Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Kif14'

641173

Institutional Source

Beutler Lab

Gene Symbol

Kif14

Ensembl Gene

ENSMUSG00000041498

Gene Name

kinesin family member 14

Synonyms

N-3 kinesin, D1Ertd367e

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136394081-136459249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136443651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1275 (I1275V)

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

possibly damaging
Transcript: ENSMUST00000047817
AA Change: I1225V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: I1225V

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

possibly damaging
Transcript: ENSMUST00000189413
AA Change: I1275V

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: I1275V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Mettl23	G	A	11: 116,739,185 (GRCm39)		probably null	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Usp12	T	C	5: 146,688,751 (GRCm39)	D201G	probably damaging	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het
Zswim3	A	G	2: 164,663,566 (GRCm39)	E682G	probably damaging	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
R7882:Kif14	UTSW	1	136,399,314 (GRCm39)	critical splice donor site	probably null
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
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'- GGAGTTGCGTCTTCACCTTG -3'
(R):5'- AGGAATGGCTTACGGTTATCTTGAC -3'

Sequencing Primer
(F):5'- CCTTGGTGTGTAGAAATAAGAATGC -3'
(R):5'- GGCTTACGGTTATCTTGACTTTCTTC -3'

Posted On

2020-07-28