Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Kifc2'

356323

Institutional Source

Beutler Lab

Gene Symbol

Kifc2

Ensembl Gene

ENSMUSG00000004187

Gene Name

kinesin family member C2

Synonyms

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76544058-76552396 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 76547177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000066677] [ENSMUST00000081291] [ENSMUST00000177359] [ENSMUST00000230451] [ENSMUST00000231152] [ENSMUST00000230964]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004294
AA Change: L336P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: L336P

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 null
Transcript: ENSMUST00000066677

SMART Domains

Protein: ENSMUSP00000063317
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000081291

SMART Domains

Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
SCOP:d1jm7a_	21	88	3e-5	SMART
Blast:RING	27	62	8e-15	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000177359

SMART Domains

Protein: ENSMUSP00000135505
Gene: ENSMUSG00000053929

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
transmembrane domain	35	52	N/A	INTRINSIC
transmembrane domain	62	84	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Predicted Effect

probably damaging
Transcript: ENSMUST00000230451
AA Change: L251P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably null
Transcript: ENSMUST00000231152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230719

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Meta Mutation Damage Score

0.2390

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably damaging	Het

Other mutations in Kifc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kifc2	APN	15	76,551,662 (GRCm39)	utr 3 prime	probably benign
IGL01341:Kifc2	APN	15	76,547,098 (GRCm39)	critical splice donor site	probably null
IGL02161:Kifc2	APN	15	76,550,245 (GRCm39)	missense	probably damaging	1.00
IGL02675:Kifc2	APN	15	76,547,179 (GRCm39)	missense	probably damaging	1.00
IGL02997:Kifc2	APN	15	76,548,539 (GRCm39)	missense	possibly damaging	0.83
R0034:Kifc2	UTSW	15	76,551,300 (GRCm39)	missense	probably benign	0.18
R1818:Kifc2	UTSW	15	76,550,281 (GRCm39)	missense	probably damaging	1.00
R1961:Kifc2	UTSW	15	76,547,025 (GRCm39)	missense	probably damaging	1.00
R2104:Kifc2	UTSW	15	76,545,454 (GRCm39)	missense	probably damaging	0.99
R2149:Kifc2	UTSW	15	76,546,421 (GRCm39)	missense	probably benign	0.00
R3086:Kifc2	UTSW	15	76,551,452 (GRCm39)	missense	probably benign	0.01
R4782:Kifc2	UTSW	15	76,548,548 (GRCm39)	missense	possibly damaging	0.89
R4834:Kifc2	UTSW	15	76,545,511 (GRCm39)	start codon destroyed	probably null	0.48
R5085:Kifc2	UTSW	15	76,545,496 (GRCm39)	missense	probably damaging	1.00
R5160:Kifc2	UTSW	15	76,547,177 (GRCm39)	missense	probably damaging	1.00
R5253:Kifc2	UTSW	15	76,550,481 (GRCm39)	missense	possibly damaging	0.94
R5543:Kifc2	UTSW	15	76,551,242 (GRCm39)	missense	probably damaging	0.99
R5786:Kifc2	UTSW	15	76,548,578 (GRCm39)	missense	probably damaging	1.00
R5805:Kifc2	UTSW	15	76,546,353 (GRCm39)	missense	probably benign	0.00
R7290:Kifc2	UTSW	15	76,544,904 (GRCm39)	missense	probably damaging	1.00
R7311:Kifc2	UTSW	15	76,547,010 (GRCm39)	missense	probably damaging	1.00
R7511:Kifc2	UTSW	15	76,545,537 (GRCm39)	missense	possibly damaging	0.50
R7782:Kifc2	UTSW	15	76,548,328 (GRCm39)	missense	probably benign	0.00
R8816:Kifc2	UTSW	15	76,548,371 (GRCm39)	missense	probably damaging	1.00
R8834:Kifc2	UTSW	15	76,551,250 (GRCm39)	missense	probably damaging	1.00
R9010:Kifc2	UTSW	15	76,550,885 (GRCm39)	missense	possibly damaging	0.69
R9574:Kifc2	UTSW	15	76,546,397 (GRCm39)	missense	probably damaging	1.00
Z1177:Kifc2	UTSW	15	76,545,488 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTCCTCAGTGACAGAAGTGGG -3'
(R):5'- AACAGTAACAGAGGCTCCCCTG -3'

Sequencing Primer
(F):5'- TCAGTGACAGAAGTGGGCTTGG -3'
(R):5'- TGGGACAGACAGTGCACAGAC -3'

Posted On

2015-10-21