Incidental Mutation 'IGL00737:Kifap3'
ID 11630
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 # IGL00737
Quality Score
Status
Chromosome 1
Chromosomal Location 163607152-163744678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 163624839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 132 (I132F)
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: I132F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: I132F

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: I132F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: I132F

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,087,823 (GRCm39) probably benign Het
AI597479 T G 1: 43,140,018 (GRCm39) H81Q probably benign Het
Alcam A T 16: 52,073,543 (GRCm39) L561Q unknown Het
Cd8a T C 6: 71,350,691 (GRCm39) V52A probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Cpsf2 T C 12: 101,949,725 (GRCm39) V119A probably damaging Het
Cry1 T C 10: 84,978,904 (GRCm39) N541D probably benign Het
Dock8 A G 19: 25,160,340 (GRCm39) T1748A probably benign Het
Lcor A G 19: 41,541,139 (GRCm39) T68A probably damaging Het
Lpcat2 A G 8: 93,635,834 (GRCm39) D372G probably damaging Het
Mrpl30 G A 1: 37,934,457 (GRCm39) R33H probably benign Het
Ncstn A G 1: 171,901,968 (GRCm39) Y151H probably benign Het
Parp4 A G 14: 56,821,620 (GRCm39) T2A probably damaging Het
Plxna2 G A 1: 194,428,547 (GRCm39) probably benign Het
Pum2 A G 12: 8,783,381 (GRCm39) Y610C probably damaging Het
Rabl6 T C 2: 25,474,132 (GRCm39) probably benign Het
Wdr33 T A 18: 32,011,169 (GRCm39) W273R probably damaging Het
Wdr59 T C 8: 112,185,368 (GRCm39) N855S probably damaging Het
Wipi2 T A 5: 142,652,625 (GRCm39) D412E probably benign Het
Zfp28 T C 7: 6,396,429 (GRCm39) *56Q probably null Het
Zfyve16 T A 13: 92,657,626 (GRCm39) K762* probably null Het
Other mutations in Kifap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06