Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03327:Kif5b'

416687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif5b

Ensembl Gene

ENSMUSG00000006740

Gene Name

kinesin family member 5B

Synonyms

kinesin heavy chain, Khc

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

6201002-6242174 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6222767 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 355 (R355W)

Ref Sequence

ENSEMBL: ENSMUSP00000025083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025083] [ENSMUST00000163210]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025083
AA Change: R355W

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: R355W

Domain	Start	End	E-Value	Type
KISc	6	333	4.48e-172	SMART
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	412	564	N/A	INTRINSIC
coiled coil region	596	802	N/A	INTRINSIC
coiled coil region	825	914	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163210
AA Change: R355W

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: R355W

Domain	Start	End	E-Value	Type
KISc	6	333	4.48e-172	SMART
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	412	564	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168187

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos during organogenesis, exhibit growth retardation and fail to turn during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,761,670	N79S	probably damaging	Het
Adcy8	T	C	15: 64,920,267	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,623,934	T1647A	probably benign	Het
Ano3	T	C	2: 110,697,178	I562V	possibly damaging	Het
Ash1l	C	T	3: 89,023,083	P1956S	probably benign	Het
Cd160	C	T	3: 96,805,533		probably null	Het
Chd3	G	T	11: 69,350,186	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cntnap3	G	A	13: 64,887,768	Q44*	probably null	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Col6a6	T	C	9: 105,767,234	D1285G	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,858,624	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,041,691		probably benign	Het
Fat1	A	C	8: 44,950,468	K85N	probably damaging	Het
Fnip2	T	C	3: 79,518,081	E69G	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Galc	A	G	12: 98,207,476		probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Hibch	G	A	1: 52,920,380		probably benign	Het
Hmmr	A	G	11: 40,715,415	C243R	probably damaging	Het
Il25	T	C	14: 54,935,360		probably benign	Het
Kifc3	C	T	8: 95,108,432	D242N	probably damaging	Het
Lig1	T	G	7: 13,303,855	I677S	probably damaging	Het
Lrig1	G	T	6: 94,606,123	A1004E	probably benign	Het
Nras	A	G	3: 103,059,024	T35A	probably damaging	Het
Nt5c1b	C	T	12: 10,374,861	Q136*	probably null	Het
Olfr1046	C	T	2: 86,217,274	W145*	probably null	Het
Olfr1278	A	T	2: 111,292,462	N65Y	probably damaging	Het
Olfr815	T	G	10: 129,902,582	I43L	possibly damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Plpp2	T	C	10: 79,530,984		probably null	Het
Ptpre	G	A	7: 135,672,822		probably null	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Sh3bp4	C	A	1: 89,144,163	Y244*	probably null	Het
Trip11	A	T	12: 101,883,418	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Wdr35	T	C	12: 8,978,694		probably benign	Het
Xdh	T	C	17: 73,916,792	E535G	probably benign	Het

Other mutations in Kif5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Kif5b	APN	18	6226973	splice site	probably benign
IGL01697:Kif5b	APN	18	6226871	missense	possibly damaging	0.68
IGL01759:Kif5b	APN	18	6225647	missense	probably damaging	0.99
IGL01759:Kif5b	APN	18	6211019	unclassified	probably benign
IGL02027:Kif5b	APN	18	6209089	missense	possibly damaging	0.81
IGL02553:Kif5b	APN	18	6220914	missense	probably benign	0.00
IGL03346:Kif5b	APN	18	6222767	missense	probably damaging	0.96
e-enhancer	UTSW	18	6213272	missense	probably benign	0.00
R0440:Kif5b	UTSW	18	6226980	splice site	probably benign
R0743:Kif5b	UTSW	18	6209192	missense	probably damaging	1.00
R1241:Kif5b	UTSW	18	6214044	missense	probably benign	0.07
R1386:Kif5b	UTSW	18	6226383	missense	probably damaging	0.99
R1720:Kif5b	UTSW	18	6213427	missense	probably benign
R1964:Kif5b	UTSW	18	6209059	missense	possibly damaging	0.85
R2061:Kif5b	UTSW	18	6226377	splice site	probably null
R2091:Kif5b	UTSW	18	6213248	nonsense	probably null
R4510:Kif5b	UTSW	18	6214011	missense	probably benign	0.01
R4511:Kif5b	UTSW	18	6214011	missense	probably benign	0.01
R4515:Kif5b	UTSW	18	6208257	missense	probably benign
R4517:Kif5b	UTSW	18	6213272	missense	probably benign	0.00
R4690:Kif5b	UTSW	18	6216759	missense	probably benign
R4838:Kif5b	UTSW	18	6216869	missense	probably damaging	1.00
R4865:Kif5b	UTSW	18	6222912	intron	probably benign
R4906:Kif5b	UTSW	18	6220930	missense	probably benign	0.00
R5260:Kif5b	UTSW	18	6211058	missense	probably damaging	1.00
R5290:Kif5b	UTSW	18	6234882	missense	probably damaging	1.00
R5517:Kif5b	UTSW	18	6220954	missense	probably benign	0.00
R5588:Kif5b	UTSW	18	6225787	missense	probably benign	0.03
R5621:Kif5b	UTSW	18	6226883	missense	probably benign	0.41
R6269:Kif5b	UTSW	18	6223558	missense	possibly damaging	0.88
R6377:Kif5b	UTSW	18	6212562	missense	probably damaging	1.00
R6955:Kif5b	UTSW	18	6211070	missense	probably benign	0.09
R7256:Kif5b	UTSW	18	6225340	missense	probably damaging	0.99
R7536:Kif5b	UTSW	18	6216235	missense	probably benign	0.05

Posted On

2016-08-02