Mutagenetix > Incidental Mutation

Incidental Mutation 'R7882:Kif14'

608801

Institutional Source

Beutler Lab

Gene Symbol

Kif14

Ensembl Gene

ENSMUSG00000041498

Gene Name

kinesin family member 14

Synonyms

N-3 kinesin, D1Ertd367e

MMRRC Submission

045934-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136394081-136459249 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 136399314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047817] [ENSMUST00000189413] [ENSMUST00000195274] [ENSMUST00000201676]

AlphaFold

L0N7N1

PDB Structure

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

Predicted Effect

probably null
Transcript: ENSMUST00000047817

SMART Domains

Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498

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

SMART Domains

Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498

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: ENSMUST00000195274

SMART Domains

Protein: ENSMUSP00000142040
Gene: ENSMUSG00000041498

Domain	Start	End	E-Value	Type
Pfam:Kinesin	29	69	3.7e-12	PFAM

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,644,250 (GRCm39)	E110*	probably null	Het
Adad1	G	T	3: 37,133,951 (GRCm39)	V289F	probably damaging	Het
Adgra2	A	G	8: 27,607,440 (GRCm39)	D717G	probably benign	Het
Arid3b	T	C	9: 57,703,780 (GRCm39)	I389M	possibly damaging	Het
Axdnd1	A	G	1: 156,225,023 (GRCm39)	V47A		Het
Cachd1	T	A	4: 100,824,244 (GRCm39)	L562M	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccpg1	T	C	9: 72,922,787 (GRCm39)	F799S	probably damaging	Het
Ces1c	T	C	8: 93,833,231 (GRCm39)	I411M	probably benign	Het
Cgn	T	G	3: 94,669,941 (GRCm39)	K1066N	probably damaging	Het
Cntn4	A	G	6: 106,330,684 (GRCm39)	I101V	probably benign	Het
Cntrl	A	G	2: 35,060,592 (GRCm39)	E1928G	probably benign	Het
Cxcl12	A	G	6: 117,148,464 (GRCm39)	Y28C	probably damaging	Het
Cyp2r1	A	T	7: 114,153,824 (GRCm39)		probably null	Het
D430041D05Rik	C	T	2: 104,087,974 (GRCm39)	W334*	probably null	Het
Dsp	G	A	13: 38,367,994 (GRCm39)	R671Q	possibly damaging	Het
Fancm	A	G	12: 65,173,568 (GRCm39)	K1960R	probably benign	Het
Fgd5	T	A	6: 92,045,459 (GRCm39)	Y1331N	probably damaging	Het
Ina	G	A	19: 47,004,100 (GRCm39)	E303K		Het
Kctd3	C	A	1: 188,715,243 (GRCm39)	V369F	possibly damaging	Het
Krt84	T	C	15: 101,436,826 (GRCm39)	I403V	probably benign	Het
Krtap9-1	A	C	11: 99,764,356 (GRCm39)	T31P	unknown	Het
Lyrm9	A	T	11: 78,728,967 (GRCm39)	I60F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mmp28	T	C	11: 83,334,752 (GRCm39)	D334G	probably damaging	Het
Nr1h5	T	C	3: 102,856,931 (GRCm39)	T194A	possibly damaging	Het
Nrf1	A	G	6: 30,090,299 (GRCm39)	I85M	probably benign	Het
Nrp2	C	T	1: 62,822,680 (GRCm39)	R758C	probably damaging	Het
Or5b116	A	T	19: 13,422,951 (GRCm39)	T192S	probably benign	Het
Pcdhga4	A	G	18: 37,819,681 (GRCm39)	D410G	probably damaging	Het
Pld1	T	C	3: 28,099,158 (GRCm39)	V275A	probably damaging	Het
Plxnc1	A	T	10: 94,679,698 (GRCm39)	F895I	probably benign	Het
Polr2a	A	G	11: 69,627,000 (GRCm39)	I1486T	possibly damaging	Het
Ptprz1	A	G	6: 23,002,256 (GRCm39)	M1449V	probably benign	Het
Rspo4	C	A	2: 151,711,746 (GRCm39)	T156N	probably damaging	Het
Sacs	A	G	14: 61,444,520 (GRCm39)	I2189V	probably benign	Het
Stat5b	A	C	11: 100,674,601 (GRCm39)	F711V	possibly damaging	Het
Stk11ip	C	A	1: 75,506,108 (GRCm39)	Q543K	probably benign	Het
Tarbp1	G	A	8: 127,183,232 (GRCm39)	T529M	probably damaging	Het
Thada	A	T	17: 84,736,624 (GRCm39)	C886S	possibly damaging	Het
Tmem19	A	G	10: 115,179,608 (GRCm39)	F296S	probably benign	Het
Tnfsf13b	A	G	8: 10,057,078 (GRCm39)	N79S	not run	Het
Vdac3	C	A	8: 23,069,073 (GRCm39)	G214C	probably damaging	Het
Vmn2r18	A	C	5: 151,485,329 (GRCm39)	F722V	probably damaging	Het
Vmn2r45	A	G	7: 8,486,409 (GRCm39)	L293S	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Xpot	A	G	10: 121,454,996 (GRCm39)		probably null	Het
Zfp526	G	A	7: 24,920,860 (GRCm39)		probably benign	Het
Zfp532	A	G	18: 65,756,561 (GRCm39)	T165A	probably benign	Het

Other mutations in Kif14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00159:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00160:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00164:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00310:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00330:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00335:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00434:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL00468:Kif14	APN	1	136,396,756 (GRCm39)	missense	probably benign	0.11
IGL01330:Kif14	APN	1	136,404,112 (GRCm39)	missense	probably damaging	0.99
IGL01530:Kif14	APN	1	136,406,157 (GRCm39)	splice site	probably benign
IGL01622:Kif14	APN	1	136,425,094 (GRCm39)	splice site	probably benign
IGL01689:Kif14	APN	1	136,447,380 (GRCm39)	missense	probably damaging	0.99
IGL02115:Kif14	APN	1	136,424,305 (GRCm39)	splice site	probably benign
IGL02252:Kif14	APN	1	136,406,130 (GRCm39)	missense	probably damaging	1.00
IGL02259:Kif14	APN	1	136,427,840 (GRCm39)	missense	probably benign
IGL02439:Kif14	APN	1	136,417,999 (GRCm39)	missense	probably damaging	1.00
IGL02590:Kif14	APN	1	136,423,742 (GRCm39)	missense	probably benign	0.00
IGL02606:Kif14	APN	1	136,424,331 (GRCm39)	missense	probably damaging	1.00
IGL03253:Kif14	APN	1	136,415,198 (GRCm39)	missense	probably damaging	0.97
R0106:Kif14	UTSW	1	136,407,662 (GRCm39)	splice site	probably benign
R0193:Kif14	UTSW	1	136,396,176 (GRCm39)	missense	probably benign	0.00
R0238:Kif14	UTSW	1	136,455,131 (GRCm39)	missense	probably damaging	0.99
R0238:Kif14	UTSW	1	136,455,131 (GRCm39)	missense	probably damaging	0.99
R0239:Kif14	UTSW	1	136,455,131 (GRCm39)	missense	probably damaging	0.99
R0239:Kif14	UTSW	1	136,455,131 (GRCm39)	missense	probably damaging	0.99
R0329:Kif14	UTSW	1	136,423,764 (GRCm39)	splice site	probably benign
R0346:Kif14	UTSW	1	136,395,898 (GRCm39)	missense	probably damaging	1.00
R0393:Kif14	UTSW	1	136,410,156 (GRCm39)	missense	probably damaging	1.00
R0519:Kif14	UTSW	1	136,396,885 (GRCm39)	missense	probably damaging	1.00
R0590:Kif14	UTSW	1	136,410,210 (GRCm39)	missense	probably damaging	0.97
R0633:Kif14	UTSW	1	136,455,043 (GRCm39)	missense	probably damaging	0.96
R0657:Kif14	UTSW	1	136,396,840 (GRCm39)	missense	probably benign	0.07
R0831:Kif14	UTSW	1	136,453,609 (GRCm39)	splice site	probably benign
R0971:Kif14	UTSW	1	136,447,392 (GRCm39)	missense	probably damaging	0.98
R1018:Kif14	UTSW	1	136,423,579 (GRCm39)	splice site	probably benign
R1520:Kif14	UTSW	1	136,431,062 (GRCm39)	missense	probably benign	0.00
R1713:Kif14	UTSW	1	136,455,202 (GRCm39)	missense	probably benign	0.00
R1728:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1728:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1728:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1728:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1728:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1728:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1728:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1729:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1729:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1729:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1729:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1729:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1729:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1729:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1730:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1730:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1730:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1730:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1730:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1730:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1730:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1739:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1739:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1739:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1739:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1739:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1739:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1739:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1762:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1762:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1762:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1762:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1762:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1762:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1762:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1783:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1783:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1783:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1783:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1783:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1783:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1783:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1784:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1784:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1784:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1784:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1784:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1784:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1784:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1785:Kif14	UTSW	1	136,396,713 (GRCm39)	missense	probably damaging	1.00
R1785:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign	0.00
R1785:Kif14	UTSW	1	136,418,070 (GRCm39)	missense	probably benign
R1785:Kif14	UTSW	1	136,431,169 (GRCm39)	missense	probably benign	0.10
R1785:Kif14	UTSW	1	136,443,699 (GRCm39)	missense	probably benign	0.04
R1785:Kif14	UTSW	1	136,453,521 (GRCm39)	missense	probably benign	0.03
R1785:Kif14	UTSW	1	136,396,017 (GRCm39)	missense	probably benign
R1872:Kif14	UTSW	1	136,414,096 (GRCm39)	missense	probably damaging	1.00
R2049:Kif14	UTSW	1	136,414,818 (GRCm39)	missense	probably benign
R2049:Kif14	UTSW	1	136,437,905 (GRCm39)	missense	possibly damaging	0.68
R2268:Kif14	UTSW	1	136,447,486 (GRCm39)	nonsense	probably null
R2373:Kif14	UTSW	1	136,407,583 (GRCm39)	missense	probably damaging	1.00
R3076:Kif14	UTSW	1	136,447,383 (GRCm39)	missense	possibly damaging	0.51
R3077:Kif14	UTSW	1	136,447,383 (GRCm39)	missense	possibly damaging	0.51
R3078:Kif14	UTSW	1	136,447,383 (GRCm39)	missense	possibly damaging	0.51
R4232:Kif14	UTSW	1	136,444,101 (GRCm39)	nonsense	probably null
R4246:Kif14	UTSW	1	136,401,126 (GRCm39)	missense	possibly damaging	0.80
R4247:Kif14	UTSW	1	136,401,126 (GRCm39)	missense	possibly damaging	0.80
R4250:Kif14	UTSW	1	136,401,126 (GRCm39)	missense	possibly damaging	0.80
R4672:Kif14	UTSW	1	136,449,016 (GRCm39)	missense	probably benign	0.00
R4672:Kif14	UTSW	1	136,449,017 (GRCm39)	missense	probably benign
R4890:Kif14	UTSW	1	136,414,868 (GRCm39)	missense	possibly damaging	0.91
R4994:Kif14	UTSW	1	136,410,697 (GRCm39)	missense	probably damaging	1.00
R5102:Kif14	UTSW	1	136,444,141 (GRCm39)	missense	probably benign	0.00
R5185:Kif14	UTSW	1	136,455,207 (GRCm39)	nonsense	probably null
R5201:Kif14	UTSW	1	136,431,145 (GRCm39)	missense	probably benign	0.00
R5399:Kif14	UTSW	1	136,431,062 (GRCm39)	missense	probably benign	0.00
R5431:Kif14	UTSW	1	136,424,433 (GRCm39)	missense	possibly damaging	0.91
R5932:Kif14	UTSW	1	136,444,128 (GRCm39)	missense	probably benign	0.23
R6027:Kif14	UTSW	1	136,410,797 (GRCm39)	splice site	probably null
R6246:Kif14	UTSW	1	136,404,162 (GRCm39)	nonsense	probably null
R6331:Kif14	UTSW	1	136,443,724 (GRCm39)	missense	probably null	1.00
R6448:Kif14	UTSW	1	136,431,085 (GRCm39)	missense	probably damaging	0.99
R6453:Kif14	UTSW	1	136,410,042 (GRCm39)	splice site	probably null
R6475:Kif14	UTSW	1	136,455,149 (GRCm39)	missense	probably damaging	1.00
R6631:Kif14	UTSW	1	136,443,697 (GRCm39)	missense	probably benign	0.39
R6713:Kif14	UTSW	1	136,453,544 (GRCm39)	missense	probably benign
R7173:Kif14	UTSW	1	136,406,908 (GRCm39)	missense	probably damaging	0.98
R7174:Kif14	UTSW	1	136,448,995 (GRCm39)	missense	possibly damaging	0.67
R7241:Kif14	UTSW	1	136,396,491 (GRCm39)	missense	probably benign	0.41
R7674:Kif14	UTSW	1	136,396,558 (GRCm39)	missense	probably damaging	0.99
R7688:Kif14	UTSW	1	136,422,392 (GRCm39)	missense	probably damaging	1.00
R7711:Kif14	UTSW	1	136,399,191 (GRCm39)	missense	probably benign	0.10
R7722:Kif14	UTSW	1	136,396,033 (GRCm39)	missense	probably benign	0.00
R7763:Kif14	UTSW	1	136,444,121 (GRCm39)	missense	probably benign	0.00
R7882:Kif14	UTSW	1	136,443,763 (GRCm39)	missense	probably benign	0.43
R8077:Kif14	UTSW	1	136,399,186 (GRCm39)	missense	possibly damaging	0.87
R8101:Kif14	UTSW	1	136,404,090 (GRCm39)	missense	probably benign	0.14
R8308:Kif14	UTSW	1	136,443,651 (GRCm39)	missense	possibly damaging	0.90
R8338:Kif14	UTSW	1	136,422,416 (GRCm39)	missense	probably damaging	1.00
R8527:Kif14	UTSW	1	136,396,495 (GRCm39)	missense	possibly damaging	0.95
R8542:Kif14	UTSW	1	136,396,495 (GRCm39)	missense	possibly damaging	0.95
R8884:Kif14	UTSW	1	136,414,089 (GRCm39)	missense
R9435:Kif14	UTSW	1	136,401,174 (GRCm39)	missense	possibly damaging	0.92
R9499:Kif14	UTSW	1	136,455,219 (GRCm39)	missense	probably damaging	0.96
R9551:Kif14	UTSW	1	136,455,219 (GRCm39)	missense	probably damaging	0.96
R9577:Kif14	UTSW	1	136,399,138 (GRCm39)	missense	probably benign	0.00
X0021:Kif14	UTSW	1	136,418,014 (GRCm39)	missense	probably damaging	1.00
Z1176:Kif14	UTSW	1	136,427,754 (GRCm39)	critical splice acceptor site	probably null
Z1176:Kif14	UTSW	1	136,424,391 (GRCm39)	missense	probably damaging	0.97
Z1177:Kif14	UTSW	1	136,406,103 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGTGGAGCATCCCGATATG -3'
(R):5'- ACTATAATCTTGGGACAGCAAGG -3'

Sequencing Primer
(F):5'- GCATCCCGATATGAAACAAGTTTAC -3'
(R):5'- GTAAGCCTGCTGACCTAAGG -3'

Posted On

2019-12-20