Mutagenetix > Incidental Mutation

Incidental Mutation 'R7459:Kif9'

578329

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

045533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110476958-110525179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110519041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 644 (Y644C)

Ref Sequence

ENSEMBL: ENSMUSP00000057896 (fasta)

Gene Model

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

AlphaFold

Q9WV04

Predicted Effect

probably damaging
Transcript: ENSMUST00000061155
AA Change: Y644C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: Y644C

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: Y644C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: Y644C

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: Y644C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: Y644C

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	G	8: 84,167,352	S383A	probably benign	Het
Adgre1	T	A	17: 57,449,933	V730E	probably damaging	Het
Agbl1	G	A	7: 76,420,066	D449N	not run	Het
Agr2	A	T	12: 35,997,453	E96V	probably benign	Het
Als2cr12	T	G	1: 58,691,752	E48D	possibly damaging	Het
Atp1a2	A	C	1: 172,287,295	S308A	probably benign	Het
Birc7	T	C	2: 180,929,357	S71P	possibly damaging	Het
Camk2g	T	C	14: 20,779,207	I73V	probably damaging	Het
Carf	C	A	1: 60,128,039	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,947,457	Q665*	probably null	Het
Cd79a	A	T	7: 24,899,142	T39S	possibly damaging	Het
Ces5a	C	A	8: 93,535,741		probably benign	Het
Dkk2	C	A	3: 132,175,029	T145N	probably benign	Het
Dot1l	C	T	10: 80,773,173	A188V	probably damaging	Het
Egfr	T	A	11: 16,896,967	V788D	probably damaging	Het
Esyt3	T	A	9: 99,358,064	H109L	probably benign	Het
Fam129c	T	A	8: 71,605,027	C516S	possibly damaging	Het
Fam234b	C	T	6: 135,211,901	T168I	probably benign	Het
Fan1	G	T	7: 64,348,966	S936Y	probably damaging	Het
Fat2	T	C	11: 55,303,919	E1098G	probably damaging	Het
Fcgbp	A	G	7: 28,107,285	D2226G	possibly damaging	Het
Flvcr2	T	C	12: 85,747,057	V69A	probably benign	Het
Foxb2	T	A	19: 16,873,072	H190L	unknown	Het
Fut4	C	T	9: 14,751,306	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,575,652	A91V	probably benign	Het
Hip1	A	G	5: 135,414,297	S961P	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Hspbp1	G	T	7: 4,684,578	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,980,812	E81K	probably benign	Het
Isg20l2	T	C	3: 87,932,178	L232P	possibly damaging	Het
Isx	A	G	8: 74,892,764	Y181C	probably benign	Het
Lin7c	T	A	2: 109,897,337	V177D	probably benign	Het
Lpin3	T	C	2: 160,897,300	S343P	probably benign	Het
Mat1a	A	T	14: 41,120,184	Q246L	probably benign	Het
Mlkl	T	C	8: 111,333,530	I75V	probably benign	Het
Ndufa7	T	A	17: 33,838,166	S107T	probably damaging	Het
Nip7	T	A	8: 107,057,336	C69*	probably null	Het
Nipa2	A	T	7: 55,933,341	W219R	probably damaging	Het
Oas2	A	C	5: 120,749,710	S22A	unknown	Het
Obscn	A	G	11: 59,131,657	V754A	probably benign	Het
Olfr1249	G	A	2: 89,630,668	P77S	probably damaging	Het
Osbpl1a	C	T	18: 12,933,585	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,479,553	Y522F	probably benign	Het
Pced1a	T	G	2: 130,419,824	D303A	possibly damaging	Het
Peli1	T	A	11: 21,148,190	Y308*	probably null	Het
Pfas	T	A	11: 68,988,655	R243W		Het
Pik3r5	C	A	11: 68,492,590	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,902,428	I1135N		Het
Prune1	C	A	3: 95,281,710		probably benign	Het
Ptpn4	T	A	1: 119,659,834	K926N	probably damaging	Het
Ptpre	A	G	7: 135,667,600	N277S	probably benign	Het
Raver2	A	T	4: 101,107,213	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,910,634	V187A	probably benign	Het
Rgs3	A	G	4: 62,625,154	E242G	probably benign	Het
Rims2	T	G	15: 39,517,839	S1055R	probably benign	Het
Rnf146	T	C	10: 29,347,644	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,140,559	S455G	probably benign	Het
Samm50	T	C	15: 84,195,856		probably null	Het
Sh3bgr	A	G	16: 96,205,922	K31E	probably benign	Het
Slc39a8	T	C	3: 135,886,911	I449T	probably damaging	Het
Slc5a3	A	T	16: 92,079,017	Y654F	probably benign	Het
Spata1	T	A	3: 146,476,222	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,799,353		probably benign	Het
Stard13	A	C	5: 151,047,599	S848A	probably damaging	Het
Stat2	A	G	10: 128,276,565	S25G	possibly damaging	Het
Tet2	C	T	3: 133,480,289	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tmem266	T	C	9: 55,396,599	L3P	unknown	Het
Tns3	A	T	11: 8,492,793	D523E	probably benign	Het
Trim3	A	T	7: 105,617,808	S455T	probably damaging	Het
Trim31	T	C	17: 36,909,662	V490A	probably damaging	Het
Trmt11	A	C	10: 30,590,043	N168K	probably benign	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Ttn	C	A	2: 76,919,138	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,519,803	D377N	probably damaging	Het
Ubl7	A	G	9: 57,914,592	T75A	probably damaging	Het
Ugt2b34	T	G	5: 86,901,275	D297A	possibly damaging	Het
Usp34	A	T	11: 23,364,458	H800L	possibly damaging	Het
Utp3	C	A	5: 88,555,553	L314M	probably damaging	Het
Zer1	A	G	2: 30,113,325	Y27H	probably damaging	Het

Other mutations in Kif9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Kif9	APN	9	110,485,070 (GRCm38)	missense	probably benign	0.03
IGL02273:Kif9	APN	9	110,510,470 (GRCm38)	missense	probably damaging	0.99
IGL02818:Kif9	APN	9	110,485,149 (GRCm38)	missense	probably damaging	1.00
R0034:Kif9	UTSW	9	110,519,611 (GRCm38)	missense	probably benign	0.23
R0034:Kif9	UTSW	9	110,519,611 (GRCm38)	missense	probably benign	0.23
R0047:Kif9	UTSW	9	110,485,038 (GRCm38)	missense	probably benign	0.05
R0047:Kif9	UTSW	9	110,485,038 (GRCm38)	missense	probably benign	0.05
R0137:Kif9	UTSW	9	110,485,038 (GRCm38)	missense	probably damaging	1.00
R0594:Kif9	UTSW	9	110,511,340 (GRCm38)	missense	probably benign	0.22
R1503:Kif9	UTSW	9	110,510,438 (GRCm38)	missense	possibly damaging	0.89
R1657:Kif9	UTSW	9	110,489,966 (GRCm38)	missense	possibly damaging	0.82
R1826:Kif9	UTSW	9	110,517,633 (GRCm38)	missense	probably benign	0.34
R1856:Kif9	UTSW	9	110,517,719 (GRCm38)	missense	probably null	1.00
R2076:Kif9	UTSW	9	110,485,032 (GRCm38)	splice site	probably null
R3407:Kif9	UTSW	9	110,519,140 (GRCm38)	missense	probably damaging	1.00
R4247:Kif9	UTSW	9	110,495,959 (GRCm38)	critical splice donor site	probably null
R4487:Kif9	UTSW	9	110,494,484 (GRCm38)	missense	probably null	1.00
R4515:Kif9	UTSW	9	110,489,867 (GRCm38)	missense	probably benign	0.38
R4880:Kif9	UTSW	9	110,501,635 (GRCm38)	missense	probably damaging	0.98
R5024:Kif9	UTSW	9	110,483,093 (GRCm38)	missense	possibly damaging	0.81
R5093:Kif9	UTSW	9	110,489,897 (GRCm38)	missense	probably damaging	1.00
R5181:Kif9	UTSW	9	110,521,268 (GRCm38)	missense	probably damaging	1.00
R5362:Kif9	UTSW	9	110,489,944 (GRCm38)	missense	probably damaging	0.99
R5379:Kif9	UTSW	9	110,521,303 (GRCm38)	missense	probably benign	0.00
R5628:Kif9	UTSW	9	110,514,553 (GRCm38)	nonsense	probably null
R5653:Kif9	UTSW	9	110,524,931 (GRCm38)	missense	probably damaging	1.00
R5698:Kif9	UTSW	9	110,510,464 (GRCm38)	missense	probably benign
R5758:Kif9	UTSW	9	110,489,879 (GRCm38)	missense	probably damaging	1.00
R5986:Kif9	UTSW	9	110,490,026 (GRCm38)	missense	probably benign	0.05
R6103:Kif9	UTSW	9	110,489,849 (GRCm38)	missense	possibly damaging	0.82
R6247:Kif9	UTSW	9	110,488,544 (GRCm38)	missense	possibly damaging	0.78
R6255:Kif9	UTSW	9	110,517,834 (GRCm38)	splice site	probably null
R6991:Kif9	UTSW	9	110,494,622 (GRCm38)	missense	probably damaging	1.00
R7113:Kif9	UTSW	9	110,506,664 (GRCm38)	missense	probably damaging	1.00
R7593:Kif9	UTSW	9	110,521,353 (GRCm38)	missense	possibly damaging	0.54
R7892:Kif9	UTSW	9	110,514,614 (GRCm38)	missense	not run
R8050:Kif9	UTSW	9	110,519,140 (GRCm38)	missense	probably damaging	1.00
R8370:Kif9	UTSW	9	110,488,613 (GRCm38)	missense	probably damaging	1.00
R8549:Kif9	UTSW	9	110,514,419 (GRCm38)	splice site	probably null
R8751:Kif9	UTSW	9	110,501,656 (GRCm38)	missense	probably benign	0.03
R8830:Kif9	UTSW	9	110,524,930 (GRCm38)	missense	probably damaging	1.00
R9489:Kif9	UTSW	9	110,517,642 (GRCm38)	missense	probably benign	0.01
R9519:Kif9	UTSW	9	110,521,276 (GRCm38)	missense	probably damaging	0.98
R9605:Kif9	UTSW	9	110,517,642 (GRCm38)	missense	probably benign	0.01
R9776:Kif9	UTSW	9	110,521,330 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCCTGTCTGTGGATTTGC -3'
(R):5'- TCTCTTGACCTTAAGGGGCCTG -3'

Sequencing Primer
(F):5'- CTGTGGAAGCCTCACCTTC -3'
(R):5'- TTAAGGGGCCTGCCAACCTTC -3'

Posted On

2019-10-07