Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Kif17'

567301

Institutional Source

Beutler Lab

Gene Symbol

Kif17

Ensembl Gene

ENSMUSG00000028758

Gene Name

kinesin family member 17

Synonyms

N-4 kinesin, 5930435E01Rik, Kif17b

MMRRC Submission

Accession Numbers

Genbank: NM_010623; MGI: 1098229

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138250435-138301967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138262643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 47 (E47D)

Ref Sequence

ENSEMBL: ENSMUSP00000030539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821] [ENSMUST00000105823] [ENSMUST00000105824]

AlphaFold

Q99PW8

Predicted Effect

probably benign
Transcript: ENSMUST00000030539
AA Change: E47D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: E47D

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

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758

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

unknown
Transcript: ENSMUST00000105821
AA Change: E47D

SMART Domains

Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: E47D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105823

SMART Domains

Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349

Domain	Start	End	E-Value	Type
Pfam:PID	27	149	1e-6	PFAM
SH2	300	384	9.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105824

SMART Domains

Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349

Domain	Start	End	E-Value	Type
SCOP:d1ddma_	24	146	8e-18	SMART
Blast:PTB	28	146	6e-6	BLAST
SH2	300	384	9.29e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	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
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
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
R9461:Kif17	UTSW	4	138277942	missense	probably damaging	1.00
Z1177:Kif17	UTSW	4	138287930	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATAGGGTAGTTCCTACGGCC -3'
(R):5'- GACTAACCTGCCGCTATCTAC -3'

Sequencing Primer
(F):5'- TGACGTCACGGAGGTTGC -3'
(R):5'- TATCTACCTGTGCCCGGAG -3'

Posted On

2019-06-26