Incidental Mutation 'R3421:Kifap3'
ID 267028
Institutional Source Beutler Lab
Gene Symbol Kifap3
Ensembl Gene ENSMUSG00000026585
Gene Name kinesin-associated protein 3
Synonyms KAP3
MMRRC Submission 040639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3421 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 163607152-163744678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 163621595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 81 (I81N)
Ref Sequence ENSEMBL: ENSMUSP00000076830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027877] [ENSMUST00000077642]
AlphaFold P70188
Predicted Effect probably damaging
Transcript: ENSMUST00000027877
AA Change: I81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: I81N

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: I81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: I81N

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
Meta Mutation Damage Score 0.9199 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,350,697 (GRCm39) probably null Het
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brip1 A T 11: 86,043,495 (GRCm39) Y356* probably null Het
Ccdc40 C T 11: 119,125,605 (GRCm39) P348L probably benign Het
Chrdl2 G A 7: 99,673,075 (GRCm39) C9Y probably damaging Het
Chst4 T C 8: 110,757,038 (GRCm39) D192G probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Dmgdh T C 13: 93,847,869 (GRCm39) V522A probably benign Het
Dtx2 T A 5: 136,041,332 (GRCm39) Y246N probably damaging Het
Gtf2ird1 T A 5: 134,417,354 (GRCm39) M518L probably benign Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Igfn1 C T 1: 135,904,655 (GRCm39) probably null Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kif4-ps A T 12: 101,113,230 (GRCm39) E453V probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mr1 T C 1: 155,013,337 (GRCm39) Y80C probably damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4c123 C G 2: 89,126,897 (GRCm39) S239T probably benign Het
Or4g7 A G 2: 111,309,297 (GRCm39) H56R probably benign Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Prex1 A G 2: 166,459,774 (GRCm39) V124A probably damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slc7a3 T A X: 100,124,481 (GRCm39) probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Telo2 C T 17: 25,329,726 (GRCm39) R262Q probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp712 C T 13: 67,200,456 (GRCm39) V10M probably damaging Het
Other mutations in Kifap3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTCTTCTTTGGCCAGAAGGTATAG -3'
(R):5'- CTGACACTGGTAAGAACTCATCACC -3'

Sequencing Primer
(F):5'- CAATTCGCATGTGCTTGC -3'
(R):5'- TGGTAAGAACTCATCACCAAAATG -3'
Posted On 2015-02-18