Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Kif5a'

169378

Institutional Source

Beutler Lab

Gene Symbol

Kif5a

Ensembl Gene

ENSMUSG00000074657

Gene Name

kinesin family member 5A

Synonyms

Kif5, Kns, Khc, D10Bwg0738e

MMRRC Submission

039552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127061565-127099217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127081310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 208 (I208N)

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: I208N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: I208N

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: I208N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000218298

Meta Mutation Damage Score

0.9743

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGACTCCTTTGCAACTCGCC -3'
(R):5'- AAGTCCAACCGTCACGTAGCTGTC -3'

Sequencing Primer
(F):5'- AGATCCACGAGGTACAGCTT -3'
(R):5'- CGTAGCTGTCACCAGTAAGTG -3'

Posted On

2014-04-13