Incidental Mutation 'IGL03270:Kifap3'
ID 415218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kifap3
Ensembl Gene ENSMUSG00000026585
Gene Name kinesin-associated protein 3
Synonyms KAP3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03270
Quality Score
Status
Chromosome 1
Chromosomal Location 163607152-163744678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 163676302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 419 (M419K)
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: M419K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: M419K

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 benign
Transcript: ENSMUST00000077642
AA Change: M419K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: M419K

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
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Gfra2 A G 14: 71,163,344 (GRCm39) D209G possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Ppp4r2 T G 6: 100,840,086 (GRCm39) N72K probably damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rad51d A G 11: 82,772,420 (GRCm39) probably benign Het
Rel T C 11: 23,692,584 (GRCm39) N483S probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Zbtb1 T C 12: 76,432,289 (GRCm39) S92P possibly 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
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
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
Posted On 2016-08-02