Incidental Mutation 'IGL02195:Kif4'
ID284029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif4
Ensembl Gene ENSMUSG00000034311
Gene Namekinesin family member 4
SynonymsN-5 kinesin, Kns4, D330050K22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.479) question?
Stock #IGL02195
Quality Score
Status
ChromosomeX
Chromosomal Location100625737-100727214 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100726216 bp
ZygosityHeterozygous
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]
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
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Gatb A T 3: 85,604,448 Y170F probably benign Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Meioc C A 11: 102,674,857 T433K possibly damaging Het
Mtmr7 A G 8: 40,560,905 V204A probably damaging Het
Nus1 A G 10: 52,433,369 D91G probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Trim72 A T 7: 128,007,964 M222L probably damaging Het
Other mutations in Kif4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Kif4 APN X 100638354 missense probably benign 0.05
R1398:Kif4 UTSW X 100689097 missense probably benign 0.00
R2114:Kif4 UTSW X 100665717 missense probably benign 0.26
R2115:Kif4 UTSW X 100665717 missense probably benign 0.26
R2117:Kif4 UTSW X 100665717 missense probably benign 0.26
R2257:Kif4 UTSW X 100726131 missense probably benign
Posted On2015-04-16