Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Kif17'

21739

Institutional Source

Beutler Lab

Gene Symbol

Kif17

Ensembl Gene

ENSMUSG00000028758

Gene Name

kinesin family member 17

Synonyms

5930435E01Rik, Kif17b, N-4 kinesin

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

137989562-138029284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138005556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 182 (S182P)

Ref Sequence

ENSEMBL: ENSMUSP00000101444 (fasta)

Gene Model

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

AlphaFold

Q99PW8

Predicted Effect

probably benign
Transcript: ENSMUST00000030539
AA Change: S374P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: S374P

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

possibly damaging
Transcript: ENSMUST00000105818
AA Change: S182P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: S182P

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

probably benign
Transcript: ENSMUST00000105821
AA Change: S374P

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: S374P

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Ikzf1	T	A	11: 11,691,015 (GRCm39)		probably null	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kcnc2	T	C	10: 112,294,502 (GRCm39)	C579R	probably damaging	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Ksr2	T	G	5: 117,693,359 (GRCm39)	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,738,522 (GRCm39)	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Tmpo	G	T	10: 90,999,900 (GRCm39)		probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly damaging	Het

Other mutations in Kif17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Kif17	APN	4	137,990,019 (GRCm39)	missense	possibly damaging	0.66
IGL00973:Kif17	APN	4	138,002,368 (GRCm39)	missense	probably benign	0.06
IGL01527:Kif17	APN	4	137,996,397 (GRCm39)	missense	probably benign	0.21
IGL01559:Kif17	APN	4	138,021,080 (GRCm39)	missense	probably damaging	0.99
IGL01736:Kif17	APN	4	138,013,876 (GRCm39)	missense	possibly damaging	0.96
IGL02671:Kif17	APN	4	138,015,372 (GRCm39)	missense	possibly damaging	0.85
IGL02976:Kif17	APN	4	137,996,374 (GRCm39)	missense	probably damaging	1.00
IGL03051:Kif17	APN	4	138,016,565 (GRCm39)	missense	probably damaging	0.99
IGL03285:Kif17	APN	4	137,996,301 (GRCm39)	missense	probably damaging	0.97
easy_company	UTSW	4	138,015,643 (GRCm39)	nonsense	probably null
fiddle	UTSW	4	138,013,791 (GRCm39)	missense	probably benign	0.18
fidget	UTSW	4	137,997,202 (GRCm39)	missense	probably damaging	1.00
A5278:Kif17	UTSW	4	138,015,261 (GRCm39)	missense	probably benign	0.33
R0012:Kif17	UTSW	4	138,021,059 (GRCm39)	missense	probably damaging	0.99
R0012:Kif17	UTSW	4	138,021,059 (GRCm39)	missense	probably damaging	0.99
R0627:Kif17	UTSW	4	138,015,798 (GRCm39)	critical splice donor site	probably null
R0670:Kif17	UTSW	4	137,989,810 (GRCm39)	unclassified	probably benign
R0894:Kif17	UTSW	4	138,025,542 (GRCm39)	missense	possibly damaging	0.93
R1367:Kif17	UTSW	4	138,005,305 (GRCm39)	nonsense	probably null
R1648:Kif17	UTSW	4	137,997,206 (GRCm39)	missense	probably damaging	1.00
R1674:Kif17	UTSW	4	138,028,569 (GRCm39)	missense	probably benign	0.13
R1700:Kif17	UTSW	4	137,990,009 (GRCm39)	nonsense	probably null
R1855:Kif17	UTSW	4	138,015,582 (GRCm39)	missense	probably benign	0.44
R2137:Kif17	UTSW	4	137,989,978 (GRCm39)	missense	probably damaging	0.98
R2170:Kif17	UTSW	4	138,015,682 (GRCm39)	missense	probably benign	0.01
R3008:Kif17	UTSW	4	138,005,476 (GRCm39)	missense	probably damaging	1.00
R3855:Kif17	UTSW	4	138,018,821 (GRCm39)	missense	probably benign	0.18
R4591:Kif17	UTSW	4	138,005,110 (GRCm39)	missense	probably benign	0.06
R4789:Kif17	UTSW	4	138,008,688 (GRCm39)	missense	probably damaging	1.00
R5407:Kif17	UTSW	4	138,025,532 (GRCm39)	missense	probably damaging	1.00
R5859:Kif17	UTSW	4	138,018,744 (GRCm39)	missense	possibly damaging	0.71
R5901:Kif17	UTSW	4	138,025,643 (GRCm39)	splice site	probably null
R5919:Kif17	UTSW	4	137,997,202 (GRCm39)	missense	probably damaging	1.00
R6119:Kif17	UTSW	4	138,015,643 (GRCm39)	nonsense	probably null
R6312:Kif17	UTSW	4	138,015,504 (GRCm39)	missense	probably benign	0.40
R6693:Kif17	UTSW	4	138,013,791 (GRCm39)	missense	probably benign	0.18
R6774:Kif17	UTSW	4	138,002,306 (GRCm39)	missense	probably damaging	1.00
R6838:Kif17	UTSW	4	138,005,710 (GRCm39)	splice site	probably null
R6863:Kif17	UTSW	4	137,997,195 (GRCm39)	nonsense	probably null
R7205:Kif17	UTSW	4	138,021,077 (GRCm39)	missense	probably benign	0.21
R7307:Kif17	UTSW	4	137,989,954 (GRCm39)	missense	probably benign	0.00
R7336:Kif17	UTSW	4	138,025,617 (GRCm39)	missense	possibly damaging	0.76
R7594:Kif17	UTSW	4	138,005,236 (GRCm39)	missense	probably damaging	1.00
R7806:Kif17	UTSW	4	138,015,507 (GRCm39)	missense	possibly damaging	0.71
R8019:Kif17	UTSW	4	138,023,536 (GRCm39)	missense	probably benign	0.17
R8306:Kif17	UTSW	4	138,005,220 (GRCm39)	missense	probably damaging	0.99
R9461:Kif17	UTSW	4	138,005,253 (GRCm39)	missense	probably damaging	1.00
Z1177:Kif17	UTSW	4	138,015,241 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCAGTACGCTGCGCTATGCTAAC -3'
(R):5'- ATGCTAAGAACATGATGTCCCTGCC -3'

Sequencing Primer
(F):5'- TGCGCTATGCTAACAGGGC -3'
(R):5'- ATGATGTCCCTGCCACTGAG -3'

Posted On

2013-04-12