Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Kifap3'

33366

Institutional Source

Beutler Lab

Gene Symbol

Kifap3

Ensembl Gene

ENSMUSG00000026585

Gene Name

kinesin-associated protein 3

Synonyms

KAP3

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163607152-163744678 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163710955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 663 (Y663H)

Ref Sequence

ENSEMBL: ENSMUSP00000076830 (fasta)

Gene Model

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

AlphaFold

P70188

Predicted Effect

probably benign
Transcript: ENSMUST00000027877
AA Change: Y663H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: Y663H

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: Y663H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: Y663H

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

0.0726

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 63,083,150 (GRCm39)	Y327H	probably benign	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Cfap70	C	A	14: 20,462,415 (GRCm39)	E659D	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Itga9	T	C	9: 118,598,321 (GRCm39)		probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Mthfr	T	G	4: 148,136,681 (GRCm39)	V446G	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Usp43	A	G	11: 67,767,325 (GRCm39)	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	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
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
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'- ATTTAGACTTGTAGCGCCTGTCCG -3'
(R):5'- ACGAAGGAAGCCTGTGTGCTTG -3'

Sequencing Primer
(F):5'- TGACTAGTAAGCTATTCGGCCAC -3'
(R):5'- CTTACCTGAGTTGTAGAAAAGGTC -3'

Posted On

2013-05-09