Mutagenetix > Incidental Mutation

Incidental Mutation 'R7467:Kifap3'

578829

Institutional Source

Beutler Lab

Gene Symbol

Kifap3

Ensembl Gene

ENSMUSG00000026585

Gene Name

kinesin-associated protein 3

Synonyms

KAP3

MMRRC Submission

045541-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163607152-163744678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163643402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 209 (H209L)

Ref Sequence

ENSEMBL: ENSMUSP00000027877 (fasta)

Gene Model

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

AlphaFold

P70188

Predicted Effect

probably benign
Transcript: ENSMUST00000027877
AA Change: H209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: H209L

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 benign
Transcript: ENSMUST00000077642
AA Change: H209L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: H209L

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (103/105)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 56,098,952 (GRCm39)	V153I	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Aldh16a1	A	G	7: 44,795,331 (GRCm39)	Y443H	probably benign	Het
Apbb1	A	G	7: 105,215,339 (GRCm39)	V434A	probably benign	Het
Atrip	A	G	9: 108,898,422 (GRCm39)	M199T	probably damaging	Het
Atxn2	T	C	5: 121,940,330 (GRCm39)		probably null	Het
AU040320	A	G	4: 126,708,103 (GRCm39)	T240A	probably benign	Het
Btf3l4	A	T	4: 108,675,589 (GRCm39)		probably null	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Cdk15	G	T	1: 59,328,938 (GRCm39)	W282L	probably null	Het
Cflar	T	A	1: 58,765,597 (GRCm39)	M1K	probably null	Het
Champ1	C	A	8: 13,928,579 (GRCm39)	P246T	possibly damaging	Het
Crat	A	C	2: 30,299,994 (GRCm39)	F129V	probably damaging	Het
Csmd3	T	C	15: 47,492,640 (GRCm39)	N2256S		Het
Cwh43	C	A	5: 73,569,311 (GRCm39)	Q118K	probably damaging	Het
Daam1	A	T	12: 72,032,580 (GRCm39)	K949*	probably null	Het
Ddn	C	G	15: 98,703,247 (GRCm39)	E682Q	possibly damaging	Het
Des	T	A	1: 75,339,605 (GRCm39)	M321K	possibly damaging	Het
Dnm2	T	C	9: 21,392,672 (GRCm39)	V460A	probably damaging	Het
Dst	G	A	1: 34,230,236 (GRCm39)	E2610K	probably benign	Het
Efr3a	C	T	15: 65,729,360 (GRCm39)	T660I	possibly damaging	Het
Eogt	T	C	6: 97,119,794 (GRCm39)	E138G	probably benign	Het
Epha8	G	A	4: 136,658,399 (GRCm39)	A992V	possibly damaging	Het
Exoc2	A	T	13: 31,109,716 (GRCm39)	D217E	probably damaging	Het
Fam222b	T	C	11: 78,045,173 (GRCm39)	S245P	probably damaging	Het
Fbxo45	T	C	16: 32,057,339 (GRCm39)	Y185C	probably damaging	Het
Fbxo47	T	C	11: 97,755,993 (GRCm39)	T170A	probably benign	Het
Fbxw26	A	T	9: 109,561,765 (GRCm39)	V143E	probably benign	Het
Foxb2	T	C	19: 16,851,004 (GRCm39)	M1V	probably null	Het
Gm11596	C	A	11: 99,683,962 (GRCm39)	V53L	unknown	Het
Gm47791	A	G	1: 82,748,547 (GRCm39)	*140Q	probably null	Het
Gpr179	C	T	11: 97,226,115 (GRCm39)	M2013I	probably benign	Het
Hck	T	A	2: 152,971,850 (GRCm39)	L137*	probably null	Het
Hectd4	T	A	5: 121,462,024 (GRCm39)	C964S	possibly damaging	Het
Hexa	T	C	9: 59,464,683 (GRCm39)		probably null	Het
Ifna12	C	A	4: 88,521,502 (GRCm39)	S15I	possibly damaging	Het
Kif18b	C	A	11: 102,807,234 (GRCm39)	V34L	probably damaging	Het
Kif18b	A	T	11: 102,803,174 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,360,713 (GRCm39)	D712E	probably damaging	Het
Kmt2c	T	C	5: 25,513,530 (GRCm39)	D3088G	probably damaging	Het
Mageb3	A	G	2: 121,784,953 (GRCm39)	Y250H	probably damaging	Het
Manba	G	T	3: 135,250,562 (GRCm39)	E396D	probably damaging	Het
Mapkbp1	T	A	2: 119,852,669 (GRCm39)	V997E	probably damaging	Het
Mdc1	A	G	17: 36,155,448 (GRCm39)	H41R	probably benign	Het
Mis18a	T	G	16: 90,516,866 (GRCm39)	M179L	probably benign	Het
Mmp25	C	G	17: 23,863,756 (GRCm39)	G25R	possibly damaging	Het
Mmp3	A	G	9: 7,447,621 (GRCm39)	D202G	possibly damaging	Het
Mmp3	C	T	9: 7,450,125 (GRCm39)	P286S	probably benign	Het
Mrgpra2b	G	A	7: 47,114,277 (GRCm39)	H152Y	possibly damaging	Het
Mslnl	A	T	17: 25,955,895 (GRCm39)	M1L	probably benign	Het
Myo1d	G	A	11: 80,477,743 (GRCm39)	T880I	probably damaging	Het
Ncaph	T	A	2: 126,975,795 (GRCm39)		probably benign	Het
Nln	T	C	13: 104,161,530 (GRCm39)	D680G	possibly damaging	Het
Noct	C	T	3: 51,132,622 (GRCm39)	A33V	probably benign	Het
Nolc1	A	G	19: 46,070,773 (GRCm39)	T325A	unknown	Het
Nr2e3	A	G	9: 59,856,434 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,155,459 (GRCm39)	H450L	probably benign	Het
Or13a21	T	C	7: 139,999,287 (GRCm39)	N133S	probably benign	Het
Or2t43	A	C	11: 58,457,288 (GRCm39)	N294K	possibly damaging	Het
Or5ak24	T	G	2: 85,261,171 (GRCm39)	M1L	possibly damaging	Het
Or5an1	T	A	19: 12,260,839 (GRCm39)	C142*	probably null	Het
Or6b3	T	A	1: 92,439,570 (GRCm39)	Y60F	possibly damaging	Het
Pank2	T	A	2: 131,115,967 (GRCm39)	N128K	possibly damaging	Het
Pcdha3	T	C	18: 37,080,584 (GRCm39)	V442A	probably damaging	Het
Pds5b	T	A	5: 150,659,792 (GRCm39)	S252T	probably damaging	Het
Pfpl	T	C	19: 12,405,878 (GRCm39)	L43S	probably damaging	Het
Pigu	T	A	2: 155,141,009 (GRCm39)	I295F	probably damaging	Het
Piwil4	T	C	9: 14,616,337 (GRCm39)	Y673C	probably damaging	Het
Pls1	A	G	9: 95,651,166 (GRCm39)	Y414H	possibly damaging	Het
Ppp1r13l	A	T	7: 19,105,305 (GRCm39)	Q359L	probably damaging	Het
Ppp2r5c	A	G	12: 110,519,317 (GRCm39)	Y263C	probably damaging	Het
Prrc2c	A	T	1: 162,504,932 (GRCm39)	S2638R	possibly damaging	Het
Prss39	T	A	1: 34,538,473 (GRCm39)		probably null	Het
Psmd1	G	A	1: 86,044,355 (GRCm39)	V648M	probably damaging	Het
Rad50	T	C	11: 53,545,735 (GRCm39)	D1196G	probably damaging	Het
Rfx1	T	C	8: 84,800,542 (GRCm39)	Y48H	possibly damaging	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rpl9	T	C	5: 65,548,310 (GRCm39)	T9A	probably benign	Het
Samd4	A	G	14: 47,325,313 (GRCm39)	N598D	probably benign	Het
Sema7a	T	C	9: 57,868,705 (GRCm39)	Y606H	probably damaging	Het
Sf3b3	A	G	8: 111,538,088 (GRCm39)	S1150P	possibly damaging	Het
Sirt1	T	C	10: 63,157,929 (GRCm39)	N495S	probably benign	Het
Slc17a3	T	C	13: 24,030,950 (GRCm39)		probably null	Het
Slc25a22	T	C	7: 141,013,889 (GRCm39)	T24A	probably benign	Het
Slc30a9	T	C	5: 67,502,987 (GRCm39)	I363T	probably benign	Het
Srbd1	A	G	17: 86,406,702 (GRCm39)	V561A	probably damaging	Het
Srgap1	C	A	10: 121,691,344 (GRCm39)	E297*	probably null	Het
Srgap2	T	C	1: 131,220,405 (GRCm39)	S896G	probably damaging	Het
Sspo	T	C	6: 48,463,237 (GRCm39)	C3730R	probably damaging	Het
Stat2	T	A	10: 128,113,772 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,977 (GRCm39)	K581E	unknown	Het
Tdpoz6	T	A	3: 93,600,265 (GRCm39)	T35S	probably benign	Het
Thbs1	T	C	2: 117,948,681 (GRCm39)	S446P	probably damaging	Het
Thsd7a	T	C	6: 12,331,584 (GRCm39)	Y1330C		Het
Tmem121	C	A	12: 113,152,690 (GRCm39)	P303T	probably benign	Het
Tmem87b	T	A	2: 128,691,071 (GRCm39)		probably null	Het
Tmem98	A	T	11: 80,711,011 (GRCm39)		probably null	Het
Trpm3	T	A	19: 22,955,698 (GRCm39)	I1091N	possibly damaging	Het
Urb2	A	G	8: 124,755,250 (GRCm39)	E319G	probably benign	Het
Vmn1r170	A	T	7: 23,306,320 (GRCm39)	M241L	not run	Het
Vmn1r238	T	C	18: 3,123,393 (GRCm39)	N7S	probably benign	Het
Wdr6	T	C	9: 108,450,201 (GRCm39)	H1109R	probably benign	Het
Zdhhc13	T	C	7: 48,454,156 (GRCm39)	V193A	probably benign	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp738	T	A	13: 67,821,080 (GRCm39)	E89V	probably benign	Het
Zswim3	T	A	2: 164,661,795 (GRCm39)	F92I	possibly 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
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
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
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'- GTACGGGCAGAATGTTAACAC -3'
(R):5'- GACACATTCTTGCATGGTTTCC -3'

Sequencing Primer
(F):5'- CTGTGGTTATATTCATACACTAGAA -3'
(R):5'- GAGAGAACAAGCCCACCCTAC -3'

Posted On

2019-10-07