Incidental Mutation 'IGL00509:Kif18a'
ID7097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif18a
Ensembl Gene ENSMUSG00000027115
Gene Namekinesin family member 18A
SynonymsB130001M12Rik, N-8 kinesin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00509
Quality Score
Status
Chromosome2
Chromosomal Location109280738-109341747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109317988 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 609 (E609G)
Ref Sequence ENSEMBL: ENSMUSP00000028527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028527]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028527
AA Change: E609G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: E609G

DomainStartEndE-ValueType
KISc 9 363 8.91e-158 SMART
Blast:KISc 382 433 1e-14 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for loss of function alleles exhibit reduced female fertility and male infertility due to primordial germ cell depletion. The sterility phenotype is incompletely penetrant, has variable expressivity, and is modulated by strain background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,243,243 probably null Het
Abr A G 11: 76,423,089 L514P probably damaging Het
Ahnak T A 19: 9,009,951 D2866E possibly damaging Het
Bfsp1 T A 2: 143,831,892 T293S probably damaging Het
Ccr1 C T 9: 123,964,053 V147I probably benign Het
Cd84 T C 1: 171,852,137 probably null Het
Cep192 T C 18: 67,858,868 V1939A possibly damaging Het
Chrnb4 A T 9: 55,036,594 L80Q probably damaging Het
Ckmt2 A T 13: 91,863,263 L76H probably damaging Het
Cntnap2 C T 6: 46,015,263 P375S possibly damaging Het
Cped1 A T 6: 22,215,523 L685F probably damaging Het
Dab2ip T C 2: 35,720,013 S682P probably damaging Het
Dclk1 A T 3: 55,247,286 T46S probably damaging Het
Eif2d T A 1: 131,166,352 C427S probably benign Het
Fat4 T A 3: 38,889,039 Y694N probably damaging Het
Gm15217 T C 14: 46,383,311 probably benign Het
Gpr35 T C 1: 92,982,872 I102T probably damaging Het
Grk4 T A 5: 34,716,290 N233K probably damaging Het
Hdac3 T C 18: 37,954,885 D10G possibly damaging Het
Hexb G A 13: 97,181,929 T308M probably damaging Het
Inpp5j C A 11: 3,501,595 D436Y possibly damaging Het
Kif24 T C 4: 41,413,826 probably null Het
Lrp4 G A 2: 91,486,174 probably benign Het
Mat2b T C 11: 40,684,727 K161E possibly damaging Het
Nek2 T G 1: 191,827,378 probably benign Het
Numa1 A G 7: 102,013,286 T1965A possibly damaging Het
Oca2 G A 7: 56,280,846 G137D probably damaging Het
Pdcl2 T A 5: 76,325,112 D3V probably damaging Het
Ranbp17 T C 11: 33,493,402 N91S probably benign Het
Siglech A T 7: 55,768,887 D146V possibly damaging Het
Slc4a3 C T 1: 75,555,083 T898M probably damaging Het
Sp3 A G 2: 72,938,062 probably benign Het
Tln1 C T 4: 43,542,719 V1396I probably benign Het
Ugt2a3 T A 5: 87,325,655 M468L probably damaging Het
Other mutations in Kif18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Kif18a APN 2 109293020 missense probably damaging 1.00
IGL00904:Kif18a APN 2 109292126 missense probably damaging 1.00
IGL00990:Kif18a APN 2 109334422 missense probably benign 0.01
IGL01323:Kif18a APN 2 109298442 missense probably benign 0.02
IGL01382:Kif18a APN 2 109296766 nonsense probably null
IGL02205:Kif18a APN 2 109307018 splice site probably benign
IGL02207:Kif18a APN 2 109296707 missense probably damaging 0.99
IGL02970:Kif18a APN 2 109287888 missense probably damaging 1.00
IGL03087:Kif18a APN 2 109318117 splice site probably benign
R0030:Kif18a UTSW 2 109333318 missense probably benign
R0482:Kif18a UTSW 2 109287843 start codon destroyed probably null 1.00
R0631:Kif18a UTSW 2 109298322 splice site probably benign
R1597:Kif18a UTSW 2 109292991 missense probably damaging 1.00
R1640:Kif18a UTSW 2 109289816 missense probably benign 0.25
R1675:Kif18a UTSW 2 109298403 missense probably benign
R1723:Kif18a UTSW 2 109302882 missense probably damaging 1.00
R2141:Kif18a UTSW 2 109333503 missense probably benign 0.43
R2142:Kif18a UTSW 2 109333503 missense probably benign 0.43
R2243:Kif18a UTSW 2 109298107 missense probably damaging 1.00
R3609:Kif18a UTSW 2 109338596 missense probably benign 0.02
R3611:Kif18a UTSW 2 109338596 missense probably benign 0.02
R3882:Kif18a UTSW 2 109306974 missense probably benign 0.01
R4292:Kif18a UTSW 2 109298126 missense probably damaging 0.99
R4293:Kif18a UTSW 2 109293053 missense probably benign
R4294:Kif18a UTSW 2 109293053 missense probably benign
R4295:Kif18a UTSW 2 109293053 missense probably benign
R4428:Kif18a UTSW 2 109288121 missense probably damaging 1.00
R4791:Kif18a UTSW 2 109287875 missense probably benign 0.16
R4819:Kif18a UTSW 2 109292126 missense probably damaging 1.00
R5078:Kif18a UTSW 2 109295142 splice site probably benign
R5175:Kif18a UTSW 2 109302978 splice site probably null
R5319:Kif18a UTSW 2 109318025 missense probably benign 0.00
R5821:Kif18a UTSW 2 109289845 splice site probably benign
R5966:Kif18a UTSW 2 109292066 missense probably damaging 1.00
R6886:Kif18a UTSW 2 109296663 missense probably damaging 1.00
R7069:Kif18a UTSW 2 109295002 missense probably damaging 0.99
R7765:Kif18a UTSW 2 109306940 missense probably benign 0.00
R7801:Kif18a UTSW 2 109287845 missense probably damaging 0.99
R7834:Kif18a UTSW 2 109296774 missense probably damaging 1.00
R8442:Kif18a UTSW 2 109294973 missense possibly damaging 0.68
R8510:Kif18a UTSW 2 109296764 missense probably damaging 1.00
Z1176:Kif18a UTSW 2 109318053 missense possibly damaging 0.63
Z1177:Kif18a UTSW 2 109294957 missense probably damaging 1.00
Posted On2012-04-20