Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Kif1c'

266688

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

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70591374-70622790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70614907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 567 (E567G)

Ref Sequence

ENSEMBL: ENSMUSP00000123242 (fasta)

Gene Model

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

AlphaFold

O35071

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072187
AA Change: E567G

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: E567G

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: E567G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: E567G

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: E567G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: E567G

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: E567G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: E567G

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

0.4007

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
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'- TTCTGGGAGTCACAGTAGGG -3'
(R):5'- ACCTGTACTCTGTAACACAGC -3'

Sequencing Primer
(F):5'- GAGTCACAGTAGGGTCTCTAAC -3'
(R):5'- TGTACTCTGTAACACAGCTTTTG -3'

Posted On

2015-02-18