Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Kifap3'

426854

Institutional Source

Beutler Lab

Gene Symbol

Kifap3

Ensembl Gene

ENSMUSG00000026585

Gene Name

kinesin-associated protein 3

Synonyms

KAP3

MMRRC Submission

042992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5426 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

163607152-163744678 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 163607440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000076830 (fasta)

Gene Model

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

AlphaFold

P70188

Predicted Effect

probably null
Transcript: ENSMUST00000027877
AA Change: M1V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: M1V

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

probably null
Transcript: ENSMUST00000077642
AA Change: M1V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: M1V

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

Meta Mutation Damage Score

0.9385

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,633 (GRCm39)	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,011,932 (GRCm39)	M90I	unknown	Het
9330182O14Rik	G	A	15: 40,011,933 (GRCm39)	D91N	unknown	Het
Abca13	T	A	11: 9,240,722 (GRCm39)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,226,004 (GRCm39)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,204,832 (GRCm39)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,666,020 (GRCm39)	P80A	probably damaging	Het
Akap11	G	A	14: 78,736,304 (GRCm39)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,536,281 (GRCm39)	R62Q	probably benign	Het
Amd1	G	T	10: 40,166,183 (GRCm39)	D265E	probably damaging	Het
Aox4	A	T	1: 58,259,253 (GRCm39)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,800,159 (GRCm39)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,897,880 (GRCm39)	S874G	probably damaging	Het
Ccdc166	T	C	15: 75,853,945 (GRCm39)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,938,975 (GRCm39)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,635,453 (GRCm39)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,729,220 (GRCm39)	W109R	probably damaging	Het
Cspg4b	G	A	13: 113,505,587 (GRCm39)	V2239I	probably benign	Het
Cyp2b9	T	C	7: 25,887,080 (GRCm39)	V163A	probably benign	Het
Dcpp2	T	A	17: 24,118,287 (GRCm39)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,704,347 (GRCm39)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,380,868 (GRCm39)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,281,366 (GRCm39)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,795,744 (GRCm39)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,591,541 (GRCm39)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,578,907 (GRCm39)	A23T	unknown	Het
Flacc1	T	A	1: 58,706,045 (GRCm39)	K275*	probably null	Het
Gemin5	A	G	11: 58,016,113 (GRCm39)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,806,161 (GRCm39)		probably benign	Het
Gpatch11	T	A	17: 79,148,663 (GRCm39)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,709,366 (GRCm39)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 79,081,142 (GRCm39)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,226,556 (GRCm39)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,529,981 (GRCm39)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,083,023 (GRCm39)	V644D	probably damaging	Het
Klhl11	A	G	11: 100,354,942 (GRCm39)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,618,513 (GRCm39)	S98L	probably benign	Het
Lrrc37	A	T	11: 103,511,586 (GRCm39)	H127Q	unknown	Het
Med12l	G	A	3: 59,156,143 (GRCm39)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,303,166 (GRCm39)		probably null	Het
Mybpc2	A	G	7: 44,159,253 (GRCm39)	V599A	probably benign	Het
Naalad2	T	C	9: 18,258,815 (GRCm39)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,684,805 (GRCm39)	S12R	probably benign	Het
Nefm	T	A	14: 68,357,515 (GRCm39)		probably benign	Het
Nlrp5	T	C	7: 23,117,626 (GRCm39)	V450A	probably damaging	Het
Nps	G	A	7: 134,870,376 (GRCm39)		probably null	Het
Or13c7d	A	G	4: 43,770,168 (GRCm39)	I281T	probably benign	Het
Or2ag16	C	A	7: 106,351,773 (GRCm39)	S274I	probably benign	Het
Or4a74	T	C	2: 89,440,083 (GRCm39)	Y121C	probably damaging	Het
Or4b13	T	A	2: 90,082,955 (GRCm39)	K126*	probably null	Het
Or5e1	T	C	7: 108,354,924 (GRCm39)	L287P	possibly damaging	Het
Or5h24	G	T	16: 58,918,665 (GRCm39)	P230Q	possibly damaging	Het
Or5p67	T	C	7: 107,922,017 (GRCm39)	N289D	probably damaging	Het
Oxct2a	C	A	4: 123,216,506 (GRCm39)	G292W	possibly damaging	Het
Pramel32	T	A	4: 88,547,647 (GRCm39)		probably benign	Het
Prr27	T	C	5: 87,998,744 (GRCm39)		probably benign	Het
Ptx3	T	C	3: 66,128,143 (GRCm39)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,312,561 (GRCm39)	L131S	probably damaging	Het
Septin7	T	A	9: 25,197,986 (GRCm39)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,135,446 (GRCm39)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,350,877 (GRCm39)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,710,968 (GRCm39)	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,136,308 (GRCm39)		probably null	Het
Slco4a1	C	A	2: 180,113,028 (GRCm39)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,888,471 (GRCm39)	T180A	probably benign	Het
Specc1l	T	C	10: 75,103,384 (GRCm39)	S920P	probably benign	Het
Tgtp2	A	G	11: 48,950,083 (GRCm39)	M163T	probably benign	Het
Tiam1	G	T	16: 89,662,280 (GRCm39)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,114,247 (GRCm39)	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wdfy3	T	A	5: 102,067,312 (GRCm39)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,951,586 (GRCm39)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,341,722 (GRCm39)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,405,256 (GRCm39)	C391*	probably null	Het
Zfp638	A	G	6: 83,953,396 (GRCm39)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,238,569 (GRCm39)	D192V	probably benign	Het
Zfp853	T	G	5: 143,274,624 (GRCm39)	Q332P	unknown	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
R2275: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
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'- CGTCAGATTTGTCGCAGGAG -3'
(R):5'- GCAGGGCCCATCCTTTATTC -3'

Sequencing Primer
(F):5'- AGATTTGTCGCAGGAGCCTCAC -3'
(R):5'- GGCCCATCCTTTATTCCACCC -3'

Posted On

2016-09-01