Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Kif5a'

227250

Institutional Source

Beutler Lab

Gene Symbol

Kif5a

Ensembl Gene

ENSMUSG00000074657

Gene Name

kinesin family member 5A

Synonyms

Kif5, Kns, Khc, D10Bwg0738e

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2072 (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: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	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
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'- AAATATTTGCTTATTACTGGGGAGGGC -3'
(R):5'- AACCGTCACGTAGCTGTCAC -3'

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

Posted On

2014-09-17