Incidental Mutation 'IGL00509:Kif18a'
ID 7097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif18a
Ensembl Gene ENSMUSG00000027115
Gene Name kinesin family member 18A
Synonyms gcd2, N-8 kinesin, B130001M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00509
Quality Score
Status
Chromosome 2
Chromosomal Location 109111165-109172094 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109148333 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91WD7
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: 99,391,102 (GRCm39) probably null Het
Abr A G 11: 76,313,915 (GRCm39) L514P probably damaging Het
Ahnak T A 19: 8,987,315 (GRCm39) D2866E possibly damaging Het
Bfsp1 T A 2: 143,673,812 (GRCm39) T293S probably damaging Het
Ccr1 C T 9: 123,764,090 (GRCm39) V147I probably benign Het
Cd84 T C 1: 171,679,704 (GRCm39) probably null Het
Cep192 T C 18: 67,991,939 (GRCm39) V1939A possibly damaging Het
Chrnb4 A T 9: 54,943,878 (GRCm39) L80Q probably damaging Het
Ckmt2 A T 13: 92,011,382 (GRCm39) L76H probably damaging Het
Cntnap2 C T 6: 45,992,197 (GRCm39) P375S possibly damaging Het
Cped1 A T 6: 22,215,522 (GRCm39) L685F probably damaging Het
Dab2ip T C 2: 35,610,025 (GRCm39) S682P probably damaging Het
Dclk1 A T 3: 55,154,707 (GRCm39) T46S probably damaging Het
Eif2d T A 1: 131,094,089 (GRCm39) C427S probably benign Het
Fat4 T A 3: 38,943,188 (GRCm39) Y694N probably damaging Het
Gm15217 T C 14: 46,620,768 (GRCm39) probably benign Het
Gpr35 T C 1: 92,910,594 (GRCm39) I102T probably damaging Het
Grk4 T A 5: 34,873,634 (GRCm39) N233K probably damaging Het
Hdac3 T C 18: 38,087,938 (GRCm39) D10G possibly damaging Het
Hexb G A 13: 97,318,437 (GRCm39) T308M probably damaging Het
Inpp5j C A 11: 3,451,595 (GRCm39) D436Y possibly damaging Het
Kif24 T C 4: 41,413,826 (GRCm39) probably null Het
Lrp4 G A 2: 91,316,519 (GRCm39) probably benign Het
Mat2b T C 11: 40,575,554 (GRCm39) K161E possibly damaging Het
Nek2 T G 1: 191,559,490 (GRCm39) probably benign Het
Numa1 A G 7: 101,662,493 (GRCm39) T1965A possibly damaging Het
Oca2 G A 7: 55,930,594 (GRCm39) G137D probably damaging Het
Pdcl2 T A 5: 76,472,959 (GRCm39) D3V probably damaging Het
Ranbp17 T C 11: 33,443,402 (GRCm39) N91S probably benign Het
Siglech A T 7: 55,418,635 (GRCm39) D146V possibly damaging Het
Slc4a3 C T 1: 75,531,727 (GRCm39) T898M probably damaging Het
Sp3 A G 2: 72,768,406 (GRCm39) probably benign Het
Tln1 C T 4: 43,542,719 (GRCm39) V1396I probably benign Het
Ugt2a3 T A 5: 87,473,514 (GRCm39) M468L probably damaging Het
Other mutations in Kif18a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Kif18a APN 2 109,123,365 (GRCm39) missense probably damaging 1.00
IGL00904:Kif18a APN 2 109,122,471 (GRCm39) missense probably damaging 1.00
IGL00990:Kif18a APN 2 109,164,767 (GRCm39) missense probably benign 0.01
IGL01323:Kif18a APN 2 109,128,787 (GRCm39) missense probably benign 0.02
IGL01382:Kif18a APN 2 109,127,111 (GRCm39) nonsense probably null
IGL02205:Kif18a APN 2 109,137,363 (GRCm39) splice site probably benign
IGL02207:Kif18a APN 2 109,127,052 (GRCm39) missense probably damaging 0.99
IGL02970:Kif18a APN 2 109,118,233 (GRCm39) missense probably damaging 1.00
IGL03087:Kif18a APN 2 109,148,462 (GRCm39) splice site probably benign
R0030:Kif18a UTSW 2 109,163,663 (GRCm39) missense probably benign
R0482:Kif18a UTSW 2 109,118,188 (GRCm39) start codon destroyed probably null 1.00
R0631:Kif18a UTSW 2 109,128,667 (GRCm39) splice site probably benign
R1597:Kif18a UTSW 2 109,123,336 (GRCm39) missense probably damaging 1.00
R1640:Kif18a UTSW 2 109,120,161 (GRCm39) missense probably benign 0.25
R1675:Kif18a UTSW 2 109,128,748 (GRCm39) missense probably benign
R1723:Kif18a UTSW 2 109,133,227 (GRCm39) missense probably damaging 1.00
R2141:Kif18a UTSW 2 109,163,848 (GRCm39) missense probably benign 0.43
R2142:Kif18a UTSW 2 109,163,848 (GRCm39) missense probably benign 0.43
R2243:Kif18a UTSW 2 109,128,452 (GRCm39) missense probably damaging 1.00
R3609:Kif18a UTSW 2 109,168,941 (GRCm39) missense probably benign 0.02
R3611:Kif18a UTSW 2 109,168,941 (GRCm39) missense probably benign 0.02
R3882:Kif18a UTSW 2 109,137,319 (GRCm39) missense probably benign 0.01
R4292:Kif18a UTSW 2 109,128,471 (GRCm39) missense probably damaging 0.99
R4293:Kif18a UTSW 2 109,123,398 (GRCm39) missense probably benign
R4294:Kif18a UTSW 2 109,123,398 (GRCm39) missense probably benign
R4295:Kif18a UTSW 2 109,123,398 (GRCm39) missense probably benign
R4428:Kif18a UTSW 2 109,118,466 (GRCm39) missense probably damaging 1.00
R4791:Kif18a UTSW 2 109,118,220 (GRCm39) missense probably benign 0.16
R4819:Kif18a UTSW 2 109,122,471 (GRCm39) missense probably damaging 1.00
R5078:Kif18a UTSW 2 109,125,487 (GRCm39) splice site probably benign
R5175:Kif18a UTSW 2 109,133,323 (GRCm39) splice site probably null
R5319:Kif18a UTSW 2 109,148,370 (GRCm39) missense probably benign 0.00
R5821:Kif18a UTSW 2 109,120,190 (GRCm39) splice site probably benign
R5966:Kif18a UTSW 2 109,122,411 (GRCm39) missense probably damaging 1.00
R6886:Kif18a UTSW 2 109,127,008 (GRCm39) missense probably damaging 1.00
R7069:Kif18a UTSW 2 109,125,347 (GRCm39) missense probably damaging 0.99
R7765:Kif18a UTSW 2 109,137,285 (GRCm39) missense probably benign 0.00
R7801:Kif18a UTSW 2 109,118,190 (GRCm39) missense probably damaging 0.99
R7834:Kif18a UTSW 2 109,127,119 (GRCm39) missense probably damaging 1.00
R8442:Kif18a UTSW 2 109,125,318 (GRCm39) missense possibly damaging 0.68
R8510:Kif18a UTSW 2 109,127,109 (GRCm39) missense probably damaging 1.00
R8782:Kif18a UTSW 2 109,127,118 (GRCm39) missense probably damaging 1.00
R8936:Kif18a UTSW 2 109,163,966 (GRCm39) missense probably benign 0.00
R9014:Kif18a UTSW 2 109,123,414 (GRCm39) missense probably damaging 1.00
R9135:Kif18a UTSW 2 109,171,506 (GRCm39) missense possibly damaging 0.90
R9246:Kif18a UTSW 2 109,163,819 (GRCm39) missense probably benign
R9483:Kif18a UTSW 2 109,120,032 (GRCm39) missense probably damaging 1.00
R9512:Kif18a UTSW 2 109,171,517 (GRCm39) missense probably benign 0.11
R9644:Kif18a UTSW 2 109,171,517 (GRCm39) missense probably benign 0.11
R9721:Kif18a UTSW 2 109,123,400 (GRCm39) missense probably damaging 1.00
R9727:Kif18a UTSW 2 109,118,464 (GRCm39) missense probably damaging 1.00
Z1176:Kif18a UTSW 2 109,148,398 (GRCm39) missense possibly damaging 0.63
Z1177:Kif18a UTSW 2 109,125,302 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20