Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Kif1c'

190170

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

039740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1707 (G1)

Quality Score

140

Status

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: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 159,898,372 (GRCm39)		probably benign	Het
4931429P17Rik	A	G	13: 48,114,481 (GRCm39)		noncoding transcript	Het
Acox3	T	A	5: 35,758,908 (GRCm39)	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,401,192 (GRCm39)	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplp2	A	T	9: 31,062,215 (GRCm39)	H692Q	probably damaging	Het
Arhgap24	T	C	5: 103,039,953 (GRCm39)	S297P	probably benign	Het
Arhgap9	C	T	10: 127,164,758 (GRCm39)	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,291,600 (GRCm39)	D62A	probably damaging	Het
Asb14	T	G	14: 26,623,079 (GRCm39)	F150L	probably benign	Het
Atp8b3	A	T	10: 80,357,635 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 57,675,169 (GRCm39)	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,147,098 (GRCm39)		probably benign	Het
Cc2d2a	T	A	5: 43,881,030 (GRCm39)		probably null	Het
Ccin	T	A	4: 43,983,947 (GRCm39)	I118N	probably benign	Het
Cd8b1	G	A	6: 71,303,168 (GRCm39)	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,383 (GRCm39)	S717L	probably benign	Het
Cip2a	A	C	16: 48,838,767 (GRCm39)	Q861H	probably damaging	Het
Colgalt2	C	T	1: 152,276,114 (GRCm39)	R76W	probably damaging	Het
Copg1	A	T	6: 87,882,192 (GRCm39)	T596S	probably benign	Het
Cpb1	G	A	3: 20,329,655 (GRCm39)	R24W	probably damaging	Het
Csad	T	A	15: 102,088,407 (GRCm39)	D134V	probably damaging	Het
Dchs2	A	G	3: 83,034,912 (GRCm39)		probably benign	Het
Ddb2	A	G	2: 91,064,554 (GRCm39)	W119R	probably damaging	Het
Dhx57	A	T	17: 80,582,655 (GRCm39)	S317T	probably damaging	Het
Dlc1	A	G	8: 37,404,763 (GRCm39)	V342A	probably benign	Het
Dpp4	G	A	2: 62,189,679 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,206,727 (GRCm39)	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,695,150 (GRCm39)	M989V	probably benign	Het
Entr1	T	A	2: 26,277,618 (GRCm39)	N69Y	probably damaging	Het
Gm5422	G	A	10: 31,124,458 (GRCm39)		noncoding transcript	Het
Gm9944	A	G	4: 144,179,833 (GRCm39)		probably benign	Het
Gtf2ird2	T	C	5: 134,245,829 (GRCm39)	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,859,658 (GRCm39)	V217G	probably damaging	Het
Hunk	C	T	16: 90,183,295 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,285,799 (GRCm39)		probably null	Het
Ints11	T	G	4: 155,959,655 (GRCm39)	D87E	probably benign	Het
Intu	T	A	3: 40,595,073 (GRCm39)	S21T	probably benign	Het
Intu	C	A	3: 40,637,931 (GRCm39)	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985 (GRCm39)	N45K	probably benign	Het
Klrg2	C	G	6: 38,613,729 (GRCm39)	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,802,141 (GRCm39)		probably null	Het
Magi2	T	G	5: 20,420,491 (GRCm39)	M309R	probably damaging	Het
Magohb	G	A	6: 131,261,600 (GRCm39)	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504 (GRCm39)	D1043G	probably damaging	Het
Mtmr3	T	C	11: 4,454,095 (GRCm39)	D203G	probably damaging	Het
Mvp	C	T	7: 126,600,744 (GRCm39)	V86I	probably benign	Het
Naip5	A	T	13: 100,379,363 (GRCm39)	F226I	probably damaging	Het
Nasp	T	A	4: 116,476,133 (GRCm39)	Q51L	probably damaging	Het
Nf1	T	A	11: 79,426,430 (GRCm39)	F1594I	probably damaging	Het
Nod2	A	C	8: 89,397,104 (GRCm39)	E816A	possibly damaging	Het
Nom1	G	A	5: 29,640,316 (GRCm39)	S214N	probably damaging	Het
Or2l13b	T	C	16: 19,348,927 (GRCm39)	T248A	probably benign	Het
Or8c9	T	A	9: 38,241,197 (GRCm39)	F105I	probably damaging	Het
Parp14	A	C	16: 35,678,219 (GRCm39)	L583R	probably damaging	Het
Pclo	T	C	5: 14,763,238 (GRCm39)	S3904P	unknown	Het
Pkhd1	T	A	1: 20,621,064 (GRCm39)		probably benign	Het
Plaat1	A	G	16: 29,046,978 (GRCm39)	K166E	probably damaging	Het
Polr1e	A	C	4: 45,027,469 (GRCm39)	D233A	probably damaging	Het
Prr29	T	C	11: 106,267,509 (GRCm39)	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,129,028 (GRCm39)	V197E	probably damaging	Het
Rgma	A	T	7: 73,067,707 (GRCm39)	T415S	unknown	Het
Sacs	G	T	14: 61,447,211 (GRCm39)	V3086L	probably benign	Het
Sash1	A	G	10: 8,606,141 (GRCm39)	S750P	probably benign	Het
Scpppq1	T	A	5: 104,222,099 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,512 (GRCm39)	S372T	probably benign	Het
Sis	A	G	3: 72,816,420 (GRCm39)		probably benign	Het
Skint8	T	A	4: 111,796,769 (GRCm39)	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,371,377 (GRCm39)	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,490,793 (GRCm39)		probably null	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Sspo	T	A	6: 48,454,811 (GRCm39)	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,216,221 (GRCm39)	T363P	probably damaging	Het
Tenm4	A	T	7: 96,537,892 (GRCm39)	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,283,089 (GRCm39)	S293N	probably benign	Het
Tmed3	G	A	9: 89,584,833 (GRCm39)	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,086,843 (GRCm39)	T320K	possibly damaging	Het
Tnn	T	C	1: 159,972,714 (GRCm39)	Y296C	probably damaging	Het
Ttn	C	T	2: 76,620,430 (GRCm39)	A15802T	probably damaging	Het
Usp53	T	C	3: 122,741,049 (GRCm39)	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,933,497 (GRCm39)	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,581,504 (GRCm39)	V268E	probably damaging	Het
Xirp1	A	T	9: 119,847,841 (GRCm39)	H347Q	possibly 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
R1661: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
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

2014-05-14