Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Kif1c'

370923

Institutional Source

Beutler Lab

Gene Symbol

Kif1c

Ensembl Gene

ENSMUSG00000020821

Gene Name

kinesin family member 1C

Synonyms

B430105J22Rik, D11Bwg1349e, Orch3, N-3 kinsin

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70700548-70731964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70726357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 839 (A839V)

Ref Sequence

ENSEMBL: ENSMUSP00000072048 (fasta)

Gene Model

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

AlphaFold

O35071

Predicted Effect

probably benign
Transcript: ENSMUST00000072187
AA Change: A839V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: A839V

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 benign
Transcript: ENSMUST00000094499
AA Change: A827V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: A827V

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 benign
Transcript: ENSMUST00000102554
AA Change: A827V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: A827V

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 benign
Transcript: ENSMUST00000137119
AA Change: A827V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: A827V

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

0.0602

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631 (GRCm38)	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856 (GRCm38)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,800,242 (GRCm38)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690 (GRCm38)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479 (GRCm38)	W200*	probably null	Het
AI661453	C	A	17: 47,467,187 (GRCm38)		probably benign	Het
Aldh1l2	A	G	10: 83,506,632 (GRCm38)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214 (GRCm38)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566 (GRCm38)	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649 (GRCm38)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214 (GRCm38)		probably benign	Het
Arhgap42	A	G	9: 9,180,117 (GRCm38)	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139 (GRCm38)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744 (GRCm38)		probably null	Het
Cabp4	T	C	19: 4,139,291 (GRCm38)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570 (GRCm38)		probably benign	Het
Chfr	C	T	5: 110,158,834 (GRCm38)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897 (GRCm38)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250 (GRCm38)	T113I	probably benign	Het
Col12a1	T	A	9: 79,693,567 (GRCm38)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,998,661 (GRCm38)	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426 (GRCm38)	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842 (GRCm38)		probably benign	Het
Cts6	A	T	13: 61,202,181 (GRCm38)	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343 (GRCm38)	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807 (GRCm38)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014 (GRCm38)		probably null	Het
Dnmt3a	A	T	12: 3,900,352 (GRCm38)	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596 (GRCm38)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621 (GRCm38)	T765S	possibly damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Fam189a1	G	A	7: 64,776,740 (GRCm38)	T159I	probably damaging	Het
Fam227b	T	A	2: 126,116,125 (GRCm38)	Y240F	possibly damaging	Het
Fbxw21	C	T	9: 109,143,390 (GRCm38)	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800 (GRCm38)		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421 (GRCm38)	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895 (GRCm38)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gjd2	C	T	2: 114,011,541 (GRCm38)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154 (GRCm38)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436 (GRCm38)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823 (GRCm38)	R40W	unknown	Het
Krt31	G	A	11: 100,049,922 (GRCm38)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526 (GRCm38)	Y163C	probably damaging	Het
Mars	G	T	10: 127,300,215 (GRCm38)	T535K	probably damaging	Het
Mdc1	T	C	17: 35,849,101 (GRCm38)		probably null	Het
Micu1	C	T	10: 59,740,822 (GRCm38)	H167Y	probably benign	Het
Minos1	C	G	4: 139,130,957 (GRCm38)	W10S	probably damaging	Het
Mrgprb1	C	T	7: 48,447,991 (GRCm38)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762 (GRCm38)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160 (GRCm38)		probably benign	Het
Olfr1085	T	A	2: 86,657,685 (GRCm38)	M258L	possibly damaging	Het
Olfr1294	C	T	2: 111,537,611 (GRCm38)	C226Y	probably benign	Het
Olfr46	A	G	7: 140,611,074 (GRCm38)	K295E	probably damaging	Het
Olfr598	T	A	7: 103,328,523 (GRCm38)	Y12*	probably null	Het
Pex16	T	C	2: 92,376,638 (GRCm38)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081 (GRCm38)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855 (GRCm38)	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708 (GRCm38)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175 (GRCm38)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974 (GRCm38)		probably benign	Het
Rcc2	G	A	4: 140,717,042 (GRCm38)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,105,949 (GRCm38)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,101,965 (GRCm38)		probably benign	Het
Scn11a	G	T	9: 119,819,870 (GRCm38)	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173 (GRCm38)	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375 (GRCm38)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474 (GRCm38)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002 (GRCm38)	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120 (GRCm38)		probably null	Het
Stim2	T	C	5: 54,110,613 (GRCm38)	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985 (GRCm38)	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946 (GRCm38)	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930 (GRCm38)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256 (GRCm38)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021 (GRCm38)	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842 (GRCm38)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676 (GRCm38)		probably null	Het
Usp36	A	C	11: 118,263,070 (GRCm38)	L840R	probably damaging	Het
Usp50	C	A	2: 126,777,853 (GRCm38)		probably benign	Het
Vangl2	A	G	1: 172,009,663 (GRCm38)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867 (GRCm38)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745 (GRCm38)	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445 (GRCm38)	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292 (GRCm38)	E112*	probably null	Het

Other mutations in Kif1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Kif1c	APN	11	70,724,134 (GRCm38)	splice site	probably null
IGL00817:Kif1c	APN	11	70,705,253 (GRCm38)	missense	probably benign	0.25
IGL00849:Kif1c	APN	11	70,706,127 (GRCm38)	missense	probably damaging	1.00
IGL01988:Kif1c	APN	11	70,704,936 (GRCm38)	missense	probably damaging	1.00
IGL02683:Kif1c	APN	11	70,726,452 (GRCm38)	missense	possibly damaging	0.85
IGL03024:Kif1c	APN	11	70,705,189 (GRCm38)	missense	probably damaging	1.00
R0570:Kif1c	UTSW	11	70,704,465 (GRCm38)	missense	probably damaging	0.96
R0647:Kif1c	UTSW	11	70,726,141 (GRCm38)	missense	probably damaging	1.00
R0710:Kif1c	UTSW	11	70,726,497 (GRCm38)	missense	probably benign
R1112:Kif1c	UTSW	11	70,724,815 (GRCm38)	splice site	probably null
R1199:Kif1c	UTSW	11	70,708,601 (GRCm38)	missense	possibly damaging	0.69
R1514:Kif1c	UTSW	11	70,705,729 (GRCm38)	missense	probably damaging	1.00
R1660:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1661:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1666:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1669:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1707:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1708:Kif1c	UTSW	11	70,728,397 (GRCm38)	missense	probably damaging	0.99
R1835:Kif1c	UTSW	11	70,708,971 (GRCm38)	missense	probably damaging	0.99
R1861:Kif1c	UTSW	11	70,703,342 (GRCm38)	missense	probably damaging	1.00
R2870:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2870:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2871:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2871:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70,724,081 (GRCm38)	missense	probably damaging	0.99
R2927:Kif1c	UTSW	11	70,726,314 (GRCm38)	missense	probably benign
R3720:Kif1c	UTSW	11	70,703,771 (GRCm38)	missense	possibly damaging	0.94
R4914:Kif1c	UTSW	11	70,708,855 (GRCm38)	missense	probably damaging	0.99
R5642:Kif1c	UTSW	11	70,708,447 (GRCm38)	missense	probably benign	0.14
R5788:Kif1c	UTSW	11	70,708,828 (GRCm38)	missense	probably damaging	1.00
R5861:Kif1c	UTSW	11	70,703,795 (GRCm38)	missense	probably damaging	1.00
R6918:Kif1c	UTSW	11	70,706,987 (GRCm38)	missense	probably damaging	1.00
R7456:Kif1c	UTSW	11	70,728,598 (GRCm38)	missense	probably benign	0.00
R7857:Kif1c	UTSW	11	70,728,277 (GRCm38)	missense	probably benign
R8841:Kif1c	UTSW	11	70,724,833 (GRCm38)	missense	probably benign	0.02
R9004:Kif1c	UTSW	11	70,725,132 (GRCm38)	missense	probably benign	0.30
R9117:Kif1c	UTSW	11	70,704,972 (GRCm38)	missense	probably damaging	1.00
R9714:Kif1c	UTSW	11	70,724,834 (GRCm38)	missense	probably benign	0.29
Z1177:Kif1c	UTSW	11	70,702,893 (GRCm38)	missense	probably damaging	1.00
Z1186:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1187:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1188:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1189:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1190:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1191:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25
Z1192:Kif1c	UTSW	11	70,724,114 (GRCm38)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATGCTATGAGGTGGCCCTAG -3'
(R):5'- GGCTGCAGGATCCTAATAGG -3'

Sequencing Primer
(F):5'- TAGCCGACTTCCGCCAC -3'
(R):5'- CAGGATCCTAATAGGCGGGC -3'

Posted On

2016-02-04