Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Kif14'

248190

Institutional Source

Beutler Lab

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 #

R2373 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

136394081-136459249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136407583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 46 (A46E)

Ref Sequence

ENSEMBL: ENSMUSP00000142040 (fasta)

Gene Model

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

AlphaFold

L0N7N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000047817
AA Change: A544E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: A544E

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 damaging
Transcript: ENSMUST00000189413
AA Change: A594E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: A594E

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: ENSMUST00000193587

Predicted Effect

probably damaging
Transcript: ENSMUST00000195274
AA Change: A46E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142040
Gene: ENSMUSG00000041498
AA Change: A46E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195390

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9130023H24Rik	A	T	7: 127,836,487 (GRCm39)	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,101,039 (GRCm39)	N471D	probably benign	Het
Ahctf1	A	T	1: 179,623,361 (GRCm39)	F86I	probably damaging	Het
Alpk1	T	C	3: 127,473,457 (GRCm39)	T849A	probably benign	Het
Arfgef1	A	T	1: 10,244,367 (GRCm39)	D965E	probably damaging	Het
Asxl1	A	G	2: 153,243,820 (GRCm39)	T1458A	probably benign	Het
Cdc42bpa	A	T	1: 179,939,349 (GRCm39)	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Col12a1	A	T	9: 79,564,095 (GRCm39)	V1710E	probably benign	Het
Corin	G	A	5: 72,496,381 (GRCm39)	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,064,158 (GRCm39)	H658R	probably damaging	Het
Disp3	A	G	4: 148,343,252 (GRCm39)	V553A	probably damaging	Het
Dpm2	T	C	2: 32,462,457 (GRCm39)	F81S	probably benign	Het
Emc2	T	A	15: 43,377,154 (GRCm39)	I239N	probably damaging	Het
Fhip1a	C	T	3: 85,583,404 (GRCm39)	W464*	probably null	Het
Fzd5	C	T	1: 64,774,066 (GRCm39)	G565D	probably damaging	Het
Gpld1	T	C	13: 25,146,839 (GRCm39)	F267S	probably benign	Het
Mta3	G	T	17: 84,091,730 (GRCm39)	E179*	probably null	Het
Ninl	T	G	2: 150,822,037 (GRCm39)	T22P	probably damaging	Het
Pcnx2	T	C	8: 126,480,190 (GRCm39)	N2039S	probably damaging	Het
Rc3h2	A	G	2: 37,269,013 (GRCm39)	S818P	possibly damaging	Het
Scn11a	T	A	9: 119,642,252 (GRCm39)	E162D	probably benign	Het
Slc5a7	A	T	17: 54,584,154 (GRCm39)	W379R	probably damaging	Het
Sptb	C	T	12: 76,667,935 (GRCm39)	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,038,982 (GRCm39)	V85E	probably damaging	Het
Vmn2r130	T	C	17: 23,280,480 (GRCm39)	I47T	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,665 (GRCm39)	F41L	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
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

Predicted Primers

PCR Primer
(F):5'- CACGCGTCTGTGAAAGAAAC -3'
(R):5'- TACAGGAAAAGAGGTCATGCATTTG -3'

Sequencing Primer
(F):5'- CCAAAAGTGGCAACGGC -3'
(R):5'- GGTCATGCATTTGAGAAGGAGG -3'

Posted On

2014-11-11