Mutagenetix > Incidental Mutations

Incidental Mutation 'R0137:Kif9'

22048

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

038422-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0137 (G1)

Quality Score

182

Status

Validated (trace)

Chromosome

Chromosomal Location

110476958-110525179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110485038 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 39 (I39F)

Ref Sequence

ENSEMBL: ENSMUSP00000142888 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061155
AA Change: I33F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: I33F

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 damaging
Transcript: ENSMUST00000084952
AA Change: I33F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: I33F

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 damaging
Transcript: ENSMUST00000197248
AA Change: I33F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: I33F

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 damaging
Transcript: ENSMUST00000198043
AA Change: I33F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: I33F

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 damaging
Transcript: ENSMUST00000198858
AA Change: I39F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: I39F

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

Meta Mutation Damage Score

0.2995

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	G	19: 8,740,857		probably benign	Het
4931406P16Rik	A	T	7: 34,239,219	W246R	probably damaging	Het
6430548M08Rik	A	T	8: 120,151,376	H190L	possibly damaging	Het
Adap1	A	G	5: 139,293,221		probably benign	Het
Adgra3	C	T	5: 49,963,840		probably benign	Het
Adgre5	A	T	8: 83,724,898	V527E	probably damaging	Het
Anapc5	A	T	5: 122,800,632	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,878,387	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,510,328	K137N	probably null	Het
Ccdc170	T	C	10: 4,546,950		probably benign	Het
Ccdc51	A	G	9: 109,091,630	E195G	probably damaging	Het
Cdc37	A	T	9: 21,142,130	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,222,431		probably benign	Het
Col6a2	C	A	10: 76,596,425	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,778,967	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,692,376		probably null	Het
Dhx58	A	G	11: 100,696,997	V578A	probably damaging	Het
Diaph1	G	T	18: 37,891,849	Q520K	unknown	Het
Eefsec	C	A	6: 88,297,649	K444N	probably benign	Het
Eftud2	A	T	11: 102,868,617	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,019,243	S209A	probably benign	Het
Exosc2	T	A	2: 31,672,485	Y46N	probably damaging	Het
F2	C	T	2: 91,625,730	G562D	probably damaging	Het
Fgf23	G	A	6: 127,080,165	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fstl5	G	A	3: 76,707,479	G179R	probably damaging	Het
Gart	T	A	16: 91,625,394	Q745L	probably benign	Het
Gmeb1	T	A	4: 132,232,108	M212L	probably benign	Het
Gpaa1	T	C	15: 76,334,781	Y548H	probably damaging	Het
Gpatch1	T	C	7: 35,287,242	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,390	I279F	probably damaging	Het
Hcls1	T	A	16: 36,951,174	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,786,388	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,751,006	S463P	probably benign	Het
Itgbl1	G	A	14: 123,840,686		probably null	Het
Izumo3	G	T	4: 92,147,200		probably benign	Het
Kcna5	A	T	6: 126,533,383	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,764,603	D409E	probably benign	Het
Klri2	C	T	6: 129,732,208	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,908,616	G445S	probably damaging	Het
Lctl	A	G	9: 64,117,698		probably benign	Het
Lrp4	T	C	2: 91,494,982	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,563,430	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,979,333		probably benign	Het
Mtor	T	C	4: 148,470,624	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,481,964	I721F	probably benign	Het
Nemp2	T	C	1: 52,645,429	V298A	probably benign	Het
Npc1l1	T	A	11: 6,228,148	K421*	probably null	Het
Npr1	C	T	3: 90,455,937	V879M	probably damaging	Het
Olfr1368	A	G	13: 21,142,166	V297A	possibly damaging	Het
Olfr638	A	G	7: 104,003,502	T82A	probably benign	Het
Osgin1	A	T	8: 119,442,480	I39F	possibly damaging	Het
Phip	G	C	9: 82,927,191		probably null	Het
Pkdrej	G	T	15: 85,821,567	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,980,526	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,897,446	T155M	probably damaging	Het
Prkdc	T	C	16: 15,740,332		probably null	Het
Prss1	A	G	6: 41,462,561	H76R	probably damaging	Het
Psg23	T	C	7: 18,614,633	D83G	probably benign	Het
Ptprd	T	A	4: 76,136,903	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,062,987	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,809,697	E1085G	probably benign	Het
Rccd1	A	G	7: 80,320,578	V97A	possibly damaging	Het
Rchy1	T	C	5: 91,957,599	S48G	probably benign	Het
Rnmt	G	A	18: 68,313,700	M265I	probably benign	Het
Robo3	A	T	9: 37,425,344	M376K	probably benign	Het
Rrp12	T	C	19: 41,873,850	D898G	probably benign	Het
Scg3	A	T	9: 75,663,180		probably benign	Het
Sec31b	A	T	19: 44,534,382	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,666,144	I387L	probably benign	Het
Speer4a	T	A	5: 26,035,984	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,332,201	D146G	possibly damaging	Het
Ss18	A	G	18: 14,655,143	M90T	probably damaging	Het
Syna	A	T	5: 134,559,460	F212I	possibly damaging	Het
Thsd1	A	G	8: 22,243,039	H34R	probably damaging	Het
Tmem143	T	C	7: 45,897,662	I84T	probably benign	Het
Trim50	T	C	5: 135,366,633	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,199,351		probably benign	Het
Ttc25	A	G	11: 100,563,568	E393G	probably damaging	Het
Ttll4	C	T	1: 74,679,692	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,124,720	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,262,254		probably benign	Het
Vcl	T	A	14: 20,987,015	L227*	probably null	Het
Vmn1r222	A	C	13: 23,232,804	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,219	A3889S	probably benign	Het
Vps8	T	C	16: 21,504,386		probably benign	Het
Zbtb44	A	G	9: 31,066,710	Y422C	probably damaging	Het
Zfp180	A	G	7: 24,105,733	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,915,866	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,611,686	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,770,534	E843G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCAGAGGCATCAGTCACACAG -3'
(R):5'- AAGGGCTTGAGAAACCGCATCC -3'

Sequencing Primer
(F):5'- tgtttgtttgtttgtttgtttgtttg -3'
(R):5'- GAGAAACCGCATCCTTGGC -3'

Posted On

2013-04-12