Mutagenetix > Incidental Mutation

Incidental Mutation 'R5628:Kif9'

441937

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

043167-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110476958-110525179 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 110514553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 547 (R547*)

Ref Sequence

ENSEMBL: ENSMUSP00000142689 (fasta)

Gene Model

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

AlphaFold

Q9WV04

Predicted Effect

probably null
Transcript: ENSMUST00000061155
AA Change: R547*

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: R547*

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
AA Change: R547*

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: R547*

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
AA Change: R547*

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: R547*

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
AA Change: R547*

SMART Domains

Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: R547*

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 40,755,710	D671G	probably benign	Het
Ap3b1	A	G	13: 94,477,048	D685G	unknown	Het
Atp6v1h	G	A	1: 5,135,889	W358*	probably null	Het
Atr	T	A	9: 95,874,226	Y830*	probably null	Het
B3galnt2	A	T	13: 13,995,152		probably null	Het
Casz1	T	C	4: 148,946,096	Y1191H	probably damaging	Het
Cdc40	T	G	10: 40,851,053	E169D	probably benign	Het
Cep55	C	T	19: 38,069,948	Q330*	probably null	Het
Clcn1	T	C	6: 42,298,889	V315A	probably damaging	Het
Cmya5	A	G	13: 93,089,710	F2957L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dync1li2	T	C	8: 104,420,592	N490S	possibly damaging	Het
Ephb3	T	C	16: 21,218,119	Y111H	probably damaging	Het
Fam186a	A	C	15: 99,941,747	H2205Q	possibly damaging	Het
Fat3	T	C	9: 15,966,096	Y3407C	probably damaging	Het
Fbxw8	A	G	5: 118,092,557	V393A	probably damaging	Het
Fnip1	A	T	11: 54,503,633	D965V	probably benign	Het
Gramd2	T	C	9: 59,707,723	M3T	probably benign	Het
Kctd15	T	C	7: 34,640,295	D283G	probably damaging	Het
Map4	A	G	9: 110,081,847	T245A	probably benign	Het
Mindy4	C	T	6: 55,260,594	L385F	probably damaging	Het
Myo7b	A	G	18: 31,974,187	C1252R	probably benign	Het
Myt1l	T	A	12: 29,811,621	I134N	unknown	Het
Olfr1022	T	A	2: 85,868,805	I71N	probably damaging	Het
Osgin2	T	A	4: 15,998,998	N208I	probably benign	Het
Polr2b	G	A	5: 77,313,216	V29M	probably damaging	Het
Prdm15	T	A	16: 97,799,623	M812L	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,216,273		probably benign	Het
Rev3l	T	A	10: 39,822,967	N1153K	probably damaging	Het
Rnf17	A	G	14: 56,486,952		probably null	Het
Rusc2	C	T	4: 43,425,348	T1151M	probably damaging	Het
Scrib	T	C	15: 76,049,540	T30A	possibly damaging	Het
Sephs1	T	C	2: 4,889,207	I73T	probably benign	Het
Sf3b1	C	T	1: 54,998,175	A861T	probably benign	Het
Shq1	A	G	6: 100,631,003	W316R	probably damaging	Het
Slc26a5	T	A	5: 21,816,976	D484V	probably benign	Het
Smg1	C	T	7: 118,154,701		probably benign	Het
Stard5	T	C	7: 83,633,147	I56T	probably benign	Het
Szt2	A	G	4: 118,373,217	V2653A	unknown	Het
Tmem217	A	T	17: 29,526,456	I100N	probably damaging	Het
Trpm2	C	T	10: 77,912,636	R1400Q	probably benign	Het
Vmn1r82	T	G	7: 12,305,278	N41K	probably damaging	Het
Zfp236	T	C	18: 82,657,122	D367G	probably damaging	Het
Zfyve1	A	T	12: 83,574,889	V244E	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
R2076:Kif9	UTSW	9	110485032	splice site	probably null
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
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'- TTCTCACTGCTAATGCCTGGGT -3'
(R):5'- GCAGATTGAGGTTGGGACAT -3'

Sequencing Primer
(F):5'- AATGCCTGGGTCTTGGTATTTCCC -3'
(R):5'- GGGACATTTTGCATGCATATTTG -3'

Posted On

2016-11-08