	673	N/A	INTRINSIC
coiled coil region	842	883	N/A	INTRINSIC
low complexity region	955	975	N/A	INTRINSIC
low complexity region	1009	1055	N/A	INTRINSIC
low complexity region	1072	1100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094499
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: L941F

Domain	Start	End	E-Value	Type
KISc	3	356	6.18e-175	SMART
low complexity region	402	418	N/A	INTRINSIC
FHA	522	575	1.45e-2	SMART
low complexity region	607	622	N/A	INTRINSIC
coiled coil region	634	671	N/A	INTRINSIC
coiled coil region	830	871	N/A	INTRINSIC
low complexity region	943	963	N/A	INTRINSIC
low complexity region	997	1043	N/A	INTRINSIC
low complexity region	1060	1088	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102554
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: L941F

Domain	Start	End	E-Value	Type
KISc	3	356	6.18e-175	SMART
low complexity region	402	418	N/A	INTRINSIC
FHA	522	575	1.45e-2	SMART
low complexity region	607	622	N/A	INTRINSIC
coiled coil region	634	671	N/A	INTRINSIC
coiled coil region	830	871	N/A	INTRINSIC
low complexity region	943	963	N/A	INTRINSIC
low complexity region	997	1043	N/A	INTRINSIC
low complexity region	1060	1088	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137119
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: L941F

Domain	Start	End	E-Value	Type
KISc	3	356	6.18e-175	SMART
low complexity region	402	418	N/A	INTRINSIC
FHA	522	575	1.45e-2	SMART
low complexity region	607	622	N/A	INTRINSIC
coiled coil region	634	671	N/A	INTRINSIC
coiled coil region	830	871	N/A	INTRINSIC
low complexity region	943	963	N/A	INTRINSIC
low complexity region	997	1043	N/A	INTRINSIC
low complexity region	1060	1088	N/A	INTRINSIC

Meta Mutation Damage Score

0.0682

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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 member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Adamts9	G	T	6: 92,857,604 (GRCm39)	Q895K	possibly damaging	Het
Ajm1	T	C	2: 25,469,167 (GRCm39)	D248G	possibly damaging	Het
Amotl2	T	A	9: 102,607,295 (GRCm39)	I701N	probably damaging	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Appbp2	T	C	11: 85,100,936 (GRCm39)		probably null	Het
Arhgap33	A	C	7: 30,231,748 (GRCm39)	C113W	probably damaging	Het
Asprv1	A	G	6: 86,605,718 (GRCm39)	N188S	probably damaging	Het
Atp8a2	T	C	14: 60,097,635 (GRCm39)	I798V	possibly damaging	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Cep89	A	G	7: 35,117,105 (GRCm39)	T236A	possibly damaging	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Cog2	T	C	8: 125,269,629 (GRCm39)	F390L	probably benign	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Ddb1	A	T	19: 10,606,444 (GRCm39)	Y1114F	probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Dync1h1	T	C	12: 110,622,791 (GRCm39)	F3494L	probably damaging	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Fam222b	A	G	11: 78,045,987 (GRCm39)	Y388C	probably damaging	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Fbxo32	A	C	15: 58,054,865 (GRCm39)	V156G	probably damaging	Het
Fem1b	C	T	9: 62,704,556 (GRCm39)	V235I	probably damaging	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Garin1a	G	C	6: 29,285,937 (GRCm39)	R132P	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ighmbp2	A	G	19: 3,317,246 (GRCm39)	L542P	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itpr1	A	G	6: 108,459,858 (GRCm39)	N2051D	probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Megf8	A	G	7: 25,063,272 (GRCm39)	T2543A	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nnmt	A	G	9: 48,516,174 (GRCm39)	S29P	probably benign	Het
Nrde2	A	T	12: 100,116,119 (GRCm39)	S122T	probably benign	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or7g33	C	T	9: 19,448,624 (GRCm39)	V201I	probably benign	Het
Pced1b	A	G	15: 97,282,594 (GRCm39)	H211R	probably benign	Het
Pcsk5	A	T	19: 17,424,938 (GRCm39)	S1622T	probably damaging	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Phf11a	A	T	14: 59,518,237 (GRCm39)	L170H	probably damaging	Het
Ppil6	A	G	10: 41,390,176 (GRCm39)	D307G	probably benign	Het
Ppp6r2	A	G	15: 89,137,254 (GRCm39)	D6G	possibly damaging	Het
Psmd12	A	T	11: 107,382,732 (GRCm39)	K212N	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ryr1	A	T	7: 28,801,163 (GRCm39)	I860N	probably damaging	Het
Saal1	A	T	7: 46,342,224 (GRCm39)	N406K	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,266,759 (GRCm39)	Y277N	probably damaging	Het
Slitrk1	A	T	14: 109,149,359 (GRCm39)	Y451N	probably damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Smarcd1	A	T	15: 99,605,519 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,613,496 (GRCm39)	D403G	probably benign	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tasor2	C	T	13: 3,623,860 (GRCm39)	S2030N	possibly damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het

Other mutations in Kif1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Kif1c	APN	11	70,614,960 (GRCm39)	splice site	probably null
IGL00817:Kif1c	APN	11	70,596,079 (GRCm39)	missense	probably benign	0.25
IGL00849:Kif1c	APN	11	70,596,953 (GRCm39)	missense	probably damaging	1.00
IGL01988:Kif1c	APN	11	70,595,762 (GRCm39)	missense	probably damaging	1.00
IGL02683:Kif1c	APN	11	70,617,278 (GRCm39)	missense	possibly damaging	0.85
IGL03024:Kif1c	APN	11	70,596,015 (GRCm39)	missense	probably damaging	1.00
R0570:Kif1c	UTSW	11	70,595,291 (GRCm39)	missense	probably damaging	0.96
R0647:Kif1c	UTSW	11	70,616,967 (GRCm39)	missense	probably damaging	1.00
R0710:Kif1c	UTSW	11	70,617,323 (GRCm39)	missense	probably benign
R1112:Kif1c	UTSW	11	70,615,641 (GRCm39)	splice site	probably null
R1199:Kif1c	UTSW	11	70,599,427 (GRCm39)	missense	possibly damaging	0.69
R1514:Kif1c	UTSW	11	70,596,555 (GRCm39)	missense	probably damaging	1.00
R1660:Kif1c	UTSW	11	70,619,223 (GRCm39)	missense	probably damaging	0.99
R1666:Kif1c	UTSW	11	70,619,223 (GRCm39)	missense	probably damaging	0.99
R1669:Kif1c	UTSW	11	70,619,223 (GRCm39)	missense	probably damaging	0.99
R1707:Kif1c	UTSW	11	70,619,223 (GRCm39)	missense	probably damaging	0.99
R1708:Kif1c	UTSW	11	70,619,223 (GRCm39)	missense	probably damaging	0.99
R1835:Kif1c	UTSW	11	70,599,797 (GRCm39)	missense	probably damaging	0.99
R1861:Kif1c	UTSW	11	70,594,168 (GRCm39)	missense	probably damaging	1.00
R2870:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2870:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2871:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2871:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70,614,907 (GRCm39)	missense	probably damaging	0.99
R2927:Kif1c	UTSW	11	70,617,140 (GRCm39)	missense	probably benign
R3720:Kif1c	UTSW	11	70,594,597 (GRCm39)	missense	possibly damaging	0.94
R4809:Kif1c	UTSW	11	70,617,183 (GRCm39)	missense	probably benign	0.10
R4914:Kif1c	UTSW	11	70,599,681 (GRCm39)	missense	probably damaging	0.99
R5642:Kif1c	UTSW	11	70,599,273 (GRCm39)	missense	probably benign	0.14
R5788:Kif1c	UTSW	11	70,599,654 (GRCm39)	missense	probably damaging	1.00
R5861:Kif1c	UTSW	11	70,594,621 (GRCm39)	missense	probably damaging	1.00
R6918:Kif1c	UTSW	11	70,597,813 (GRCm39)	missense	probably damaging	1.00
R7456:Kif1c	UTSW	11	70,619,424 (GRCm39)	missense	probably benign	0.00
R7857:Kif1c	UTSW	11	70,619,103 (GRCm39)	missense	probably benign
R8841:Kif1c	UTSW	11	70,615,659 (GRCm39)	missense	probably benign	0.02
R9004:Kif1c	UTSW	11	70,615,958 (GRCm39)	missense	probably benign	0.30
R9117:Kif1c	UTSW	11	70,595,798 (GRCm39)	missense	probably damaging	1.00
R9714:Kif1c	UTSW	11	70,615,660 (GRCm39)	missense	probably benign	0.29
Z1177:Kif1c	UTSW	11	70,593,719 (GRCm39)	missense	probably damaging	1.00
Z1186:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1187:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1188:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1189:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1190:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1191:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25
Z1192:Kif1c	UTSW	11	70,614,940 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AATGACGAGTCTGGTTTGGTCACC -3'
(R):5'- AGTGGGCACCTTCCTCCTAACAAG -3'

Sequencing Primer
(F):5'- GCAGTAGAGGAGACAGTGCC -3'
(R):5'- ctgggctgggGCTGTTG -3'

Posted On

2014-05-09