Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00973:Kif17'

27338

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: 0.235) question?

Stock #

IGL00973

Quality Score

Status

Chromosome

Chromosomal Location

138250435-138301967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138275057 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000101444 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030539
AA Change: T191A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: T191A

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: T91A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: T91A

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

noncoding transcript
Transcript: ENSMUST00000105820

Predicted Effect

unknown
Transcript: ENSMUST00000105821
AA Change: T191A

SMART Domains

Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: T191A

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10a	G	T	7: 58,807,470	D906Y	probably damaging	Het
Cdh18	A	G	15: 23,173,796	K32R	probably damaging	Het
Chtf18	G	A	17: 25,722,116	A636V	probably benign	Het
Clcn6	A	G	4: 148,013,788		probably benign	Het
Dspp	A	C	5: 104,176,892	K374Q	possibly damaging	Het
Dusp27	T	C	1: 166,099,458	S862G	probably benign	Het
Ehmt2	C	T	17: 34,910,815	R962C	probably damaging	Het
Frrs1l	T	C	4: 56,972,369	K111E	probably damaging	Het
Galnt5	A	G	2: 57,998,939	T184A	probably benign	Het
Glud1	C	T	14: 34,319,942	T169I	probably damaging	Het
Hinfp	T	G	9: 44,298,139	D283A	probably benign	Het
Hmcn2	C	T	2: 31,383,821		probably benign	Het
Hs6st3	A	T	14: 119,869,407	Y409F	possibly damaging	Het
Ighv15-2	A	T	12: 114,564,870	V20D	possibly damaging	Het
Mical3	T	C	6: 120,934,924		probably benign	Het
Myo1e	C	T	9: 70,338,787	T420M	probably damaging	Het
Olfr876	C	A	9: 37,804,782	S290R	probably damaging	Het
Ovgp1	T	A	3: 105,981,277	Y316*	probably null	Het
Plekha1	T	A	7: 130,911,013	V313D	probably damaging	Het
Polr1e	C	A	4: 45,031,364		probably benign	Het
Prdm15	A	T	16: 97,806,167		probably benign	Het
Ptpn4	T	A	1: 119,741,371	M250L	probably benign	Het
Rtn1	A	T	12: 72,408,511	L14Q	probably benign	Het
Sec24a	T	C	11: 51,729,577		probably null	Het
Sox7	A	G	14: 63,948,187	H224R	probably benign	Het
Sucla2	T	C	14: 73,590,907	I318T	possibly damaging	Het
Tubb4b-ps1	A	G	5: 7,179,408		probably benign	Het
Ube2o	T	A	11: 116,541,205	K940M	probably damaging	Het
Usp20	A	C	2: 31,004,950	N149T	probably damaging	Het
Utp6	C	T	11: 79,955,705	W150*	probably null	Het
Wdr27	A	C	17: 14,913,878	H475Q	probably benign	Het

Other mutations in Kif17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Kif17	APN	4	138262708	missense	possibly damaging	0.66
IGL01527:Kif17	APN	4	138269086	missense	probably benign	0.21
IGL01559:Kif17	APN	4	138293769	missense	probably damaging	0.99
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

2013-04-17