Mutagenetix > Incidental Mutation

Incidental Mutation 'R2075:Kif5a'

227545

Institutional Source

Beutler Lab

Gene Symbol

Kif5a

Ensembl Gene

ENSMUSG00000074657

Gene Name

kinesin family member 5A

Synonyms

Kif5, Kns, Khc, D10Bwg0738e

MMRRC Submission

040080-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127061565-127099217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127081238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 232 (D232G)

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: D232G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: D232G

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: D232G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000218298

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,472,382 (GRCm39)	F4263L	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Bahcc1	G	A	11: 120,162,515 (GRCm39)	C271Y	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,596,510 (GRCm39)	L34P	probably damaging	Het
Cd22	C	G	7: 30,569,123 (GRCm39)	C637S	probably damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Clec16a	G	A	16: 10,559,480 (GRCm39)	A918T	probably benign	Het
Clec2m	C	T	6: 129,303,666 (GRCm39)	E100K	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dna2	A	G	10: 62,805,601 (GRCm39)	Q946R	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Esr2	A	G	12: 76,212,221 (GRCm39)		probably null	Het
Fbxo9	G	T	9: 77,991,798 (GRCm39)	H397N	possibly damaging	Het
Fsip2	T	A	2: 82,818,923 (GRCm39)	N4885K	possibly damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Hivep1	A	G	13: 42,309,794 (GRCm39)	D678G	probably damaging	Het
Hmcn1	T	A	1: 150,453,074 (GRCm39)	I5414F	possibly damaging	Het
Hspb2	T	C	9: 50,662,646 (GRCm39)	Y67C	probably benign	Het
Kbtbd8	T	A	6: 95,103,664 (GRCm39)	C438S	possibly damaging	Het
Ky	A	G	9: 102,419,945 (GRCm39)	S651G	probably damaging	Het
Lgals12	T	C	19: 7,576,210 (GRCm39)	D238G	possibly damaging	Het
Lpcat3	T	A	6: 124,680,066 (GRCm39)	Y380N	probably damaging	Het
Mdn1	A	G	4: 32,716,058 (GRCm39)	H2080R	probably benign	Het
Mex3c	C	T	18: 73,722,840 (GRCm39)	S311L	probably benign	Het
Mlh3	A	T	12: 85,315,915 (GRCm39)	Y90*	probably null	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Myo5a	A	T	9: 75,097,200 (GRCm39)	T49S	probably benign	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or51b17	T	A	7: 103,542,127 (GRCm39)	I272F	probably damaging	Het
Or51i2	T	A	7: 103,689,180 (GRCm39)	M59K	probably damaging	Het
Or5ac19	T	C	16: 59,089,274 (GRCm39)	Y252C	possibly damaging	Het
Pdgfra	T	C	5: 75,348,609 (GRCm39)	I883T	probably damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf24	A	G	4: 42,939,507 (GRCm39)	Y333C	possibly damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Piezo2	C	T	18: 63,214,805 (GRCm39)	E1263K	probably damaging	Het
Pitrm1	A	G	13: 6,605,419 (GRCm39)	T149A	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Polr2c	A	G	8: 95,590,195 (GRCm39)	I267V	probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Ptpn2	T	A	18: 67,814,545 (GRCm39)	T155S	probably damaging	Het
Ptprn2	G	A	12: 117,211,337 (GRCm39)	V839I	probably benign	Het
Sbp	A	G	17: 24,164,132 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Slc6a20b	T	A	9: 123,424,099 (GRCm39)	T623S	probably benign	Het
Sqle	T	A	15: 59,195,750 (GRCm39)	V342E	probably damaging	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnc	G	A	4: 63,913,903 (GRCm39)	T1303M	possibly damaging	Het
Traf6	A	C	2: 101,527,398 (GRCm39)	I383L	probably benign	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Vmn1r199	A	T	13: 22,567,435 (GRCm39)	Y243F	probably damaging	Het
Vmn2r111	A	C	17: 22,778,043 (GRCm39)	N545K	probably damaging	Het
Vmn2r27	T	A	6: 124,177,510 (GRCm39)	Q498L	possibly damaging	Het
Vstm4	A	T	14: 32,639,811 (GRCm39)	S229C	probably damaging	Het
Wdr12	C	T	1: 60,130,222 (GRCm39)	R63Q	possibly damaging	Het
Wrn	T	A	8: 33,812,357 (GRCm39)	I187L	probably benign	Het
Xirp2	A	T	2: 67,340,545 (GRCm39)	I929L	probably benign	Het
Ywhae	T	A	11: 75,655,486 (GRCm39)	D252E	probably benign	Het
Zfp944	A	T	17: 22,558,178 (GRCm39)	C356*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAATATTTGCTTATTACTGGGGAGGGC -3'
(R):5'- AACCGTCACGTAGCTGTCAC -3'

Sequencing Primer
(F):5'- ACTGGGGAGGGCTTGTAATATTATC -3'
(R):5'- TCACGTAGCTGTCACCAGTAAGTG -3'

Posted On

2014-09-17