Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01405:Kif5a'

79778

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 #

IGL01405

Quality Score

Status

Chromosome

Chromosomal Location

127061565-127099217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127081859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 153 (N153S)

Ref Sequence

ENSEMBL: ENSMUSP00000151402 (fasta)

Gene Model

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

AlphaFold

P33175

Predicted Effect

probably damaging
Transcript: ENSMUST00000099172
AA Change: N153S

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

SMART Domains

Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: N153S

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

probably damaging
Transcript: ENSMUST00000217895
AA Change: N153S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218298

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,274,902 (GRCm39)	R82W	probably damaging	Het
Atxn7	T	C	14: 14,100,105 (GRCm38)	V597A	probably benign	Het
Bsg	T	A	10: 79,547,348 (GRCm39)	M205K	probably benign	Het
Ccdc18	T	C	5: 108,350,052 (GRCm39)		probably benign	Het
Cdh1	T	C	8: 107,375,633 (GRCm39)	V57A	probably damaging	Het
Ddost	A	G	4: 138,039,014 (GRCm39)	D378G	probably damaging	Het
Depdc5	A	G	5: 33,095,033 (GRCm39)	E779G	possibly damaging	Het
Elp5	T	C	11: 69,859,962 (GRCm39)	R250G	probably damaging	Het
Gnb1	A	G	4: 155,627,645 (GRCm39)	H142R	probably damaging	Het
Ift172	G	T	5: 31,419,196 (GRCm39)	Y1148*	probably null	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Man2a2	T	A	7: 80,010,682 (GRCm39)	M770L	probably benign	Het
Msh2	T	C	17: 87,985,663 (GRCm39)	L80P	probably damaging	Het
Naip5	A	T	13: 100,358,453 (GRCm39)	S928T	probably benign	Het
Or7g35	T	A	9: 19,496,501 (GRCm39)	S223T	probably benign	Het
Pla2g4d	T	C	2: 120,097,304 (GRCm39)	N765S	probably benign	Het
Plcb4	C	T	2: 135,792,267 (GRCm39)	T330I	probably damaging	Het
Ppp3ca	A	G	3: 136,574,482 (GRCm39)	I127V	probably benign	Het
Rapgef5	C	A	12: 117,685,115 (GRCm39)	T320K	probably benign	Het
Rbfa	A	G	18: 80,236,080 (GRCm39)	V223A	probably benign	Het
Rfx7	A	G	9: 72,517,626 (GRCm39)	M187V	probably benign	Het
Ric1	T	C	19: 29,544,770 (GRCm39)		probably benign	Het
Slc22a16	C	T	10: 40,461,191 (GRCm39)	T331M	probably benign	Het
Slc34a1	T	C	13: 55,559,941 (GRCm39)	S303P	probably damaging	Het
Slfn3	T	C	11: 83,105,542 (GRCm39)	V513A	possibly damaging	Het
Tbce	A	T	13: 14,178,280 (GRCm39)	I370N	probably damaging	Het
Zfp358	G	A	8: 3,545,663 (GRCm39)	D109N	probably benign	Het
Zfp523	T	C	17: 28,423,480 (GRCm39)	S152P	probably damaging	Het
Zfp961	A	G	8: 72,721,778 (GRCm39)	N78S	possibly 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
IGL01637:Kif5a	APN	10	127,081,237 (GRCm39)	missense	possibly damaging	0.94
IGL01894:Kif5a	APN	10	127,098,648 (GRCm39)	missense	probably benign	0.04
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

2013-11-05