Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Kif9'

15303

Institutional Source

Beutler Lab

Gene Symbol

Kif9

Ensembl Gene

ENSMUSG00000032489

Gene Name

kinesin family member 9

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

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

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

110306062-110354242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110348679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 738 (C738Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142734 (fasta)

Gene Model

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

AlphaFold

Q9WV04

Predicted Effect

probably benign
Transcript: ENSMUST00000061155
AA Change: C738Y

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: C738Y

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 benign
Transcript: ENSMUST00000084952
AA Change: C738Y

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: C738Y

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 benign
Transcript: ENSMUST00000197248
AA Change: C738Y

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: C738Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 76.6%
3x: 64.3%
10x: 35.1%
20x: 16.8%

Validation Efficiency

87% (59/68)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Chrna7	T	G	7: 62,798,354 (GRCm39)	K109N	possibly damaging	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Farp1	A	G	14: 121,492,841 (GRCm39)	H481R	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,354,563 (GRCm39)		probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Nat8f5	C	A	6: 85,794,868 (GRCm39)	A31S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Plcz1	A	T	6: 139,966,174 (GRCm39)		probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Ppp2r2c	A	G	5: 37,084,883 (GRCm39)	I115V	probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trim14	A	G	4: 46,523,627 (GRCm39)	L137P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Usp50	T	C	2: 126,619,895 (GRCm39)	E139G	possibly damaging	Het
Zfp949	A	T	9: 88,449,693 (GRCm39)		probably benign	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	Het

Other mutations in Kif9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Kif9	APN	9	110,314,138 (GRCm39)	missense	probably benign	0.03
IGL02273:Kif9	APN	9	110,339,538 (GRCm39)	missense	probably damaging	0.99
IGL02818:Kif9	APN	9	110,314,217 (GRCm39)	missense	probably damaging	1.00
R0034:Kif9	UTSW	9	110,348,679 (GRCm39)	missense	probably benign	0.23
R0047:Kif9	UTSW	9	110,314,106 (GRCm39)	missense	probably benign	0.05
R0047:Kif9	UTSW	9	110,314,106 (GRCm39)	missense	probably benign	0.05
R0137:Kif9	UTSW	9	110,314,106 (GRCm39)	missense	probably damaging	1.00
R0594:Kif9	UTSW	9	110,340,408 (GRCm39)	missense	probably benign	0.22
R1503:Kif9	UTSW	9	110,339,506 (GRCm39)	missense	possibly damaging	0.89
R1657:Kif9	UTSW	9	110,319,034 (GRCm39)	missense	possibly damaging	0.82
R1826:Kif9	UTSW	9	110,346,701 (GRCm39)	missense	probably benign	0.34
R1856:Kif9	UTSW	9	110,346,787 (GRCm39)	missense	probably null	1.00
R2076:Kif9	UTSW	9	110,314,100 (GRCm39)	splice site	probably null
R3407:Kif9	UTSW	9	110,348,208 (GRCm39)	missense	probably damaging	1.00
R4247:Kif9	UTSW	9	110,325,027 (GRCm39)	critical splice donor site	probably null
R4487:Kif9	UTSW	9	110,323,552 (GRCm39)	missense	probably null	1.00
R4515:Kif9	UTSW	9	110,318,935 (GRCm39)	missense	probably benign	0.38
R4880:Kif9	UTSW	9	110,330,703 (GRCm39)	missense	probably damaging	0.98
R5024:Kif9	UTSW	9	110,312,161 (GRCm39)	missense	possibly damaging	0.81
R5093:Kif9	UTSW	9	110,318,965 (GRCm39)	missense	probably damaging	1.00
R5181:Kif9	UTSW	9	110,350,336 (GRCm39)	missense	probably damaging	1.00
R5362:Kif9	UTSW	9	110,319,012 (GRCm39)	missense	probably damaging	0.99
R5379:Kif9	UTSW	9	110,350,371 (GRCm39)	missense	probably benign	0.00
R5628:Kif9	UTSW	9	110,343,621 (GRCm39)	nonsense	probably null
R5653:Kif9	UTSW	9	110,353,999 (GRCm39)	missense	probably damaging	1.00
R5698:Kif9	UTSW	9	110,339,532 (GRCm39)	missense	probably benign
R5758:Kif9	UTSW	9	110,318,947 (GRCm39)	missense	probably damaging	1.00
R5986:Kif9	UTSW	9	110,319,094 (GRCm39)	missense	probably benign	0.05
R6103:Kif9	UTSW	9	110,318,917 (GRCm39)	missense	possibly damaging	0.82
R6247:Kif9	UTSW	9	110,317,612 (GRCm39)	missense	possibly damaging	0.78
R6255:Kif9	UTSW	9	110,346,902 (GRCm39)	splice site	probably null
R6991:Kif9	UTSW	9	110,323,690 (GRCm39)	missense	probably damaging	1.00
R7113:Kif9	UTSW	9	110,335,732 (GRCm39)	missense	probably damaging	1.00
R7459:Kif9	UTSW	9	110,348,109 (GRCm39)	missense	probably damaging	1.00
R7593:Kif9	UTSW	9	110,350,421 (GRCm39)	missense	possibly damaging	0.54
R7892:Kif9	UTSW	9	110,343,682 (GRCm39)	missense	not run
R8050:Kif9	UTSW	9	110,348,208 (GRCm39)	missense	probably damaging	1.00
R8370:Kif9	UTSW	9	110,317,681 (GRCm39)	missense	probably damaging	1.00
R8549:Kif9	UTSW	9	110,343,487 (GRCm39)	splice site	probably null
R8751:Kif9	UTSW	9	110,330,724 (GRCm39)	missense	probably benign	0.03
R8830:Kif9	UTSW	9	110,353,998 (GRCm39)	missense	probably damaging	1.00
R9489:Kif9	UTSW	9	110,346,710 (GRCm39)	missense	probably benign	0.01
R9519:Kif9	UTSW	9	110,350,344 (GRCm39)	missense	probably damaging	0.98
R9605:Kif9	UTSW	9	110,346,710 (GRCm39)	missense	probably benign	0.01
R9776:Kif9	UTSW	9	110,350,398 (GRCm39)	missense	probably benign	0.01

Posted On

2012-12-17