Incidental Mutation 'R0030:Kif18a'
ID15394
Institutional Source Beutler Lab
Gene Symbol Kif18a
Ensembl Gene ENSMUSG00000027115
Gene Namekinesin family member 18A
SynonymsB130001M12Rik, N-8 kinesin
MMRRC Submission 038324-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0030 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location109280738-109341747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 109333318 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 671 (I671L)
Ref Sequence ENSEMBL: ENSMUSP00000028527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028527]
Predicted Effect probably benign
Transcript: ENSMUST00000028527
AA Change: I671L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: I671L

DomainStartEndE-ValueType
KISc 9 363 8.91e-158 SMART
Blast:KISc 382 433 1e-14 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,637,747 S316R probably damaging Het
Brwd1 A G 16: 96,021,256 S1250P probably damaging Het
Cacna1s T C 1: 136,094,989 probably null Het
Cass4 G T 2: 172,427,842 E617* probably null Het
Cct4 T C 11: 23,001,357 probably benign Het
Cdh7 C T 1: 110,138,068 Q691* probably null Het
Crip1 G A 12: 113,153,376 probably null Het
Dnah5 A T 15: 28,451,517 D4367V probably benign Het
Dock3 A G 9: 106,912,313 V1514A possibly damaging Het
Eps15l1 A G 8: 72,373,050 S646P probably benign Het
Faap24 A T 7: 35,392,860 F211I probably damaging Het
Flrt3 A T 2: 140,660,317 Y464N probably damaging Het
Foxi2 A G 7: 135,411,616 T192A probably damaging Het
Gm7298 T A 6: 121,774,050 F695L probably benign Het
Ifnk T G 4: 35,152,489 V139G probably benign Het
Lcn10 T C 2: 25,685,081 F154L probably damaging Het
Med12l T G 3: 59,248,655 L1198R probably damaging Het
Mmp23 G A 4: 155,651,311 R268* probably null Het
Mrps30 T C 13: 118,382,995 D298G possibly damaging Het
Myh7 T A 14: 54,991,970 T124S probably benign Het
Odf4 T A 11: 68,926,941 E9D probably benign Het
Pqlc2 A G 4: 139,306,453 S52P probably damaging Het
Ptchd4 T A 17: 42,317,108 C153* probably null Het
Scp2 T A 4: 108,107,690 probably null Het
Slc16a10 A G 10: 40,076,823 V225A probably benign Het
Tbk1 A G 10: 121,561,624 V381A probably benign Het
Tdrd6 T C 17: 43,626,591 K1189E possibly damaging Het
Ttc39a C A 4: 109,422,973 H151N probably benign Het
Ush2a C T 1: 188,822,657 T3544M possibly damaging Het
Vnn1 A G 10: 23,900,846 H365R probably benign Het
Other mutations in Kif18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Kif18a APN 2 109317988 missense possibly damaging 0.93
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
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 not run
R8510:Kif18a UTSW 2 109296764 missense not run
Z1176:Kif18a UTSW 2 109318053 missense possibly damaging 0.63
Z1177:Kif18a UTSW 2 109294957 missense probably damaging 1.00
Posted On2012-12-17