Incidental Mutation 'IGL02195:Kif4'
ID 284029
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 # IGL02195
Quality Score
Status
Chromosome X
Chromosomal Location 99669693-99770878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99769822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1154 (F1154S)
Ref Sequence ENSEMBL: ENSMUSP00000048383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019503] [ENSMUST00000048962] [ENSMUST00000113744]
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: ENSMUST00000019503
SMART Domains Protein: ENSMUSP00000019503
Gene: ENSMUSG00000019359

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 157 176 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
Pfam:GDPD 230 390 1.3e-26 PFAM
transmembrane domain 491 513 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000048962
AA Change: F1154S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048383
Gene: ENSMUSG00000034311
AA Change: F1154S

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 probably benign
Transcript: ENSMUST00000113744
SMART Domains Protein: ENSMUSP00000109373
Gene: ENSMUSG00000019359

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
transmembrane domain 120 142 N/A INTRINSIC
transmembrane domain 157 176 N/A INTRINSIC
transmembrane domain 189 211 N/A INTRINSIC
Pfam:GDPD 230 390 1.3e-26 PFAM
transmembrane domain 491 513 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156336
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep G T 7: 79,476,433 (GRCm39) A65D probably damaging Het
Birc6 C T 17: 75,004,376 (GRCm39) probably benign Het
Car11 G T 7: 45,350,716 (GRCm39) V71L probably damaging Het
Cecr2 A G 6: 120,708,367 (GRCm39) Y123C probably damaging Het
Dnm2 G A 9: 21,336,545 (GRCm39) V52M probably damaging Het
Fbxo21 T A 5: 118,140,219 (GRCm39) C560S probably damaging Het
Gatb A T 3: 85,511,755 (GRCm39) Y170F probably benign Het
Ighv1-54 A T 12: 115,157,570 (GRCm39) S26T possibly damaging Het
Ints8 A T 4: 11,221,222 (GRCm39) W718R probably damaging Het
Iqgap2 T A 13: 95,798,242 (GRCm39) probably benign Het
Klhl18 A G 9: 110,267,970 (GRCm39) C253R possibly damaging Het
Lilra6 T C 7: 3,917,549 (GRCm39) S149G probably benign Het
Lonrf1 G A 8: 36,687,102 (GRCm39) R745* probably null Het
Manea A C 4: 26,340,628 (GRCm39) Y111* probably null Het
Map2k1 A G 9: 64,101,090 (GRCm39) I196T probably benign Het
Matn4 T C 2: 164,242,972 (GRCm39) D42G probably damaging Het
Meioc C A 11: 102,565,683 (GRCm39) T433K possibly damaging Het
Mtmr7 A G 8: 41,013,946 (GRCm39) V204A probably damaging Het
Nus1 A G 10: 52,309,465 (GRCm39) D91G probably damaging Het
Or8a1b A G 9: 37,623,417 (GRCm39) S53P probably benign Het
Pisd A G 5: 32,894,659 (GRCm39) L549P probably damaging Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Prdm15 A G 16: 97,637,029 (GRCm39) V96A probably damaging Het
Prune2 C A 19: 17,096,921 (GRCm39) D808E probably benign Het
Sema5b G A 16: 35,480,849 (GRCm39) probably null Het
Shank3 A T 15: 89,432,321 (GRCm39) Q947L probably damaging Het
Sned1 A G 1: 93,201,882 (GRCm39) E616G probably benign Het
Snx18 T C 13: 113,753,376 (GRCm39) H519R probably damaging Het
Spring1 T C 5: 118,397,462 (GRCm39) L148P probably damaging Het
Syde2 A G 3: 145,707,911 (GRCm39) T617A probably damaging Het
Tmem139 G T 6: 42,240,901 (GRCm39) R162L probably damaging Het
Trim72 A T 7: 127,607,136 (GRCm39) M222L probably damaging Het
Other mutations in Kif4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Kif4 APN X 99,681,960 (GRCm39) missense probably benign 0.05
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 2015-04-16