Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Kif14'

320890

Institutional Source

Beutler Lab

Gene Symbol

Kif14

Ensembl Gene

ENSMUSG00000041498

Gene Name

kinesin family member 14

Synonyms

N-3 kinesin, D1Ertd367e

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136466343-136531511 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 136516363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1364 (C1364*)

Ref Sequence

ENSEMBL: ENSMUSP00000139698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047817] [ENSMUST00000189413] [ENSMUST00000201676]

AlphaFold

L0N7N1

PDB Structure

Crystal structure of the mouse Kif14 motor domain [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000047817
AA Change: C1314*

SMART Domains

Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: C1314*

Domain	Start	End	E-Value	Type
KISc	341	694	1.45e-180	SMART
FHA	809	861	1.46e-7	SMART
coiled coil region	911	1060	N/A	INTRINSIC
low complexity region	1169	1179	N/A	INTRINSIC
low complexity region	1548	1559	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189413
AA Change: C1364*

SMART Domains

Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: C1364*

Domain	Start	End	E-Value	Type
low complexity region	278	290	N/A	INTRINSIC
KISc	391	744	1.45e-180	SMART
FHA	859	911	1.46e-7	SMART
coiled coil region	961	1110	N/A	INTRINSIC
low complexity region	1219	1229	N/A	INTRINSIC
low complexity region	1598	1609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201676

SMART Domains

Protein: ENSMUSP00000144265
Gene: ENSMUSG00000041498

Domain	Start	End	E-Value	Type
low complexity region	278	290	N/A	INTRINSIC
KISc	391	497	3.7e-6	SMART

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation or targeted allele exhibit severe brain malformations, neurological defects and hypomyelination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529 (GRCm38)	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526 (GRCm38)	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671 (GRCm38)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137 (GRCm38)	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345 (GRCm38)	K184E	probably benign	Het
Aven	A	G	2: 112,627,768 (GRCm38)	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772 (GRCm38)	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993 (GRCm38)	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813 (GRCm38)		probably null	Het
Dmxl2	T	C	9: 54,419,909 (GRCm38)	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916 (GRCm38)	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871 (GRCm38)	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252 (GRCm38)	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189 (GRCm38)	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233 (GRCm38)		probably benign	Het
Fam71b	C	A	11: 46,407,405 (GRCm38)	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317 (GRCm38)	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966 (GRCm38)	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902 (GRCm38)	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189 (GRCm38)	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648 (GRCm38)	R319Q	probably benign	Het
Macf1	T	C	4: 123,432,392 (GRCm38)	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595 (GRCm38)	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840 (GRCm38)	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677 (GRCm38)		probably null	Het
Nfkb1	A	G	3: 135,603,770 (GRCm38)	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461 (GRCm38)	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726 (GRCm38)	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767 (GRCm38)	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948 (GRCm38)	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079 (GRCm38)	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792 (GRCm38)	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849 (GRCm38)	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644 (GRCm38)	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083 (GRCm38)	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145 (GRCm38)	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372 (GRCm38)	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587 (GRCm38)	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573 (GRCm38)	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215 (GRCm38)	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370 (GRCm38)		probably null	Het
Ttc21a	A	T	9: 119,942,618 (GRCm38)	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803 (GRCm38)	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210 (GRCm38)	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912 (GRCm38)	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587 (GRCm38)	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261 (GRCm38)	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984 (GRCm38)	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654 (GRCm38)	W1543C	possibly damaging	Het

Other mutations in Kif14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00159:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00160:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00164:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00310:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00330:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00335:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00434:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL00468:Kif14	APN	1	136,469,018 (GRCm38)	missense	probably benign	0.11
IGL01330:Kif14	APN	1	136,476,374 (GRCm38)	missense	probably damaging	0.99
IGL01530:Kif14	APN	1	136,478,419 (GRCm38)	splice site	probably benign
IGL01622:Kif14	APN	1	136,497,356 (GRCm38)	splice site	probably benign
IGL01689:Kif14	APN	1	136,519,642 (GRCm38)	missense	probably damaging	0.99
IGL02115:Kif14	APN	1	136,496,567 (GRCm38)	splice site	probably benign
IGL02252:Kif14	APN	1	136,478,392 (GRCm38)	missense	probably damaging	1.00
IGL02259:Kif14	APN	1	136,500,102 (GRCm38)	missense	probably benign
IGL02439:Kif14	APN	1	136,490,261 (GRCm38)	missense	probably damaging	1.00
IGL02590:Kif14	APN	1	136,496,004 (GRCm38)	missense	probably benign	0.00
IGL02606:Kif14	APN	1	136,496,593 (GRCm38)	missense	probably damaging	1.00
IGL03253:Kif14	APN	1	136,487,460 (GRCm38)	missense	probably damaging	0.97
R0106:Kif14	UTSW	1	136,479,924 (GRCm38)	splice site	probably benign
R0193:Kif14	UTSW	1	136,468,438 (GRCm38)	missense	probably benign	0.00
R0238:Kif14	UTSW	1	136,527,393 (GRCm38)	missense	probably damaging	0.99
R0238:Kif14	UTSW	1	136,527,393 (GRCm38)	missense	probably damaging	0.99
R0239:Kif14	UTSW	1	136,527,393 (GRCm38)	missense	probably damaging	0.99
R0239:Kif14	UTSW	1	136,527,393 (GRCm38)	missense	probably damaging	0.99
R0329:Kif14	UTSW	1	136,496,026 (GRCm38)	splice site	probably benign
R0346:Kif14	UTSW	1	136,468,160 (GRCm38)	missense	probably damaging	1.00
R0393:Kif14	UTSW	1	136,482,418 (GRCm38)	missense	probably damaging	1.00
R0519:Kif14	UTSW	1	136,469,147 (GRCm38)	missense	probably damaging	1.00
R0590:Kif14	UTSW	1	136,482,472 (GRCm38)	missense	probably damaging	0.97
R0633:Kif14	UTSW	1	136,527,305 (GRCm38)	missense	probably damaging	0.96
R0657:Kif14	UTSW	1	136,469,102 (GRCm38)	missense	probably benign	0.07
R0831:Kif14	UTSW	1	136,525,871 (GRCm38)	splice site	probably benign
R0971:Kif14	UTSW	1	136,519,654 (GRCm38)	missense	probably damaging	0.98
R1018:Kif14	UTSW	1	136,495,841 (GRCm38)	splice site	probably benign
R1520:Kif14	UTSW	1	136,503,324 (GRCm38)	missense	probably benign	0.00
R1713:Kif14	UTSW	1	136,527,464 (GRCm38)	missense	probably benign	0.00
R1728:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1728:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1728:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1728:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1728:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1728:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1728:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1729:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1729:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1729:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1729:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1729:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1729:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1729:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1730:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1730:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1730:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1730:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1730:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1730:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1730:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1739:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1739:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1739:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1739:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1739:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1739:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1739:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1762:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1762:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1762:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1762:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1762:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1762:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1762:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1783:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1783:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1783:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1783:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1783:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1783:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1783:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1784:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1784:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1784:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1784:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1784:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1784:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1784:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1785:Kif14	UTSW	1	136,468,975 (GRCm38)	missense	probably damaging	1.00
R1785:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign	0.00
R1785:Kif14	UTSW	1	136,490,332 (GRCm38)	missense	probably benign
R1785:Kif14	UTSW	1	136,503,431 (GRCm38)	missense	probably benign	0.10
R1785:Kif14	UTSW	1	136,515,961 (GRCm38)	missense	probably benign	0.04
R1785:Kif14	UTSW	1	136,525,783 (GRCm38)	missense	probably benign	0.03
R1785:Kif14	UTSW	1	136,468,279 (GRCm38)	missense	probably benign
R1872:Kif14	UTSW	1	136,486,358 (GRCm38)	missense	probably damaging	1.00
R2049:Kif14	UTSW	1	136,487,080 (GRCm38)	missense	probably benign
R2049:Kif14	UTSW	1	136,510,167 (GRCm38)	missense	possibly damaging	0.68
R2268:Kif14	UTSW	1	136,519,748 (GRCm38)	nonsense	probably null
R2373:Kif14	UTSW	1	136,479,845 (GRCm38)	missense	probably damaging	1.00
R3076:Kif14	UTSW	1	136,519,645 (GRCm38)	missense	possibly damaging	0.51
R3077:Kif14	UTSW	1	136,519,645 (GRCm38)	missense	possibly damaging	0.51
R3078:Kif14	UTSW	1	136,519,645 (GRCm38)	missense	possibly damaging	0.51
R4246:Kif14	UTSW	1	136,473,388 (GRCm38)	missense	possibly damaging	0.80
R4247:Kif14	UTSW	1	136,473,388 (GRCm38)	missense	possibly damaging	0.80
R4250:Kif14	UTSW	1	136,473,388 (GRCm38)	missense	possibly damaging	0.80
R4672:Kif14	UTSW	1	136,521,278 (GRCm38)	missense	probably benign	0.00
R4672:Kif14	UTSW	1	136,521,279 (GRCm38)	missense	probably benign
R4890:Kif14	UTSW	1	136,487,130 (GRCm38)	missense	possibly damaging	0.91
R4994:Kif14	UTSW	1	136,482,959 (GRCm38)	missense	probably damaging	1.00
R5102:Kif14	UTSW	1	136,516,403 (GRCm38)	missense	probably benign	0.00
R5185:Kif14	UTSW	1	136,527,469 (GRCm38)	nonsense	probably null
R5201:Kif14	UTSW	1	136,503,407 (GRCm38)	missense	probably benign	0.00
R5399:Kif14	UTSW	1	136,503,324 (GRCm38)	missense	probably benign	0.00
R5431:Kif14	UTSW	1	136,496,695 (GRCm38)	missense	possibly damaging	0.91
R5932:Kif14	UTSW	1	136,516,390 (GRCm38)	missense	probably benign	0.23
R6027:Kif14	UTSW	1	136,483,059 (GRCm38)	splice site	probably null
R6246:Kif14	UTSW	1	136,476,424 (GRCm38)	nonsense	probably null
R6331:Kif14	UTSW	1	136,515,986 (GRCm38)	missense	probably null	1.00
R6448:Kif14	UTSW	1	136,503,347 (GRCm38)	missense	probably damaging	0.99
R6453:Kif14	UTSW	1	136,482,304 (GRCm38)	splice site	probably null
R6475:Kif14	UTSW	1	136,527,411 (GRCm38)	missense	probably damaging	1.00
R6631:Kif14	UTSW	1	136,515,959 (GRCm38)	missense	probably benign	0.39
R6713:Kif14	UTSW	1	136,525,806 (GRCm38)	missense	probably benign
R7173:Kif14	UTSW	1	136,479,170 (GRCm38)	missense	probably damaging	0.98
R7174:Kif14	UTSW	1	136,521,257 (GRCm38)	missense	possibly damaging	0.67
R7241:Kif14	UTSW	1	136,468,753 (GRCm38)	missense	probably benign	0.41
R7674:Kif14	UTSW	1	136,468,820 (GRCm38)	missense	probably damaging	0.99
R7688:Kif14	UTSW	1	136,494,654 (GRCm38)	missense	probably damaging	1.00
R7711:Kif14	UTSW	1	136,471,453 (GRCm38)	missense	probably benign	0.10
R7722:Kif14	UTSW	1	136,468,295 (GRCm38)	missense	probably benign	0.00
R7763:Kif14	UTSW	1	136,516,383 (GRCm38)	missense	probably benign	0.00
R7882:Kif14	UTSW	1	136,516,025 (GRCm38)	missense	probably benign	0.43
R7882:Kif14	UTSW	1	136,471,576 (GRCm38)	critical splice donor site	probably null
R8077:Kif14	UTSW	1	136,471,448 (GRCm38)	missense	possibly damaging	0.87
R8101:Kif14	UTSW	1	136,476,352 (GRCm38)	missense	probably benign	0.14
R8308:Kif14	UTSW	1	136,515,913 (GRCm38)	missense	possibly damaging	0.90
R8338:Kif14	UTSW	1	136,494,678 (GRCm38)	missense	probably damaging	1.00
R8527:Kif14	UTSW	1	136,468,757 (GRCm38)	missense	possibly damaging	0.95
R8542:Kif14	UTSW	1	136,468,757 (GRCm38)	missense	possibly damaging	0.95
R8884:Kif14	UTSW	1	136,486,351 (GRCm38)	missense
R9435:Kif14	UTSW	1	136,473,436 (GRCm38)	missense	possibly damaging	0.92
R9499:Kif14	UTSW	1	136,527,481 (GRCm38)	missense	probably damaging	0.96
R9551:Kif14	UTSW	1	136,527,481 (GRCm38)	missense	probably damaging	0.96
R9577:Kif14	UTSW	1	136,471,400 (GRCm38)	missense	probably benign	0.00
X0021:Kif14	UTSW	1	136,490,276 (GRCm38)	missense	probably damaging	1.00
Z1176:Kif14	UTSW	1	136,500,016 (GRCm38)	critical splice acceptor site	probably null
Z1176:Kif14	UTSW	1	136,496,653 (GRCm38)	missense	probably damaging	0.97
Z1177:Kif14	UTSW	1	136,478,365 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTTCAATGGCAACTGTATG -3'
(R):5'- ACGGAACCAGTCTTAGGACC -3'

Sequencing Primer
(F):5'- CAATGGCAACTGTATGTGAGTTCTCC -3'
(R):5'- CCCAGAAATCCTCAGGTGTAAGTTC -3'

Posted On

2015-06-12