Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01559:Kif17'

90801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif17

Ensembl Gene

ENSMUSG00000028758

Gene Name

kinesin family member 17

Synonyms

N-4 kinesin, 5930435E01Rik, Kif17b

Accession Numbers

Genbank: NM_010623; MGI: 1098229

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

138250435-138301967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138293769 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 850 (I850V)

Ref Sequence

ENSEMBL: ENSMUSP00000030539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030539
AA Change: I850V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: I850V

Domain	Start	End	E-Value	Type
KISc	3	343	4.57e-178	SMART
coiled coil region	400	470	N/A	INTRINSIC
low complexity region	723	736	N/A	INTRINSIC
coiled coil region	806	852	N/A	INTRINSIC
low complexity region	983	1000	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105818
AA Change: I659V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: I659V

Domain	Start	End	E-Value	Type
KISc	1	151	1.46e-13	SMART
coiled coil region	208	278	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
coiled coil region	615	661	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105821
AA Change: I613V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: I613V

Domain	Start	End	E-Value	Type
KISc	3	343	4.57e-178	SMART
low complexity region	486	499	N/A	INTRINSIC
coiled coil region	569	615	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired anterograde neuron transport, reduced NMDA-mediated synaptic currents, impaired synaptic plasticity, impaired long term object recognition memory, impaired spatial learning, and impaired contextual conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,309,020	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,272,526	N1621S	probably benign	Het
Asb18	G	A	1: 89,954,450	S122F	probably damaging	Het
Atg4c	A	G	4: 99,218,203		probably benign	Het
Bbs7	T	C	3: 36,594,510	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,406,867	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,323,233	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,820,951	K80*	probably null	Het
Dennd6a	A	G	14: 26,608,565	D97G	probably damaging	Het
Dmxl1	A	G	18: 49,920,938	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,024,252		probably null	Het
Exoc4	A	G	6: 33,266,076	T75A	probably damaging	Het
Fbll1	T	C	11: 35,797,545	E297G	probably damaging	Het
Gm10642	T	A	9: 70,656,592	D152V	probably damaging	Het
Hdac3	A	G	18: 37,943,672		probably benign	Het
Olfr166	T	C	16: 19,487,459	L207P	probably benign	Het
Pi4kb	T	A	3: 94,984,129	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,143,284		probably null	Het
Slc28a2	T	A	2: 122,454,540	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,841,229	S164P	probably damaging	Het

Other mutations in Kif17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Kif17	APN	4	138262708	missense	possibly damaging	0.66
IGL00973:Kif17	APN	4	138275057	missense	probably benign	0.06
IGL01527:Kif17	APN	4	138269086	missense	probably benign	0.21
IGL01736:Kif17	APN	4	138286565	missense	possibly damaging	0.96
IGL02671:Kif17	APN	4	138288061	missense	possibly damaging	0.85
IGL02976:Kif17	APN	4	138269063	missense	probably damaging	1.00
IGL03051:Kif17	APN	4	138289254	missense	probably damaging	0.99
IGL03285:Kif17	APN	4	138268990	missense	probably damaging	0.97
easy_company	UTSW	4	138288332	nonsense	probably null
fiddle	UTSW	4	138286480	missense	probably benign	0.18
fidget	UTSW	4	138269891	missense	probably damaging	1.00
A5278:Kif17	UTSW	4	138287950	missense	probably benign	0.33
R0012:Kif17	UTSW	4	138293748	missense	probably damaging	0.99
R0012:Kif17	UTSW	4	138293748	missense	probably damaging	0.99
R0133:Kif17	UTSW	4	138278245	missense	possibly damaging	0.73
R0627:Kif17	UTSW	4	138288487	critical splice donor site	probably null
R0670:Kif17	UTSW	4	138262499	unclassified	probably benign
R0894:Kif17	UTSW	4	138298231	missense	possibly damaging	0.93
R1367:Kif17	UTSW	4	138277994	nonsense	probably null
R1648:Kif17	UTSW	4	138269895	missense	probably damaging	1.00
R1674:Kif17	UTSW	4	138301258	missense	probably benign	0.13
R1700:Kif17	UTSW	4	138262698	nonsense	probably null
R1855:Kif17	UTSW	4	138288271	missense	probably benign	0.44
R2137:Kif17	UTSW	4	138262667	missense	probably damaging	0.98
R2170:Kif17	UTSW	4	138288371	missense	probably benign	0.01
R3008:Kif17	UTSW	4	138278165	missense	probably damaging	1.00
R3855:Kif17	UTSW	4	138291510	missense	probably benign	0.18
R4591:Kif17	UTSW	4	138277799	missense	probably benign	0.06
R4789:Kif17	UTSW	4	138281377	missense	probably damaging	1.00
R5407:Kif17	UTSW	4	138298221	missense	probably damaging	1.00
R5859:Kif17	UTSW	4	138291433	missense	possibly damaging	0.71
R5901:Kif17	UTSW	4	138298332	splice site	probably null
R5919:Kif17	UTSW	4	138269891	missense	probably damaging	1.00
R6119:Kif17	UTSW	4	138288332	nonsense	probably null
R6312:Kif17	UTSW	4	138288193	missense	probably benign	0.40
R6693:Kif17	UTSW	4	138286480	missense	probably benign	0.18
R6774:Kif17	UTSW	4	138274995	missense	probably damaging	1.00
R6838:Kif17	UTSW	4	138278399	splice site	probably null
R6863:Kif17	UTSW	4	138269884	nonsense	probably null
R7205:Kif17	UTSW	4	138293766	missense	probably benign	0.21
R7307:Kif17	UTSW	4	138262643	missense	probably benign	0.00
R7336:Kif17	UTSW	4	138298306	missense	possibly damaging	0.76
R7594:Kif17	UTSW	4	138277925	missense	probably damaging	1.00
R7806:Kif17	UTSW	4	138288196	missense	possibly damaging	0.71
R8019:Kif17	UTSW	4	138296225	missense	probably benign	0.17
R8306:Kif17	UTSW	4	138277909	missense	probably damaging	0.99
Z1177:Kif17	UTSW	4	138287930	missense	probably benign	0.04

Posted On

2013-12-09