Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Kif14'

306563

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: 0.924) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

136466343-136531511 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136469018 bp (GRCm38)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	G	A	7: 118,797,047 (GRCm38)		probably null	Het
Axin1	A	T	17: 26,142,805 (GRCm38)	D41V	possibly damaging	Het
BC034090	C	A	1: 155,225,451 (GRCm38)	E718*	probably null	Het
Cdc123	G	T	2: 5,804,935 (GRCm38)	Q222K	probably benign	Het
Clip1	A	C	5: 123,603,654 (GRCm38)	V1053G	possibly damaging	Het
Dock7	T	A	4: 99,063,985 (GRCm38)	E416V	probably damaging	Het
Dydc1	T	C	14: 41,087,413 (GRCm38)	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839 (GRCm38)	V732A	probably benign	Het
Dzip1l	T	A	9: 99,637,777 (GRCm38)	L119Q	probably damaging	Het
Erp27	T	A	6: 136,909,502 (GRCm38)	S178C	probably damaging	Het
Fbn1	A	G	2: 125,397,873 (GRCm38)	V298A	probably benign	Het
Fbxo34	A	G	14: 47,529,474 (GRCm38)	H97R	probably damaging	Het
Gm20521	C	T	14: 54,884,622 (GRCm38)	Q81*	probably null	Het
Gspt1	T	C	16: 11,222,612 (GRCm38)	M610V	probably damaging	Het
Herc1	A	G	9: 66,437,682 (GRCm38)	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,935,055 (GRCm38)		probably benign	Het
Lrrk2	A	G	15: 91,747,799 (GRCm38)	K1309E	possibly damaging	Het
Lurap1	T	C	4: 116,137,690 (GRCm38)	T115A	probably damaging	Het
Myo18b	G	T	5: 112,874,131 (GRCm38)	T465K	probably benign	Het
Nwd1	A	T	8: 72,671,077 (GRCm38)	D648V	probably damaging	Het
Or13c25	T	G	4: 52,911,618 (GRCm38)	M59L	possibly damaging	Het
Or2at4	G	A	7: 99,735,317 (GRCm38)	R58H	probably benign	Het
Otof	T	C	5: 30,375,904 (GRCm38)	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,344,397 (GRCm38)	C285Y	probably damaging	Het
Parp3	A	G	9: 106,471,387 (GRCm38)	I478T	probably benign	Het
Pdzd2	C	T	15: 12,457,983 (GRCm38)	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,896,125 (GRCm38)	L634P	probably damaging	Het
Prkg1	C	A	19: 31,302,340 (GRCm38)	V165L	probably benign	Het
Riok3	A	G	18: 12,148,891 (GRCm38)	I306V	possibly damaging	Het
Ror2	T	C	13: 53,113,082 (GRCm38)	D439G	probably benign	Het
Scn2a	T	A	2: 65,743,090 (GRCm38)	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,232,475 (GRCm38)	D146N	probably benign	Het
Skic3	T	C	13: 76,143,278 (GRCm38)		probably null	Het
Slc16a9	A	G	10: 70,282,699 (GRCm38)	R283G	probably benign	Het
Sptb	T	C	12: 76,621,331 (GRCm38)	D664G	probably benign	Het
Tmprss3	T	A	17: 31,195,008 (GRCm38)	D54V	probably damaging	Het
Tubd1	G	T	11: 86,565,729 (GRCm38)	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,428,785 (GRCm38)	M83K	probably benign	Het
Vps13c	A	G	9: 67,945,999 (GRCm38)	E2458G	probably benign	Het
Zhx2	A	T	15: 57,822,870 (GRCm38)	E545V	probably 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
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
R4232:Kif14	UTSW	1	136,516,363 (GRCm38)	nonsense	probably null
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

Posted On

2015-04-16