Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Kif9'

229165

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

040081-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110476958-110525179 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110485032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061155] [ENSMUST00000084952] [ENSMUST00000197248] [ENSMUST00000198043] [ENSMUST00000198858]

AlphaFold

Q9WV04

Predicted Effect

probably null
Transcript: ENSMUST00000061155

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	7e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000084952

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	7e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000197248

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	608	6e-19	BLAST
low complexity region	651	668	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198043

SMART Domains

Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	4	348	1.25e-120	SMART
low complexity region	359	371	N/A	INTRINSIC
Blast:KISc	372	476	5e-14	BLAST
low complexity region	489	501	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000198858

SMART Domains

Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489

Domain	Start	End	E-Value	Type
KISc	9	144	6.7e-7	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,219,257	D1763E	possibly damaging	Het
Abca5	A	T	11: 110,287,652	V1165D	probably benign	Het
Acot11	T	C	4: 106,770,713	H103R	probably damaging	Het
AI481877	A	G	4: 59,082,410	V406A	possibly damaging	Het
Apba1	G	T	19: 23,893,223	E140*	probably null	Het
Bicdl1	A	T	5: 115,655,928	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,929,506		probably null	Het
Ccne2	A	G	4: 11,197,177	R160G	probably damaging	Het
Cct7	A	T	6: 85,468,140	I458F	probably damaging	Het
Cd3g	T	A	9: 44,974,297	D50V	probably damaging	Het
Ces2h	T	C	8: 105,019,028	L461P	probably benign	Het
Csn2	A	G	5: 87,696,174	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,879,766	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593		probably null	Het
Dlgap1	C	T	17: 70,786,831	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098	S234G	probably benign	Het
Dnah7a	T	C	1: 53,503,809	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,242,321	Y2847*	probably null	Het
Dpysl2	A	G	14: 66,865,122	S30P	probably damaging	Het
Ezh2	A	T	6: 47,576,633	L50*	probably null	Het
Fam135b	T	A	15: 71,478,243	E349D	probably damaging	Het
Fam69c	G	T	18: 84,736,908	D170Y	probably damaging	Het
Frat2	T	C	19: 41,847,803	T37A	probably benign	Het
Gm5294	A	G	5: 138,821,267	D100G	probably benign	Het
Hivep1	G	A	13: 42,164,393		probably null	Het
Hspb11	T	C	4: 107,279,767	S121P	possibly damaging	Het
Ikbkap	T	C	4: 56,786,620	D441G	probably damaging	Het
Impdh1	G	A	6: 29,205,163	A213V	probably damaging	Het
Irf2	G	T	8: 46,845,927	W252L	probably damaging	Het
Irx4	A	G	13: 73,268,265	D260G	probably damaging	Het
Kalrn	T	A	16: 34,332,143	H338L	probably benign	Het
Klhl24	T	C	16: 20,117,878	V412A	probably damaging	Het
Lgals8	T	A	13: 12,454,869	K70*	probably null	Het
Mkl2	T	C	16: 13,401,382	S631P	probably benign	Het
Myo1e	T	A	9: 70,383,877	N983K	probably benign	Het
Nipbl	T	C	15: 8,311,207	R2010G	probably benign	Het
Npw	A	T	17: 24,657,439	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,709,144	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,342,647	Y579H	probably damaging	Het
Pde8a	A	G	7: 81,308,945	T330A	probably benign	Het
Plxnb2	C	T	15: 89,158,026	V1592M	probably damaging	Het
Ppp2r3a	A	C	9: 101,144,371	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,589,368	I1349K	probably damaging	Het
Rad52	C	T	6: 119,911,079	H9Y	probably benign	Het
Rapgef1	A	G	2: 29,702,508	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,250,038	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,214,088	M273V	probably benign	Het
Slc30a3	G	T	5: 31,086,821	Y323*	probably null	Het
Slc5a9	T	C	4: 111,885,573	I441V	possibly damaging	Het
Spast	G	C	17: 74,352,031	G131A	probably damaging	Het
Syne1	C	G	10: 5,040,897	W8444S	probably damaging	Het
Tgm4	G	T	9: 123,051,095	A211S	probably benign	Het
Themis2	T	C	4: 132,785,802	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Uba3	G	T	6: 97,199,280	D88E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,882	M111K	probably damaging	Het
Wdr35	C	T	12: 9,024,281	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,186,282	H356Q	possibly damaging	Het
Zfp180	A	G	7: 24,105,103	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,914,327	L900P	probably damaging	Het
Zfp655	A	G	5: 145,244,600	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,009,468	Q344R	probably benign	Het

Other mutations in Kif9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Kif9	APN	9	110485070	missense	probably benign	0.03
IGL02273:Kif9	APN	9	110510470	missense	probably damaging	0.99
IGL02818:Kif9	APN	9	110485149	missense	probably damaging	1.00
R0034:Kif9	UTSW	9	110519611	missense	probably benign	0.23
R0034:Kif9	UTSW	9	110519611	missense	probably benign	0.23
R0047:Kif9	UTSW	9	110485038	missense	probably benign	0.05
R0047:Kif9	UTSW	9	110485038	missense	probably benign	0.05
R0137:Kif9	UTSW	9	110485038	missense	probably damaging	1.00
R0594:Kif9	UTSW	9	110511340	missense	probably benign	0.22
R1503:Kif9	UTSW	9	110510438	missense	possibly damaging	0.89
R1657:Kif9	UTSW	9	110489966	missense	possibly damaging	0.82
R1826:Kif9	UTSW	9	110517633	missense	probably benign	0.34
R1856:Kif9	UTSW	9	110517719	missense	probably null	1.00
R3407:Kif9	UTSW	9	110519140	missense	probably damaging	1.00
R4247:Kif9	UTSW	9	110495959	critical splice donor site	probably null
R4487:Kif9	UTSW	9	110494484	missense	probably null	1.00
R4515:Kif9	UTSW	9	110489867	missense	probably benign	0.38
R4880:Kif9	UTSW	9	110501635	missense	probably damaging	0.98
R5024:Kif9	UTSW	9	110483093	missense	possibly damaging	0.81
R5093:Kif9	UTSW	9	110489897	missense	probably damaging	1.00
R5181:Kif9	UTSW	9	110521268	missense	probably damaging	1.00
R5362:Kif9	UTSW	9	110489944	missense	probably damaging	0.99
R5379:Kif9	UTSW	9	110521303	missense	probably benign	0.00
R5628:Kif9	UTSW	9	110514553	nonsense	probably null
R5653:Kif9	UTSW	9	110524931	missense	probably damaging	1.00
R5698:Kif9	UTSW	9	110510464	missense	probably benign
R5758:Kif9	UTSW	9	110489879	missense	probably damaging	1.00
R5986:Kif9	UTSW	9	110490026	missense	probably benign	0.05
R6103:Kif9	UTSW	9	110489849	missense	possibly damaging	0.82
R6247:Kif9	UTSW	9	110488544	missense	possibly damaging	0.78
R6255:Kif9	UTSW	9	110517834	splice site	probably null
R6991:Kif9	UTSW	9	110494622	missense	probably damaging	1.00
R7113:Kif9	UTSW	9	110506664	missense	probably damaging	1.00
R7459:Kif9	UTSW	9	110519041	missense	probably damaging	1.00
R7593:Kif9	UTSW	9	110521353	missense	possibly damaging	0.54
R7892:Kif9	UTSW	9	110514614	missense	not run
R8050:Kif9	UTSW	9	110519140	missense	probably damaging	1.00
R8370:Kif9	UTSW	9	110488613	missense	probably damaging	1.00
R8549:Kif9	UTSW	9	110514419	splice site	probably null
R8751:Kif9	UTSW	9	110501656	missense	probably benign	0.03
R8830:Kif9	UTSW	9	110524930	missense	probably damaging	1.00
R9489:Kif9	UTSW	9	110517642	missense	probably benign	0.01
R9519:Kif9	UTSW	9	110521276	missense	probably damaging	0.98
R9605:Kif9	UTSW	9	110517642	missense	probably benign	0.01
R9776:Kif9	UTSW	9	110521330	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGACTTTACTGACCAGTGATTG -3'
(R):5'- GGATCCTCAGAGTCCTAGATAAAG -3'

Sequencing Primer
(F):5'- TGCCCTTGAACTCACGGAGATC -3'
(R):5'- CCTCAGAGTCCTAGATAAAGTAACAG -3'

Posted On

2014-09-17