Incidental Mutation 'IGL02017:Kif4'
ID 183779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif4
Ensembl Gene ENSMUSG00000034311
Gene Name kinesin family member 4
Synonyms N-5 kinesin, D330050K22Rik, Kns4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.666) question?
Stock # IGL02017
Quality Score
Status
Chromosome X
Chromosomal Location 99669693-99770878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99681960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 197 (N197S)
Ref Sequence ENSEMBL: ENSMUSP00000048383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048962]
AlphaFold P33174
PDB Structure Crystal Structure of the Kif4 Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif4 Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000048962
AA Change: N197S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048383
Gene: ENSMUSG00000034311
AA Change: N197S

DomainStartEndE-ValueType
KISc 7 345 6.98e-183 SMART
low complexity region 352 368 N/A INTRINSIC
Blast:KISc 369 399 2e-8 BLAST
Blast:KISc 424 501 6e-27 BLAST
low complexity region 525 543 N/A INTRINSIC
coiled coil region 555 791 N/A INTRINSIC
coiled coil region 815 848 N/A INTRINSIC
low complexity region 916 927 N/A INTRINSIC
coiled coil region 935 1000 N/A INTRINSIC
CXC 1081 1123 1.66e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156386
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin 4 subfamily of kinesin related proteins. The encoded protein is an ATP dependent microtubule-based motor protein that is involved in the intracellular transport of membranous organelles. This protein also associates with condensed chromosome arms and may be involved in maintaining chromosome integrity during mitosis. This protein may also be involved in the organization of the central spindle prior to cytokinesis. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, Mar 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,271,775 (GRCm39) I544N probably benign Het
Ago2 T C 15: 72,998,366 (GRCm39) T271A probably benign Het
Aox3 A C 1: 58,160,151 (GRCm39) K111N probably damaging Het
Arhgap39 G A 15: 76,621,237 (GRCm39) R455C probably damaging Het
Brcc3 A G X: 74,466,389 (GRCm39) D67G possibly damaging Het
Crot T G 5: 9,020,046 (GRCm39) probably benign Het
Dipk1c A T 18: 84,754,950 (GRCm39) D142V probably damaging Het
Dusp5 A G 19: 53,525,937 (GRCm39) H193R probably damaging Het
Ect2 G A 3: 27,176,193 (GRCm39) R644* probably null Het
Epn3 A G 11: 94,385,852 (GRCm39) S190P probably benign Het
Fam3c A G 6: 22,343,276 (GRCm39) M1T probably null Het
Krt1c T C 15: 101,724,939 (GRCm39) N224D probably damaging Het
Lama1 A G 17: 68,071,720 (GRCm39) H869R probably benign Het
Lrrc14 G T 15: 76,597,942 (GRCm39) R224L probably damaging Het
Macf1 T C 4: 123,393,724 (GRCm39) D864G probably damaging Het
Map3k11 C T 19: 5,747,651 (GRCm39) S603F possibly damaging Het
Mxra7 A G 11: 116,702,747 (GRCm39) probably null Het
Myo5b C A 18: 74,850,070 (GRCm39) D1139E probably damaging Het
Nek9 T C 12: 85,376,697 (GRCm39) Y228C probably damaging Het
Nxph1 T C 6: 9,247,743 (GRCm39) I238T probably damaging Het
Or2r11 T C 6: 42,437,758 (GRCm39) H65R probably benign Het
Or5ac17 A G 16: 59,036,310 (GRCm39) L222P probably damaging Het
Or9i1 T A 19: 13,839,595 (GRCm39) V146E possibly damaging Het
Pdpn A G 4: 142,997,140 (GRCm39) probably benign Het
Plbd2 T C 5: 120,626,623 (GRCm39) T329A probably damaging Het
Ptpn6 T C 6: 124,709,449 (GRCm39) D8G probably damaging Het
Rad54l2 T C 9: 106,631,239 (GRCm39) D16G possibly damaging Het
Slc43a3 A G 2: 84,768,585 (GRCm39) E68G probably damaging Het
Snph G A 2: 151,442,902 (GRCm39) R16C probably damaging Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null Het
Vmn1r18 G A 6: 57,366,741 (GRCm39) A271V probably benign Het
Other mutations in Kif4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Kif4 APN X 99,769,822 (GRCm39) missense probably damaging 1.00
R1398:Kif4 UTSW X 99,732,703 (GRCm39) missense probably benign 0.00
R2114:Kif4 UTSW X 99,709,323 (GRCm39) missense probably benign 0.26
R2115:Kif4 UTSW X 99,709,323 (GRCm39) missense probably benign 0.26
R2117:Kif4 UTSW X 99,709,323 (GRCm39) missense probably benign 0.26
R2257:Kif4 UTSW X 99,769,737 (GRCm39) missense probably benign
Posted On 2014-05-07