Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Kifap3'

242693

Institutional Source

Beutler Lab

Gene Symbol

Kifap3

Ensembl Gene

ENSMUSG00000026585

Gene Name

kinesin-associated protein 3

Synonyms

KAP3

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163607152-163744678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163696327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 652 (V652D)

Ref Sequence

ENSEMBL: ENSMUSP00000076830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027877] [ENSMUST00000077642]

AlphaFold

P70188

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027877
AA Change: V652D

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: V652D

Domain	Start	End	E-Value	Type
KAP	13	720	N/A	SMART
ARM	333	373	1.21e-3	SMART
ARM	374	412	9.68e0	SMART
ARM	578	620	1.28e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077642
AA Change: V652D

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: V652D

Domain	Start	End	E-Value	Type
KAP	13	720	N/A	SMART
ARM	333	373	1.21e-3	SMART
ARM	374	412	9.68e0	SMART
ARM	578	620	1.28e-2	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is the non-motor subunit of kinesin-2 complex, and forms a heterotrimer with two members of the kinesin superfamily of proteins that together form a microtubule plus-end directed translocator that plays an important role in intracellular transport, mitosis, and cell-cell adhesion. This protein contains multiple armadillo repeats involved in protein binding, and may serve as an adaptor to regulate binding of cargo with the motor proteins. Conditional disruption of this gene in mouse neural precursor cells caused a tumor-like phenotype and defective organization of the neuroepithelium thought to be the result of altered N-cadherin subcellular localization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: About 70% of homozygotes for a knock-out mutation die of heart failure shortly after birth due to massive cardiomyocyte apoptosis triggered by cardiovascular overload. Neonatal thymocytes and developing neuronal cells undergo apoptosis while cultured thymocytes are susceptible to apoptotic inducers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Aco2	C	T	15: 81,779,465 (GRCm39)	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Adgrb2	G	A	4: 129,900,647 (GRCm39)	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atxn7	T	A	14: 14,013,268 (GRCm38)	M62K	possibly damaging	Het
C87436	G	A	6: 86,422,582 (GRCm39)	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,532,640 (GRCm39)	S701P	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfap276	A	G	3: 108,449,819 (GRCm39)	N33D	possibly damaging	Het
Col12a1	A	T	9: 79,542,709 (GRCm39)	V2352E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csad	G	T	15: 102,095,557 (GRCm39)	R167S	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Ehmt2	T	A	17: 35,129,691 (GRCm39)	N951K	possibly damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,761,190 (GRCm39)	Y221D	probably damaging	Het
Exoc3l	A	T	8: 106,017,079 (GRCm39)		probably null	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Faiml	T	C	9: 99,111,612 (GRCm39)	Y149C	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Glg1	A	T	8: 111,895,353 (GRCm39)	Y819*	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gm28042	A	C	2: 119,867,310 (GRCm39)	Q465P	probably damaging	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Knl1	C	A	2: 118,902,762 (GRCm39)	Q1488K	probably damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mypn	A	G	10: 62,966,848 (GRCm39)	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Ntrk2	T	A	13: 59,009,165 (GRCm39)	Y319N	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Parg	A	G	14: 32,017,195 (GRCm39)	D384G	probably damaging	Het
Pde7b	T	A	10: 20,276,165 (GRCm39)	*460L	probably null	Het
Pigr	G	T	1: 130,774,207 (GRCm39)	V396L	probably benign	Het
Pkhd1	A	G	1: 20,271,073 (GRCm39)	I3160T	possibly damaging	Het
Ppl	T	C	16: 4,912,416 (GRCm39)	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,342,713 (GRCm39)	E781G	possibly damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260 (GRCm39)	R522H	probably damaging	Het
Senp7	T	C	16: 56,005,146 (GRCm39)	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,855,411 (GRCm39)	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Slco4a1	T	C	2: 180,106,529 (GRCm39)	L237P	possibly damaging	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Tia1	A	G	6: 86,404,659 (GRCm39)	N298S	probably benign	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Ttc6	G	A	12: 57,749,084 (GRCm39)	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,996,807 (GRCm39)	L237P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,023,930 (GRCm39)	R884G	probably benign	Het
Vmn2r60	T	A	7: 41,786,251 (GRCm39)	Y351*	probably null	Het
Zbtb7a	G	A	10: 80,980,831 (GRCm39)	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 74,121,871 (GRCm39)	N127K	probably damaging	Het

Other mutations in Kifap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Kifap3	APN	1	163,624,839 (GRCm39)	missense	probably damaging	1.00
IGL01655:Kifap3	APN	1	163,623,618 (GRCm39)	splice site	probably benign
IGL02385:Kifap3	APN	1	163,693,013 (GRCm39)	nonsense	probably null
IGL02517:Kifap3	APN	1	163,653,440 (GRCm39)	splice site	probably benign
IGL02756:Kifap3	APN	1	163,689,597 (GRCm39)	missense	probably damaging	0.98
IGL03034:Kifap3	APN	1	163,715,846 (GRCm39)	missense	probably benign	0.05
IGL03230:Kifap3	APN	1	163,653,293 (GRCm39)	missense	probably benign	0.02
IGL03270:Kifap3	APN	1	163,676,302 (GRCm39)	missense	probably benign	0.18
IGL03340:Kifap3	APN	1	163,656,718 (GRCm39)	missense	possibly damaging	0.94
R0207:Kifap3	UTSW	1	163,710,955 (GRCm39)	missense	probably benign	0.00
R0333:Kifap3	UTSW	1	163,624,833 (GRCm39)	missense	probably damaging	1.00
R0426:Kifap3	UTSW	1	163,693,121 (GRCm39)	splice site	probably benign
R1467:Kifap3	UTSW	1	163,656,689 (GRCm39)	splice site	probably benign
R1482:Kifap3	UTSW	1	163,653,428 (GRCm39)	missense	possibly damaging	0.91
R1547:Kifap3	UTSW	1	163,621,655 (GRCm39)	missense	probably benign	0.01
R1704:Kifap3	UTSW	1	163,656,765 (GRCm39)	missense	possibly damaging	0.50
R1724:Kifap3	UTSW	1	163,610,666 (GRCm39)	nonsense	probably null
R1982:Kifap3	UTSW	1	163,689,591 (GRCm39)	nonsense	probably null
R2233:Kifap3	UTSW	1	163,683,634 (GRCm39)	missense	probably benign
R2273:Kifap3	UTSW	1	163,696,327 (GRCm39)	missense	possibly damaging	0.94
R2274:Kifap3	UTSW	1	163,696,327 (GRCm39)	missense	possibly damaging	0.94
R3420:Kifap3	UTSW	1	163,621,595 (GRCm39)	missense	probably damaging	1.00
R3421:Kifap3	UTSW	1	163,621,595 (GRCm39)	missense	probably damaging	1.00
R3422:Kifap3	UTSW	1	163,621,595 (GRCm39)	missense	probably damaging	1.00
R4194:Kifap3	UTSW	1	163,743,394 (GRCm39)	missense	probably benign	0.10
R4260:Kifap3	UTSW	1	163,689,597 (GRCm39)	missense	probably damaging	0.98
R4464:Kifap3	UTSW	1	163,645,464 (GRCm39)	missense	probably benign	0.00
R4635:Kifap3	UTSW	1	163,642,004 (GRCm39)	missense	probably damaging	1.00
R5090:Kifap3	UTSW	1	163,683,645 (GRCm39)	missense	possibly damaging	0.89
R5426:Kifap3	UTSW	1	163,607,440 (GRCm39)	start codon destroyed	probably null	0.30
R5868:Kifap3	UTSW	1	163,693,041 (GRCm39)	missense	probably damaging	1.00
R6107:Kifap3	UTSW	1	163,696,338 (GRCm39)	missense	possibly damaging	0.50
R6437:Kifap3	UTSW	1	163,685,095 (GRCm39)	missense	probably damaging	0.99
R6744:Kifap3	UTSW	1	163,676,239 (GRCm39)	missense	probably benign	0.00
R7051:Kifap3	UTSW	1	163,621,649 (GRCm39)	missense	probably damaging	1.00
R7143:Kifap3	UTSW	1	163,683,609 (GRCm39)	missense	possibly damaging	0.66
R7143:Kifap3	UTSW	1	163,653,428 (GRCm39)	missense	possibly damaging	0.91
R7216:Kifap3	UTSW	1	163,623,558 (GRCm39)	missense	probably damaging	0.98
R7467:Kifap3	UTSW	1	163,643,402 (GRCm39)	missense	probably benign
R7564:Kifap3	UTSW	1	163,743,337 (GRCm39)	missense	probably damaging	1.00
R7939:Kifap3	UTSW	1	163,643,427 (GRCm39)	nonsense	probably null
R8108:Kifap3	UTSW	1	163,624,931 (GRCm39)	missense	probably damaging	0.99
R8496:Kifap3	UTSW	1	163,656,866 (GRCm39)	critical splice donor site	probably null
R9009:Kifap3	UTSW	1	163,696,291 (GRCm39)	missense	probably damaging	0.97
R9212:Kifap3	UTSW	1	163,610,600 (GRCm39)	missense	probably damaging	1.00
R9228:Kifap3	UTSW	1	163,689,666 (GRCm39)	missense	probably benign	0.11
R9350:Kifap3	UTSW	1	163,610,630 (GRCm39)	missense	probably benign	0.02
R9652:Kifap3	UTSW	1	163,689,657 (GRCm39)	missense	probably damaging	1.00
U24488:Kifap3	UTSW	1	163,610,604 (GRCm39)	missense	possibly damaging	0.64
Z1177:Kifap3	UTSW	1	163,689,631 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCCTCCCATGTATGTGTG -3'
(R):5'- GCCCTCTAAAGAGCCTATGG -3'

Sequencing Primer
(F):5'- CCTCCCATGTATGTGTGTGTGTG -3'
(R):5'- CCTATGGTTAAAAGCTGAAAGCC -3'

Posted On

2014-10-16