Mutagenetix > Incidental Mutation

Incidental Mutation 'R8108:Kifap3'

630706

Institutional Source

Beutler Lab

Gene Symbol

Kifap3

Ensembl Gene

ENSMUSG00000026585

Gene Name

kinesin-associated protein 3

Synonyms

Smg GDS, KAP3

MMRRC Submission

067537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163779583-163917109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163797362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 162 (N162K)

Ref Sequence

ENSEMBL: ENSMUSP00000027877 (fasta)

Gene Model

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

AlphaFold

P70188

Predicted Effect

probably damaging
Transcript: ENSMUST00000027877
AA Change: N162K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: N162K

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 damaging
Transcript: ENSMUST00000077642
AA Change: N162K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: N162K

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: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

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
Acot1	T	A	12: 84,017,361 (GRCm38)	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036 (GRCm38)	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153 (GRCm38)	T332A	unknown	Het
Chd9	C	T	8: 90,933,224 (GRCm38)	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049 (GRCm38)	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246 (GRCm38)	Y119C	probably benign	Het
Dscam	G	C	16: 96,643,879 (GRCm38)	D1537E	probably benign	Het
Dusp16	A	G	6: 134,739,873 (GRCm38)	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829 (GRCm38)	D508G	probably benign	Het
Endov	T	C	11: 119,507,411 (GRCm38)	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883 (GRCm38)	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115 (GRCm38)	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379 (GRCm38)		probably null	Het
Gm1110	T	C	9: 26,920,661 (GRCm38)	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200 (GRCm38)	V19A		Het
Gm436	A	T	4: 144,670,669 (GRCm38)	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869 (GRCm38)	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406 (GRCm38)	Y355C		Het
Grm1	C	A	10: 10,720,132 (GRCm38)	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810 (GRCm38)	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525 (GRCm38)	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331 (GRCm38)	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945 (GRCm38)	F141S	possibly damaging	Het
Klhl5	A	G	5: 65,148,587 (GRCm38)		probably null	Het
Klre1	A	G	6: 129,584,222 (GRCm38)	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957 (GRCm38)	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050 (GRCm38)	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057 (GRCm38)	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059 (GRCm38)	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030 (GRCm38)	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179 (GRCm38)	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702 (GRCm38)	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342 (GRCm38)	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315 (GRCm38)	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012 (GRCm38)	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121 (GRCm38)	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960 (GRCm38)	V519I	probably benign	Het
Npat	G	T	9: 53,571,129 (GRCm38)	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634 (GRCm38)	T3870S	probably benign	Het
Olfr1000	T	C	2: 85,608,749 (GRCm38)	R54G	possibly damaging	Het
Olfr1288	T	C	2: 111,479,234 (GRCm38)	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236 (GRCm38)	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854 (GRCm38)	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451 (GRCm38)	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410 (GRCm38)	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073 (GRCm38)	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506 (GRCm38)	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161 (GRCm38)	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326 (GRCm38)	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225 (GRCm38)		probably null	Het
Proser1	T	A	3: 53,472,088 (GRCm38)		probably null	Het
Reg3d	T	A	6: 78,376,079 (GRCm38)	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950 (GRCm38)	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198 (GRCm38)	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102 (GRCm38)	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154 (GRCm38)	I338V	possibly damaging	Het
Slc35g1	T	A	19: 38,402,831 (GRCm38)	L187H	probably damaging	Het
Slc35g1	C	G	19: 38,402,829 (GRCm38)	S186R	probably damaging	Het
Spata5	T	C	3: 37,431,782 (GRCm38)	S218P	probably benign	Het
Tbc1d5	T	C	17: 50,742,086 (GRCm38)	I659V	probably benign	Het
Tbl3	G	T	17: 24,700,916 (GRCm38)	D751E	probably benign	Het
Tdrd3	T	A	14: 87,486,266 (GRCm38)	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728 (GRCm38)	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023 (GRCm38)	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373 (GRCm38)	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790 (GRCm38)	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673 (GRCm38)	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050 (GRCm38)	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787 (GRCm38)	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003 (GRCm38)	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234 (GRCm38)	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305 (GRCm38)	N178K	probably benign	Het

Other mutations in Kifap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Kifap3	APN	1	163,797,270 (GRCm38)	missense	probably damaging	1.00
IGL01655:Kifap3	APN	1	163,796,049 (GRCm38)	splice site	probably benign
IGL02385:Kifap3	APN	1	163,865,444 (GRCm38)	nonsense	probably null
IGL02517:Kifap3	APN	1	163,825,871 (GRCm38)	splice site	probably benign
IGL02756:Kifap3	APN	1	163,862,028 (GRCm38)	missense	probably damaging	0.98
IGL03034:Kifap3	APN	1	163,888,277 (GRCm38)	missense	probably benign	0.05
IGL03230:Kifap3	APN	1	163,825,724 (GRCm38)	missense	probably benign	0.02
IGL03270:Kifap3	APN	1	163,848,733 (GRCm38)	missense	probably benign	0.18
IGL03340:Kifap3	APN	1	163,829,149 (GRCm38)	missense	possibly damaging	0.94
R0207:Kifap3	UTSW	1	163,883,386 (GRCm38)	missense	probably benign	0.00
R0333:Kifap3	UTSW	1	163,797,264 (GRCm38)	missense	probably damaging	1.00
R0426:Kifap3	UTSW	1	163,865,552 (GRCm38)	splice site	probably benign
R1467:Kifap3	UTSW	1	163,829,120 (GRCm38)	splice site	probably benign
R1482:Kifap3	UTSW	1	163,825,859 (GRCm38)	missense	possibly damaging	0.91
R1547:Kifap3	UTSW	1	163,794,086 (GRCm38)	missense	probably benign	0.01
R1704:Kifap3	UTSW	1	163,829,196 (GRCm38)	missense	possibly damaging	0.50
R1724:Kifap3	UTSW	1	163,783,097 (GRCm38)	nonsense	probably null
R1982:Kifap3	UTSW	1	163,862,022 (GRCm38)	nonsense	probably null
R2233:Kifap3	UTSW	1	163,856,065 (GRCm38)	missense	probably benign
R2273:Kifap3	UTSW	1	163,868,758 (GRCm38)	missense	possibly damaging	0.94
R2274:Kifap3	UTSW	1	163,868,758 (GRCm38)	missense	possibly damaging	0.94
R2275:Kifap3	UTSW	1	163,868,758 (GRCm38)	missense	possibly damaging	0.94
R3420:Kifap3	UTSW	1	163,794,026 (GRCm38)	missense	probably damaging	1.00
R3421:Kifap3	UTSW	1	163,794,026 (GRCm38)	missense	probably damaging	1.00
R3422:Kifap3	UTSW	1	163,794,026 (GRCm38)	missense	probably damaging	1.00
R4194:Kifap3	UTSW	1	163,915,825 (GRCm38)	missense	probably benign	0.10
R4260:Kifap3	UTSW	1	163,862,028 (GRCm38)	missense	probably damaging	0.98
R4464:Kifap3	UTSW	1	163,817,895 (GRCm38)	missense	probably benign	0.00
R4635:Kifap3	UTSW	1	163,814,435 (GRCm38)	missense	probably damaging	1.00
R5090:Kifap3	UTSW	1	163,856,076 (GRCm38)	missense	possibly damaging	0.89
R5426:Kifap3	UTSW	1	163,779,871 (GRCm38)	start codon destroyed	probably null	0.30
R5868:Kifap3	UTSW	1	163,865,472 (GRCm38)	missense	probably damaging	1.00
R6107:Kifap3	UTSW	1	163,868,769 (GRCm38)	missense	possibly damaging	0.50
R6437:Kifap3	UTSW	1	163,857,526 (GRCm38)	missense	probably damaging	0.99
R6744:Kifap3	UTSW	1	163,848,670 (GRCm38)	missense	probably benign	0.00
R7051:Kifap3	UTSW	1	163,794,080 (GRCm38)	missense	probably damaging	1.00
R7143:Kifap3	UTSW	1	163,856,040 (GRCm38)	missense	possibly damaging	0.66
R7143:Kifap3	UTSW	1	163,825,859 (GRCm38)	missense	possibly damaging	0.91
R7216:Kifap3	UTSW	1	163,795,989 (GRCm38)	missense	probably damaging	0.98
R7467:Kifap3	UTSW	1	163,815,833 (GRCm38)	missense	probably benign
R7564:Kifap3	UTSW	1	163,915,768 (GRCm38)	missense	probably damaging	1.00
R7939:Kifap3	UTSW	1	163,815,858 (GRCm38)	nonsense	probably null
R8496:Kifap3	UTSW	1	163,829,297 (GRCm38)	critical splice donor site	probably null
R9009:Kifap3	UTSW	1	163,868,722 (GRCm38)	missense	probably damaging	0.97
R9212:Kifap3	UTSW	1	163,783,031 (GRCm38)	missense	probably damaging	1.00
R9228:Kifap3	UTSW	1	163,862,097 (GRCm38)	missense	probably benign	0.11
R9350:Kifap3	UTSW	1	163,783,061 (GRCm38)	missense	probably benign	0.02
R9652:Kifap3	UTSW	1	163,862,088 (GRCm38)	missense	probably damaging	1.00
U24488:Kifap3	UTSW	1	163,783,035 (GRCm38)	missense	possibly damaging	0.64
Z1177:Kifap3	UTSW	1	163,862,062 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCATCCATCTGATAGCAATTCT -3'
(R):5'- TGCATACATCTATGAACATGCATATAG -3'

Sequencing Primer
(F):5'- AGCAATTCTGTCCATGAGAGCTG -3'
(R):5'- TGGATTAAGGAACCTACAGTAATCC -3'

Posted On

2020-06-30