Mutagenetix > Incidental Mutations

Incidental Mutation 'R5543:Kifc2'

436122

Institutional Source

Beutler Lab

Gene Symbol

Kifc2

Ensembl Gene

ENSMUSG00000004187

Gene Name

kinesin family member C2

Synonyms

MMRRC Submission

043101-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5543 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

76659858-76668196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76667042 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 679 (R679G)

Ref Sequence

ENSEMBL: ENSMUSP00000004294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000037551] [ENSMUST00000037824] [ENSMUST00000135388] [ENSMUST00000230451] [ENSMUST00000230964]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004294
AA Change: R679G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: R679G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	36	45	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
coiled coil region	195	235	N/A	INTRINSIC
coiled coil region	274	345	N/A	INTRINSIC
KISc	407	740	3.21e-141	SMART
low complexity region	745	781	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037551

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

Domain	Start	End	E-Value	Type
ANK	70	99	2.5e3	SMART
ANK	103	132	3.41e-3	SMART
ANK	136	165	2.66e-5	SMART
ANK	231	260	2.58e-3	SMART
ANK	264	293	4.03e-5	SMART
low complexity region	323	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037824

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837

Domain	Start	End	E-Value	Type
FH	62	152	2.71e-34	SMART
low complexity region	183	194	N/A	INTRINSIC
low complexity region	331	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230207

Predicted Effect

probably damaging
Transcript: ENSMUST00000230451
AA Change: R594G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 128,237,181	S80I	probably benign	Het
Aak1	T	C	6: 86,982,645		probably null	Het
Abcc6	A	G	7: 45,989,536		probably null	Het
Acvr1	A	G	2: 58,463,145	S268P	probably damaging	Het
Apod	T	C	16: 31,303,533		probably null	Het
Atp5o	T	C	16: 91,926,530	I58V	probably benign	Het
AU040320	C	T	4: 126,841,224	T777M	probably damaging	Het
BC067074	C	A	13: 113,320,873	T1151K	probably damaging	Het
Ccne2	A	T	4: 11,194,026	N89I	probably benign	Het
Dnah7a	A	G	1: 53,504,069	V2314A	probably damaging	Het
Dopey2	T	C	16: 93,798,920	S1881P	probably damaging	Het
E4f1	A	G	17: 24,447,362	V24A	possibly damaging	Het
Esrrg	A	T	1: 188,150,254	D236V	probably damaging	Het
Fam240b	T	A	13: 64,485,922	I27F	possibly damaging	Het
Fat1	T	A	8: 45,023,479	I1854N	probably damaging	Het
Fchsd2	T	C	7: 101,271,699	Y480H	probably damaging	Het
Fras1	A	G	5: 96,528,535	N47S	probably benign	Het
Gabrr3	T	C	16: 59,433,507	S196P	probably damaging	Het
Gbp8	T	A	5: 105,017,830	D319V	possibly damaging	Het
Hrh3	G	T	2: 180,103,970	A61E	probably damaging	Het
Idua	T	C	5: 108,670,229	I89T	probably benign	Het
Ifitm3	T	A	7: 141,009,817	I108F	unknown	Het
Izumo4	T	C	10: 80,702,834	F40S	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Ldha	A	T	7: 46,850,890	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,612,163	S609G	probably benign	Het
Mmp15	T	C	8: 95,368,101	F201S	possibly damaging	Het
Myof	C	T	19: 37,981,330	V295I	probably benign	Het
Olfr1024	G	T	2: 85,904,328	A242D	probably damaging	Het
Olfr30	T	A	11: 58,455,167	M261L	probably damaging	Het
Olfr354	C	T	2: 36,907,357	T137I	possibly damaging	Het
Parp14	T	C	16: 35,834,767	D1778G	probably benign	Het
Pcnt	A	T	10: 76,412,052	D969E	probably benign	Het
Pibf1	A	T	14: 99,112,992	N192I	probably benign	Het
Pitpnm3	A	G	11: 72,056,197	F792S	probably damaging	Het
Pkd2	T	A	5: 104,489,333	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,161,143	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,864,774	D643E	probably benign	Het
Prrc2c	G	A	1: 162,673,511	P1241L	probably damaging	Het
Ptprd	T	C	4: 76,059,753	E173G	probably damaging	Het
Shank3	T	C	15: 89,532,354	V232A	probably damaging	Het
Shbg	A	G	11: 69,616,738	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,173,608	F404L	probably benign	Het
Slc37a3	C	A	6: 39,355,026	G158C	probably damaging	Het
Slfn9	C	A	11: 82,982,381	L565F	probably damaging	Het
Tex43	G	A	18: 56,594,688		probably benign	Het
Trank1	T	A	9: 111,366,112	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,141,253	I15L	probably benign	Het
Ttn	C	T	2: 76,739,574	V26992M	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,701	I74F	probably damaging	Het
Vamp3	A	G	4: 151,051,020	L47P	probably damaging	Het
Zfp143	T	A	7: 110,083,315	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761	E399G	probably damaging	Het

Other mutations in Kifc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kifc2	APN	15	76667462	utr 3 prime	probably benign
IGL01341:Kifc2	APN	15	76662898	critical splice donor site	probably null
IGL02161:Kifc2	APN	15	76666045	missense	probably damaging	1.00
IGL02675:Kifc2	APN	15	76662979	missense	probably damaging	1.00
IGL02997:Kifc2	APN	15	76664339	missense	possibly damaging	0.83
R0034:Kifc2	UTSW	15	76667100	missense	probably benign	0.18
R1818:Kifc2	UTSW	15	76666081	missense	probably damaging	1.00
R1961:Kifc2	UTSW	15	76662825	missense	probably damaging	1.00
R2104:Kifc2	UTSW	15	76661254	missense	probably damaging	0.99
R2149:Kifc2	UTSW	15	76662221	missense	probably benign	0.00
R3086:Kifc2	UTSW	15	76667252	missense	probably benign	0.01
R4704:Kifc2	UTSW	15	76662977	unclassified	probably null
R4782:Kifc2	UTSW	15	76664348	missense	possibly damaging	0.89
R4834:Kifc2	UTSW	15	76661311	start codon destroyed	probably null	0.48
R5085:Kifc2	UTSW	15	76661296	missense	probably damaging	1.00
R5160:Kifc2	UTSW	15	76662977	missense	probably damaging	1.00
R5253:Kifc2	UTSW	15	76666281	missense	possibly damaging	0.94
R5786:Kifc2	UTSW	15	76664378	missense	probably damaging	1.00
R5805:Kifc2	UTSW	15	76662153	missense	probably benign	0.00
R7290:Kifc2	UTSW	15	76660704	missense	probably damaging	1.00
R7311:Kifc2	UTSW	15	76662810	missense	probably damaging	1.00
R7511:Kifc2	UTSW	15	76661337	missense	possibly damaging	0.50
R7782:Kifc2	UTSW	15	76664128	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGTCTCCTCCACATCCG -3'
(R):5'- TTGAGCGAGCAGATGGTCTC -3'

Sequencing Primer
(F):5'- CGGTTCATTTGCCCTGCAGG -3'
(R):5'- AGATGGTCTCCCCGAGATC -3'

Posted On

2016-10-24