Incidental Mutation 'IGL02205:Kif18a'
ID284457
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 #IGL02205
Quality Score
Status
Chromosome2
Chromosomal Location109280738-109341747 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 109307018 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028527]
Predicted Effect probably benign
Transcript: ENSMUST00000028527
SMART Domains Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115

DomainStartEndE-ValueType
KISc 9 363 8.91e-158 SMART
Blast:KISc 382 433 1e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151395
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
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging 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
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 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 On2015-04-16