Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00335:Kif14'

362019

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif14

Ensembl Gene

ENSMUSG00000041498

Gene Name

kinesin family member 14

Synonyms

N-3 kinesin, D1Ertd367e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL00335

Quality Score

Status

Chromosome

Chromosomal Location

136394081-136459249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136396756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 354 (S354N)

Ref Sequence

ENSEMBL: ENSMUSP00000144265 (fasta)

Gene Model

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

AlphaFold

L0N7N1

Predicted Effect

probably benign
Transcript: ENSMUST00000047817
AA Change: S304N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: S304N

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

noncoding transcript
Transcript: ENSMUST00000187963

Predicted Effect

probably benign
Transcript: ENSMUST00000189413
AA Change: S354N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: S354N

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

noncoding transcript
Transcript: ENSMUST00000201158

Predicted Effect

probably benign
Transcript: ENSMUST00000201676
AA Change: S354N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144265
Gene: ENSMUSG00000041498
AA Change: S354N

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

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700048O20Rik	C	A	9: 121,769,833 (GRCm39)		noncoding transcript	Het
4930579F01Rik	C	A	3: 137,891,959 (GRCm39)		probably benign	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Bace1	T	C	9: 45,750,588 (GRCm39)		probably null	Het
Chrne	C	T	11: 70,506,588 (GRCm39)	V311I	probably benign	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cyp2c70	C	T	19: 40,156,020 (GRCm39)	V177M	probably damaging	Het
Dusp10	A	G	1: 183,801,328 (GRCm39)	E365G	probably benign	Het
Fcgbp	C	A	7: 27,785,560 (GRCm39)	N332K	possibly damaging	Het
Irx4	T	C	13: 73,416,810 (GRCm39)	V402A	probably benign	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama3	A	G	18: 12,582,645 (GRCm39)		probably benign	Het
Lhfpl7	A	G	5: 113,383,869 (GRCm39)	R96G	probably benign	Het
Lrrc8b	T	C	5: 105,628,365 (GRCm39)	I237T	probably damaging	Het
Mepe	G	T	5: 104,485,843 (GRCm39)	G328C	probably damaging	Het
Numb	A	G	12: 83,854,906 (GRCm39)	I129T	probably damaging	Het
Or5h25	T	C	16: 58,930,961 (GRCm39)	D4G	probably benign	Het
Or6c209	T	C	10: 129,483,306 (GRCm39)	I103T	probably benign	Het
Osmr	T	C	15: 6,866,504 (GRCm39)	D390G	probably benign	Het
Pglyrp3	G	A	3: 91,929,986 (GRCm39)	V51I	probably damaging	Het
Phactr2	T	C	10: 13,121,279 (GRCm39)	T470A	probably damaging	Het
Psmg1	G	A	16: 95,781,268 (GRCm39)	T259I	possibly damaging	Het
Rtl3	T	C	X: 105,882,543 (GRCm39)	T240A	probably benign	Het
Ryr1	C	T	7: 28,824,385 (GRCm39)		probably null	Het
Slc10a6	A	G	5: 103,756,991 (GRCm39)	S258P	probably benign	Het
Slc1a6	T	C	10: 78,637,647 (GRCm39)	L391P	probably damaging	Het
Slc6a7	C	T	18: 61,134,681 (GRCm39)	V465M	possibly damaging	Het
Sost	T	C	11: 101,857,705 (GRCm39)	D32G	probably damaging	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Tifab	A	G	13: 56,324,282 (GRCm39)	S54P	probably damaging	Het
Tnrc6a	T	A	7: 122,770,003 (GRCm39)	S598T	probably benign	Het
Vmn2r1	T	A	3: 64,012,809 (GRCm39)	I890N	probably damaging	Het
Wapl	A	G	14: 34,414,593 (GRCm39)	D485G	probably benign	Het
Wee2	A	T	6: 40,438,995 (GRCm39)	I373F	probably damaging	Het
Xkr6	A	G	14: 64,056,664 (GRCm39)	T192A	probably damaging	Het
Zfp638	A	G	6: 83,956,700 (GRCm39)	D1769G	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
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
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

Posted On

2015-12-18