Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Kif2c'

201599

Institutional Source

Beutler Lab

Gene Symbol

Kif2c

Ensembl Gene

ENSMUSG00000028678

Gene Name

kinesin family member 2C

Synonyms

4930402F02Rik

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117159639-117182639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117167361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 279 (Q279L)

Ref Sequence

ENSEMBL: ENSMUSP00000102044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436]

AlphaFold

Q922S8

Predicted Effect

probably benign
Transcript: ENSMUST00000065896
AA Change: Q330L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: Q330L

Domain	Start	End	E-Value	Type
low complexity region	192	205	N/A	INTRINSIC
KISc	252	590	1.04e-131	SMART
coiled coil region	615	647	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106436
AA Change: Q279L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: Q279L

Domain	Start	End	E-Value	Type
low complexity region	141	154	N/A	INTRINSIC
KISc	201	539	1.04e-131	SMART
coiled coil region	564	596	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132868

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951 (GRCm38)	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393 (GRCm38)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115 (GRCm38)	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126 (GRCm38)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165 (GRCm38)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005 (GRCm38)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870 (GRCm38)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067 (GRCm38)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560 (GRCm38)	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450 (GRCm38)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808 (GRCm38)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993 (GRCm38)		probably null	Het
Chrna5	T	C	9: 55,004,651 (GRCm38)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921 (GRCm38)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305 (GRCm38)		probably null	Het
Col5a2	T	C	1: 45,394,776 (GRCm38)	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146 (GRCm38)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395 (GRCm38)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780 (GRCm38)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426 (GRCm38)	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919 (GRCm38)	Y478H	probably damaging	Het
Fam237b	A	T	5: 5,575,652 (GRCm38)	Q116L	possibly damaging	Het
Fat3	T	C	9: 16,376,985 (GRCm38)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm38)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562 (GRCm38)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735 (GRCm38)	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584 (GRCm38)	R404S	probably benign	Het
Gpd1	T	G	15: 99,723,202 (GRCm38)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057 (GRCm38)		probably benign	Het
Grin3b	T	C	10: 79,973,408 (GRCm38)	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718 (GRCm38)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781 (GRCm38)	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933 (GRCm38)	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512 (GRCm38)		probably null	Het
Itgb8	T	C	12: 119,202,455 (GRCm38)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384 (GRCm38)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008 (GRCm38)	L439P	probably damaging	Het
Kmt2d	A	T	15: 98,852,074 (GRCm38)		probably benign	Het
L3mbtl1	A	G	2: 162,974,502 (GRCm38)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578 (GRCm38)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622 (GRCm38)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345 (GRCm38)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670 (GRCm38)		probably null	Het
Myo10	T	G	15: 25,726,525 (GRCm38)		probably null	Het
Myo1e	T	A	9: 70,338,784 (GRCm38)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572 (GRCm38)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095 (GRCm38)	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127 (GRCm38)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003 (GRCm38)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556 (GRCm38)	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890 (GRCm38)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431 (GRCm38)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490 (GRCm38)	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725 (GRCm38)	S126C	probably damaging	Het
Or2g7	T	C	17: 38,067,948 (GRCm38)	I259T	probably damaging	Het
Or5p60	A	G	7: 108,124,915 (GRCm38)	F116S	probably benign	Het
Or5w10	A	T	2: 87,544,983 (GRCm38)	L187H	probably damaging	Het
Or6c219	A	T	10: 129,945,582 (GRCm38)	L160*	probably null	Het
Or6c6c	T	C	10: 129,705,607 (GRCm38)	M243T	possibly damaging	Het
Or6d15	A	C	6: 116,582,697 (GRCm38)	F83C	probably damaging	Het
Pdzd7	A	G	19: 45,039,228 (GRCm38)	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206 (GRCm38)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754 (GRCm38)	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632 (GRCm38)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524 (GRCm38)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536 (GRCm38)	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730 (GRCm38)	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565 (GRCm38)	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799 (GRCm38)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073 (GRCm38)	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221 (GRCm38)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273 (GRCm38)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242 (GRCm38)	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798 (GRCm38)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360 (GRCm38)	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219 (GRCm38)	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459 (GRCm38)		probably benign	Het
Spag17	T	A	3: 99,939,356 (GRCm38)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488 (GRCm38)		probably benign	Het
Stil	T	A	4: 115,041,782 (GRCm38)	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838 (GRCm38)	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246 (GRCm38)	Q478*	probably null	Het
Tg	A	T	15: 66,737,548 (GRCm38)	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033 (GRCm38)	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034 (GRCm38)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364 (GRCm38)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635 (GRCm38)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947 (GRCm38)	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780 (GRCm38)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993 (GRCm38)	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367 (GRCm38)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053 (GRCm38)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339 (GRCm38)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123 (GRCm38)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600 (GRCm38)	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525 (GRCm38)	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435 (GRCm38)		probably null	Het
Zfp277	A	G	12: 40,364,085 (GRCm38)	F254L	probably benign	Het

Other mutations in Kif2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Kif2c	APN	4	117,178,246 (GRCm38)	missense	probably benign	0.01
IGL01020:Kif2c	APN	4	117,166,904 (GRCm38)	missense	probably damaging	1.00
IGL01131:Kif2c	APN	4	117,172,365 (GRCm38)	missense	probably damaging	1.00
IGL02131:Kif2c	APN	4	117,177,953 (GRCm38)	missense	possibly damaging	0.88
IGL02455:Kif2c	APN	4	117,172,354 (GRCm38)	missense	probably benign
IGL02556:Kif2c	APN	4	117,162,605 (GRCm38)	missense	probably damaging	0.98
IGL03084:Kif2c	APN	4	117,178,158 (GRCm38)	missense	possibly damaging	0.67
IGL03333:Kif2c	APN	4	117,180,636 (GRCm38)	missense	possibly damaging	0.87
IGL03353:Kif2c	APN	4	117,166,336 (GRCm38)	missense	probably benign	0.19
R0025:Kif2c	UTSW	4	117,165,517 (GRCm38)	missense	probably damaging	1.00
R0466:Kif2c	UTSW	4	117,172,292 (GRCm38)	missense	possibly damaging	0.83
R1069:Kif2c	UTSW	4	117,178,153 (GRCm38)	missense	probably damaging	0.97
R1519:Kif2c	UTSW	4	117,169,940 (GRCm38)	missense	probably damaging	1.00
R1594:Kif2c	UTSW	4	117,178,188 (GRCm38)	missense	probably benign	0.02
R1894:Kif2c	UTSW	4	117,162,223 (GRCm38)	missense	probably benign	0.02
R2340:Kif2c	UTSW	4	117,169,841 (GRCm38)	missense	probably damaging	1.00
R2830:Kif2c	UTSW	4	117,182,448 (GRCm38)	splice site	probably null
R3734:Kif2c	UTSW	4	117,162,646 (GRCm38)	missense	probably benign	0.02
R4634:Kif2c	UTSW	4	117,178,240 (GRCm38)	missense	probably benign	0.04
R4720:Kif2c	UTSW	4	117,171,749 (GRCm38)	missense	probably benign
R4908:Kif2c	UTSW	4	117,166,411 (GRCm38)	missense	probably damaging	1.00
R5076:Kif2c	UTSW	4	117,174,869 (GRCm38)	unclassified	probably benign
R5855:Kif2c	UTSW	4	117,182,542 (GRCm38)	unclassified	probably benign
R6766:Kif2c	UTSW	4	117,167,083 (GRCm38)	missense	probably benign
R6767:Kif2c	UTSW	4	117,178,188 (GRCm38)	missense	probably benign	0.00
R6942:Kif2c	UTSW	4	117,166,378 (GRCm38)	missense	probably damaging	1.00
R7378:Kif2c	UTSW	4	117,162,029 (GRCm38)	missense	possibly damaging	0.46
R7526:Kif2c	UTSW	4	117,182,432 (GRCm38)	missense	possibly damaging	0.46
R7797:Kif2c	UTSW	4	117,171,743 (GRCm38)	missense	probably benign	0.00
R8087:Kif2c	UTSW	4	117,165,418 (GRCm38)	missense	possibly damaging	0.92
R9123:Kif2c	UTSW	4	117,167,094 (GRCm38)	missense	probably benign	0.09
R9319:Kif2c	UTSW	4	117,178,248 (GRCm38)	critical splice acceptor site	probably null
U24488:Kif2c	UTSW	4	117,182,442 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGCCCCTCTCTGCATCTG -3'
(R):5'- GGAAAATACTTACTTCCGAAAGAGCG -3'

Sequencing Primer
(F):5'- GCATCTGGCATGGCAAATG -3'
(R):5'- TTCCCCCTGAACAGTAGAGTGTAAG -3'

Posted On

2014-06-23