Incidental Mutation 'R8108:Kifap3'
ID 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 1
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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