Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01894:Kif5a'

179330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif5a

Ensembl Gene

ENSMUSG00000074657

Gene Name

kinesin family member 5A

Synonyms

Kif5, Kns, Khc, D10Bwg0738e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01894

Quality Score

Status

Chromosome

Chromosomal Location

127061565-127099217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127098648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 40 (V40I)

Ref Sequence

ENSEMBL: ENSMUSP00000151402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026479] [ENSMUST00000099172] [ENSMUST00000217895] [ENSMUST00000218298]

AlphaFold

P33175

Predicted Effect

probably benign
Transcript: ENSMUST00000026479

SMART Domains

Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410

Domain	Start	End	E-Value	Type
Pfam:Dynamitin	16	400	7.1e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099172
AA Change: V40I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: V40I

Domain	Start	End	E-Value	Type
KISc	7	335	7.38e-173	SMART
low complexity region	340	362	N/A	INTRINSIC
coiled coil region	408	539	N/A	INTRINSIC
low complexity region	591	603	N/A	INTRINSIC
coiled coil region	632	800	N/A	INTRINSIC
coiled coil region	822	905	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217692

Predicted Effect

probably benign
Transcript: ENSMUST00000217895
AA Change: V40I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

unknown
Transcript: ENSMUST00000218298
AA Change: R33H

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes complete neonatal lethality. Homozygotes delivered by caesarian section are alive at E18.5 but usually die within minutes after birth, exhibiting an abnormal breathing pattern, atelectasis, cyanosis, and abnormal motor neuron morphology in the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,865 (GRCm39)	I530L	probably benign	Het
Adam3	T	C	8: 25,177,954 (GRCm39)	D653G	probably benign	Het
Car13	T	C	3: 14,726,525 (GRCm39)	F227S	probably damaging	Het
Cdc27	T	C	11: 104,417,747 (GRCm39)	N300S	probably benign	Het
Fat3	C	T	9: 16,287,145 (GRCm39)	V793I	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpa33	T	A	1: 165,992,785 (GRCm39)	D299E	probably benign	Het
Lama3	A	G	18: 12,705,121 (GRCm39)	H1455R	probably benign	Het
Lamc1	T	C	1: 153,122,828 (GRCm39)	K751E	possibly damaging	Het
Nek5	T	A	8: 22,603,835 (GRCm39)	H114L	probably damaging	Het
Nipal1	G	A	5: 72,820,882 (GRCm39)	A37T	probably benign	Het
Or13a24	T	C	7: 140,154,683 (GRCm39)	Y206H	possibly damaging	Het
Or5b101	G	T	19: 13,005,649 (GRCm39)	L15I	probably damaging	Het
Or5b96	T	C	19: 12,867,007 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,504,175 (GRCm39)	Y622H	possibly damaging	Het
Pknox2	G	T	9: 36,835,038 (GRCm39)	H144N	probably damaging	Het
Ppp4r4	A	G	12: 103,559,397 (GRCm39)	Y526C	probably damaging	Het
Prdm10	A	G	9: 31,227,557 (GRCm39)	D54G	probably damaging	Het
Rpn2	C	T	2: 157,136,093 (GRCm39)	T167I	probably benign	Het
Slc22a30	G	T	19: 8,364,021 (GRCm39)	H218Q	probably benign	Het
Supt6	A	G	11: 78,113,664 (GRCm39)	S878P	probably benign	Het
Tmem184c	A	T	8: 78,323,775 (GRCm39)	C362*	probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wscd2	C	T	5: 113,710,357 (GRCm39)	R294W	probably damaging	Het

Other mutations in Kif5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Kif5a	APN	10	127,075,065 (GRCm39)	missense	probably benign
IGL01405:Kif5a	APN	10	127,081,859 (GRCm39)	missense	probably damaging	1.00
IGL01637:Kif5a	APN	10	127,081,237 (GRCm39)	missense	possibly damaging	0.94
IGL01978:Kif5a	APN	10	127,081,608 (GRCm39)	missense	probably benign
IGL02039:Kif5a	APN	10	127,069,736 (GRCm39)	missense	possibly damaging	0.95
IGL02052:Kif5a	APN	10	127,079,368 (GRCm39)	missense	probably damaging	1.00
IGL02336:Kif5a	APN	10	127,078,565 (GRCm39)	missense	possibly damaging	0.87
IGL02352:Kif5a	APN	10	127,079,370 (GRCm39)	missense	probably damaging	1.00
IGL02359:Kif5a	APN	10	127,079,370 (GRCm39)	missense	probably damaging	1.00
IGL02834:Kif5a	APN	10	127,081,625 (GRCm39)	missense	probably benign	0.00
IGL03101:Kif5a	APN	10	127,071,478 (GRCm39)	unclassified	probably benign
brittany	UTSW	10	127,084,123 (GRCm39)	missense	probably damaging	1.00
spaniel	UTSW	10	127,066,447 (GRCm39)	missense	probably benign	0.00
R0463:Kif5a	UTSW	10	127,071,521 (GRCm39)	missense	probably benign	0.00
R0790:Kif5a	UTSW	10	127,081,878 (GRCm39)	intron	probably benign
R1070:Kif5a	UTSW	10	127,081,275 (GRCm39)	missense	probably benign	0.00
R1404:Kif5a	UTSW	10	127,081,311 (GRCm39)	missense	probably benign	0.12
R1404:Kif5a	UTSW	10	127,081,311 (GRCm39)	missense	probably benign	0.12
R1502:Kif5a	UTSW	10	127,081,310 (GRCm39)	missense	probably damaging	1.00
R1812:Kif5a	UTSW	10	127,077,879 (GRCm39)	missense	probably benign	0.03
R1837:Kif5a	UTSW	10	127,072,684 (GRCm39)	nonsense	probably null
R1838:Kif5a	UTSW	10	127,072,684 (GRCm39)	nonsense	probably null
R2012:Kif5a	UTSW	10	127,075,044 (GRCm39)	missense	probably benign
R2072:Kif5a	UTSW	10	127,081,238 (GRCm39)	missense	probably damaging	0.99
R2073:Kif5a	UTSW	10	127,081,238 (GRCm39)	missense	probably damaging	0.99
R2074:Kif5a	UTSW	10	127,081,238 (GRCm39)	missense	probably damaging	0.99
R2075:Kif5a	UTSW	10	127,081,238 (GRCm39)	missense	probably damaging	0.99
R2440:Kif5a	UTSW	10	127,067,205 (GRCm39)	missense	probably benign	0.34
R3157:Kif5a	UTSW	10	127,081,310 (GRCm39)	missense	probably damaging	1.00
R3688:Kif5a	UTSW	10	127,078,643 (GRCm39)	missense	probably damaging	1.00
R3740:Kif5a	UTSW	10	127,079,337 (GRCm39)	missense	probably damaging	1.00
R4782:Kif5a	UTSW	10	127,066,823 (GRCm39)	missense	probably benign	0.01
R5049:Kif5a	UTSW	10	127,075,708 (GRCm39)	missense	possibly damaging	0.93
R5723:Kif5a	UTSW	10	127,066,898 (GRCm39)	frame shift	probably null
R5764:Kif5a	UTSW	10	127,066,898 (GRCm39)	frame shift	probably null
R5838:Kif5a	UTSW	10	127,081,310 (GRCm39)	missense	probably damaging	1.00
R5903:Kif5a	UTSW	10	127,066,447 (GRCm39)	missense	probably benign	0.00
R6299:Kif5a	UTSW	10	127,069,690 (GRCm39)	missense	probably damaging	1.00
R6384:Kif5a	UTSW	10	127,078,644 (GRCm39)	missense	probably damaging	1.00
R6629:Kif5a	UTSW	10	127,084,123 (GRCm39)	missense	probably damaging	1.00
R7463:Kif5a	UTSW	10	127,079,593 (GRCm39)	missense	probably damaging	0.97
R7558:Kif5a	UTSW	10	127,083,948 (GRCm39)	missense	probably damaging	1.00
R7567:Kif5a	UTSW	10	127,073,248 (GRCm39)	missense	probably benign	0.00
R7733:Kif5a	UTSW	10	127,072,609 (GRCm39)	missense	probably benign	0.00
R7853:Kif5a	UTSW	10	127,071,537 (GRCm39)	nonsense	probably null
R7869:Kif5a	UTSW	10	127,079,343 (GRCm39)	missense	probably damaging	1.00
R7896:Kif5a	UTSW	10	127,077,873 (GRCm39)	missense	probably benign
R8085:Kif5a	UTSW	10	127,075,178 (GRCm39)	missense	probably benign	0.00
R8426:Kif5a	UTSW	10	127,067,358 (GRCm39)	missense	probably damaging	0.99
R8750:Kif5a	UTSW	10	127,083,909 (GRCm39)	missense	probably damaging	1.00
R9206:Kif5a	UTSW	10	127,079,227 (GRCm39)	critical splice donor site	probably null
R9497:Kif5a	UTSW	10	127,079,353 (GRCm39)	missense	probably damaging	1.00
R9747:Kif5a	UTSW	10	127,074,622 (GRCm39)	missense	probably benign	0.00
Z1177:Kif5a	UTSW	10	127,072,836 (GRCm39)	nonsense	probably null
Z1177:Kif5a	UTSW	10	127,065,692 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07