Incidental Mutation 'P0016:Kif27'
ID7591
Institutional Source Beutler Lab
Gene Symbol Kif27
Ensembl Gene ENSMUSG00000060176
Gene Namekinesin family member 27
Synonyms4930517I18Rik
MMRRC Submission 038269-MU
Accession Numbers

NCBI RefSeq: NM_175214.3; MGI:1922300

Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #P0016 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location58287502-58359122 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 58303452 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 1021 (Q1021*)
Ref Sequence ENSEMBL: ENSMUSP00000153598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043605] [ENSMUST00000224694] [ENSMUST00000225388]
Predicted Effect probably null
Transcript: ENSMUST00000043605
AA Change: Q1021*
SMART Domains Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: Q1021*

DomainStartEndE-ValueType
KISc 3 349 9.18e-160 SMART
low complexity region 369 385 N/A INTRINSIC
coiled coil region 386 418 N/A INTRINSIC
Blast:KISc 486 566 5e-29 BLAST
coiled coil region 710 790 N/A INTRINSIC
coiled coil region 835 891 N/A INTRINSIC
coiled coil region 916 972 N/A INTRINSIC
low complexity region 993 1008 N/A INTRINSIC
coiled coil region 1010 1078 N/A INTRINSIC
coiled coil region 1186 1226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190479
Predicted Effect probably benign
Transcript: ENSMUST00000224694
Predicted Effect probably null
Transcript: ENSMUST00000225388
AA Change: Q1021*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225680
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 81.0%
  • 10x: 66.8%
  • 20x: 50.1%
Validation Efficiency 96% (97/101)
MGI Phenotype Strain: 4318693
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted(2) Gene trapped(7)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,938 L154* probably null Het
4930432E11Rik T C 7: 29,563,112 noncoding transcript Het
Arap3 T A 18: 37,984,348 T892S probably benign Het
Ctnnd2 G A 15: 30,966,938 V987I probably benign Het
Dennd6b T C 15: 89,186,977 I351V probably benign Het
Klb G A 5: 65,379,923 W865* probably null Het
Mbd1 C T 18: 74,274,538 R130* probably null Het
Mroh7 T A 4: 106,707,857 probably null Het
Myo16 C T 8: 10,400,596 probably benign Het
Rbm22 T A 18: 60,570,770 probably benign Het
Rnaseh2a C G 8: 84,959,800 D206H probably damaging Het
Slain1 A G 14: 103,685,674 T187A probably benign Het
Slamf6 A G 1: 171,936,501 T154A probably damaging Het
Traip A G 9: 107,968,656 D316G possibly damaging Het
Ttn T C 2: 76,811,183 D5196G probably damaging Het
Ubr5 C T 15: 38,000,578 V1569M probably damaging Het
Zfp750 T A 11: 121,513,978 K24* probably null Het
Zfp799 T C 17: 32,819,357 E645G possibly damaging Het
Other mutations in Kif27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Kif27 APN 13 58337604 missense probably benign
IGL00421:Kif27 APN 13 58343889 missense probably damaging 1.00
IGL00903:Kif27 APN 13 58344672 missense possibly damaging 0.69
IGL01024:Kif27 APN 13 58288201 missense possibly damaging 0.71
IGL01070:Kif27 APN 13 58344093 missense probably damaging 1.00
IGL01761:Kif27 APN 13 58337645 missense probably benign
IGL02160:Kif27 APN 13 58325998 missense probably damaging 1.00
IGL03162:Kif27 APN 13 58311207 missense probably benign 0.03
R0016:Kif27 UTSW 13 58354714 missense probably damaging 1.00
R0016:Kif27 UTSW 13 58354714 missense probably damaging 1.00
R0018:Kif27 UTSW 13 58288053 missense probably benign
R0018:Kif27 UTSW 13 58288053 missense probably benign
R0049:Kif27 UTSW 13 58303564 missense probably damaging 1.00
R0049:Kif27 UTSW 13 58303564 missense probably damaging 1.00
R0481:Kif27 UTSW 13 58311264 splice site probably benign
R0960:Kif27 UTSW 13 58323967 missense probably damaging 0.99
R1015:Kif27 UTSW 13 58320215 missense probably damaging 1.00
R1205:Kif27 UTSW 13 58344205 missense probably benign 0.00
R1478:Kif27 UTSW 13 58303545 missense probably damaging 0.98
R1789:Kif27 UTSW 13 58344008 missense probably damaging 1.00
R1959:Kif27 UTSW 13 58293123 missense probably benign 0.00
R1961:Kif27 UTSW 13 58293123 missense probably benign 0.00
R3508:Kif27 UTSW 13 58313212 missense possibly damaging 0.88
R4168:Kif27 UTSW 13 58345748 missense probably benign 0.01
R4247:Kif27 UTSW 13 58287917 missense probably damaging 0.98
R4307:Kif27 UTSW 13 58344123 missense probably benign 0.00
R4621:Kif27 UTSW 13 58331013 missense probably benign 0.13
R4660:Kif27 UTSW 13 58323916 missense probably damaging 0.99
R4661:Kif27 UTSW 13 58323916 missense probably damaging 0.99
R4736:Kif27 UTSW 13 58328971 missense probably benign 0.04
R4770:Kif27 UTSW 13 58344377 missense probably damaging 1.00
R4853:Kif27 UTSW 13 58311258 missense probably benign 0.06
R4963:Kif27 UTSW 13 58328994 missense possibly damaging 0.85
R4998:Kif27 UTSW 13 58293143 missense probably damaging 0.98
R5134:Kif27 UTSW 13 58291090 missense possibly damaging 0.80
R5225:Kif27 UTSW 13 58293101 missense possibly damaging 0.88
R5835:Kif27 UTSW 13 58313146 critical splice donor site probably null
R5875:Kif27 UTSW 13 58311104 missense probably benign 0.01
R5929:Kif27 UTSW 13 58343970 missense probably benign 0.01
R6175:Kif27 UTSW 13 58311237 missense probably damaging 1.00
R6446:Kif27 UTSW 13 58345716 missense probably damaging 1.00
R6628:Kif27 UTSW 13 58354797 missense probably damaging 1.00
R7480:Kif27 UTSW 13 58288211 missense probably benign 0.34
R8381:Kif27 UTSW 13 58291177 missense probably benign 0.00
Z1088:Kif27 UTSW 13 58288033 missense probably benign
Protein Function and Prediction

Kif27 is a member of the kinesin superfamily (the kinesin-4 family (1)) of motor proteins that function in diverse cellular processes such as neuronal transport and mitosis/cytokinesis (2;3).  Kif27 is a paralogue of Kif7, another member of the kinesin family (4); both are putative ciliary motors on primary cilia (5).  Kif27 is an orthologue of the Drosophila melanogaster kinesin-like protein called Costal-2 (Cos2) that is essential for Hedgehog signaling during embryogenesis and tumorigenesis (6;7).

Expression/Localization

EST database analysis showed KIF27 mRNA expression in testis, pancreatic islet, germ cell tumors, and Jurkat T cells (4).

Background

Kif27Gt(OST441915)Lex/Gt(OST441915)Lex; MGI:4318693

involves: 129S5/SvEvBrd * C57BL/6J

Homozygous animals exhibit intraventricular hemorrhage, decreased body size, increased susceptibility to otitis media, hydrocephalus, and impaired mucociliary clearance; ciliary defects were not detected (8).

 

Mutations in the KIF27 paralogue, KIF7, are associated with acrocallosal syndrome (OMIM #200990), hydrolethalus syndrome 2 (OMIM #614120), and Joubert syndrome 12 (OMIM #200990). Acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet. Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay.

References
  8. Vogel, P., Read, R. W., Hansen, G. M., Payne, B. J., Small, D., Sands, A. T., and Zambrowicz, B. P. (2012) Congenital Hydrocephalus in Genetically Engineered Mice. Vet Pathol. 49, 166-181.
Posted On2012-10-05
Science WriterAnne Murray