Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Kif1c'

253756

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

040459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70700548-70731964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70724081 bp (GRCm38)

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: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Kif1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Kif1c	APN	11	70724134	splice site	probably null
IGL00817:Kif1c	APN	11	70705253	missense	probably benign	0.25
IGL00849:Kif1c	APN	11	70706127	missense	probably damaging	1.00
IGL01988:Kif1c	APN	11	70704936	missense	probably damaging	1.00
IGL02683:Kif1c	APN	11	70726452	missense	possibly damaging	0.85
IGL03024:Kif1c	APN	11	70705189	missense	probably damaging	1.00
R0570:Kif1c	UTSW	11	70704465	missense	probably damaging	0.96
R0647:Kif1c	UTSW	11	70726141	missense	probably damaging	1.00
R0710:Kif1c	UTSW	11	70726497	missense	probably benign
R1112:Kif1c	UTSW	11	70724815	splice site	probably null
R1199:Kif1c	UTSW	11	70708601	missense	possibly damaging	0.69
R1514:Kif1c	UTSW	11	70705729	missense	probably damaging	1.00
R1660:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1661:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1666:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1669:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1707:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1708:Kif1c	UTSW	11	70728397	missense	probably damaging	0.99
R1835:Kif1c	UTSW	11	70708971	missense	probably damaging	0.99
R1861:Kif1c	UTSW	11	70703342	missense	probably damaging	1.00
R2870:Kif1c	UTSW	11	70724081	missense	probably damaging	0.99
R2870:Kif1c	UTSW	11	70724081	missense	probably damaging	0.99
R2871:Kif1c	UTSW	11	70724081	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70724081	missense	probably damaging	0.99
R2872:Kif1c	UTSW	11	70724081	missense	probably damaging	0.99
R2927:Kif1c	UTSW	11	70726314	missense	probably benign
R3720:Kif1c	UTSW	11	70703771	missense	possibly damaging	0.94
R4809:Kif1c	UTSW	11	70726357	missense	probably benign	0.10
R4914:Kif1c	UTSW	11	70708855	missense	probably damaging	0.99
R5642:Kif1c	UTSW	11	70708447	missense	probably benign	0.14
R5788:Kif1c	UTSW	11	70708828	missense	probably damaging	1.00
R5861:Kif1c	UTSW	11	70703795	missense	probably damaging	1.00
R6918:Kif1c	UTSW	11	70706987	missense	probably damaging	1.00
R7456:Kif1c	UTSW	11	70728598	missense	probably benign	0.00
R7857:Kif1c	UTSW	11	70728277	missense	probably benign
R8841:Kif1c	UTSW	11	70724833	missense	probably benign	0.02
R9004:Kif1c	UTSW	11	70725132	missense	probably benign	0.30
R9117:Kif1c	UTSW	11	70704972	missense	probably damaging	1.00
R9714:Kif1c	UTSW	11	70724834	missense	probably benign	0.29
Z1177:Kif1c	UTSW	11	70702893	missense	probably damaging	1.00
Z1186:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1187:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1188:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1189:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1190:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1191:Kif1c	UTSW	11	70724114	missense	probably benign	0.25
Z1192:Kif1c	UTSW	11	70724114	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

2014-12-04