Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Kif9'

543852

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

045097-MU

Accession Numbers

Essential gene?

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

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110476958-110525179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110494622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 236 (Y236H)

Ref Sequence

ENSEMBL: ENSMUSP00000142689 (fasta)

Gene Model

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

AlphaFold

Q9WV04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061155
AA Change: Y236H

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: Y236H

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

possibly damaging
Transcript: ENSMUST00000084952
AA Change: Y236H

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: Y236H

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: Y236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: Y236H

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: Y236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: Y236H

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 benign
Transcript: ENSMUST00000198858

SMART Domains

Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446 (GRCm38)	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206 (GRCm38)	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108 (GRCm38)	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122 (GRCm38)	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675 (GRCm38)	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095 (GRCm38)	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304 (GRCm38)	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919 (GRCm38)		probably null	Het
Coq8a	T	C	1: 180,179,068 (GRCm38)	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355 (GRCm38)	S407N	probably benign	Het
Ddi2	A	G	4: 141,685,250 (GRCm38)	V117A	probably benign	Het
Ddx42	G	A	11: 106,239,144 (GRCm38)	V421I	probably damaging	Het
Dip2c	C	T	13: 9,634,832 (GRCm38)	S1232F	probably damaging	Het
Dip2c	T	A	13: 9,551,860 (GRCm38)	L285*	probably null	Het
Dner	T	A	1: 84,476,402 (GRCm38)	R402*	probably null	Het
Dpysl3	A	T	18: 43,353,891 (GRCm38)	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657 (GRCm38)	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628 (GRCm38)	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489 (GRCm38)	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136 (GRCm38)	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374 (GRCm38)	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576 (GRCm38)		probably benign	Het
Hao2	T	A	3: 98,876,752 (GRCm38)	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169 (GRCm38)	V409A	probably damaging	Het
Kri1	T	C	9: 21,287,754 (GRCm38)		probably benign	Het
Lig4	A	T	8: 9,971,098 (GRCm38)	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458 (GRCm38)	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884 (GRCm38)	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647 (GRCm38)	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941 (GRCm38)	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384 (GRCm38)	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800 (GRCm38)	E1515*	probably null	Het
Npw	A	C	17: 24,658,055 (GRCm38)	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418 (GRCm38)	S57P	probably damaging	Het
Olfr1000	T	C	2: 85,608,248 (GRCm38)	I221V	possibly damaging	Het
Olfr1145	G	A	2: 87,810,443 (GRCm38)	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748 (GRCm38)	L213F	probably benign	Het
Olfr493	T	A	7: 108,346,088 (GRCm38)	N298Y	possibly damaging	Het
Olfr677	T	C	7: 105,056,564 (GRCm38)	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907 (GRCm38)	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Pla2g2e	G	A	4: 138,880,675 (GRCm38)	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,910,194 (GRCm38)	V107M	probably damaging	Het
Prorsd1	A	C	11: 29,514,486 (GRCm38)		probably benign	Het
Prox2	A	G	12: 85,087,391 (GRCm38)	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345 (GRCm38)	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687 (GRCm38)	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915 (GRCm38)	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363 (GRCm38)	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310 (GRCm38)		probably benign	Het
Sec16a	G	A	2: 26,430,486 (GRCm38)	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833 (GRCm38)	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165 (GRCm38)	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868 (GRCm38)		probably benign	Het
Spock3	A	G	8: 63,355,381 (GRCm38)	*437W	probably null	Het
Sugct	T	A	13: 17,554,380 (GRCm38)	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006 (GRCm38)	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493 (GRCm38)	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040 (GRCm38)	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884 (GRCm38)	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314 (GRCm38)	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745 (GRCm38)	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110 (GRCm38)	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856 (GRCm38)	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521 (GRCm38)	R213Q	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
R7113:Kif9	UTSW	9	110,506,664 (GRCm38)	missense	probably damaging	1.00
R7459:Kif9	UTSW	9	110,519,041 (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'- AACTCATCCAGGTCGCACTG -3'
(R):5'- CCCCAGGCTTACGTCTAACATAG -3'

Sequencing Primer
(F):5'- AGGTCGCACTGCATTTTCAC -3'
(R):5'- CAGGCTTACGTCTAACATAGGCATG -3'

Posted On

2019-05-13