Incidental Mutation 'R4963:Kif27'
ID 383744
Institutional Source Beutler Lab
Gene Symbol Kif27
Ensembl Gene ENSMUSG00000060176
Gene Name kinesin family member 27
Synonyms 4930517I18Rik
MMRRC Submission 042560-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4963 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 58435316-58506936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58476808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 614 (D614G)
Ref Sequence ENSEMBL: ENSMUSP00000153598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043605] [ENSMUST00000224694] [ENSMUST00000225388]
AlphaFold Q7M6Z4
Predicted Effect possibly damaging
Transcript: ENSMUST00000043605
AA Change: D614G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: D614G

DomainStartEndE-ValueType
KISc 3 349 9.18e-160 SMART
low complexity region 369 385 N/A INTRINSIC
coiled coil region 386 418 N/A INTRINSIC
Blast:KISc 486 566 5e-29 BLAST
coiled coil region 710 790 N/A INTRINSIC
coiled coil region 835 891 N/A INTRINSIC
coiled coil region 916 972 N/A INTRINSIC
low complexity region 993 1008 N/A INTRINSIC
coiled coil region 1010 1078 N/A INTRINSIC
coiled coil region 1186 1226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104240
Predicted Effect probably benign
Transcript: ENSMUST00000224694
Predicted Effect possibly damaging
Transcript: ENSMUST00000225388
AA Change: D614G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.0688 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the KIF27 (kinesin 4) sub-family of the mammalian kinesin family. The gene is an ortholog of the Drosophila Cos2 gene, which plays an important role in the Hedgehog signaling pathway. The encoded protein contains an N-terminal motor domain which includes nucleotide-binding and microtubule-interacting regions, a stalk domain containing a predicted coiled coil motif and a C-terminal tail domain. Alternatively spliced transcript variants have been observed for this gene. Pseudogenes associated with this gene are located on chromosome 9. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mice are small and die by 8 weeks and exhibit hydrocephalus, rhinitis and otitis media. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted(2) Gene trapped(7)

Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,470,582 (GRCm39) I133N probably benign Het
Abca15 T C 7: 119,960,142 (GRCm39) S642P probably damaging Het
Abcg5 G T 17: 84,967,569 (GRCm39) Y410* probably null Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ank2 G A 3: 126,825,745 (GRCm39) T418M probably benign Het
Arhgap17 T C 7: 122,907,583 (GRCm39) R260G possibly damaging Het
Atp1a3 T C 7: 24,694,051 (GRCm39) T381A probably damaging Het
Cep89 T G 7: 35,102,577 (GRCm39) S97A probably benign Het
Cyp2j11 T C 4: 96,204,619 (GRCm39) D309G probably damaging Het
Dcbld2 T C 16: 58,286,145 (GRCm39) I768T probably benign Het
Defa41 C T 8: 21,691,774 (GRCm39) S52F probably damaging Het
Dgke A G 11: 88,941,628 (GRCm39) V249A possibly damaging Het
Dnah9 T C 11: 65,975,437 (GRCm39) probably null Het
Dnajc3 C A 14: 119,215,585 (GRCm39) H502N probably benign Het
Dsp A G 13: 38,381,846 (GRCm39) T2265A probably damaging Het
Enpp6 A G 8: 47,518,496 (GRCm39) D208G probably benign Het
Evc C T 5: 37,479,393 (GRCm39) probably null Het
Fam98a A G 17: 75,845,977 (GRCm39) S285P probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gsdmc A G 15: 63,676,229 (GRCm39) probably null Het
Gtpbp4 C A 13: 9,035,253 (GRCm39) D369Y probably damaging Het
H2-M1 A G 17: 36,982,630 (GRCm39) Y77H probably benign Het
Irx2 T C 13: 72,780,729 (GRCm39) V466A possibly damaging Het
Kcnh4 C A 11: 100,643,079 (GRCm39) W396L probably damaging Het
Kirrel2 C A 7: 30,150,226 (GRCm39) probably null Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Ldb3 T G 14: 34,288,815 (GRCm39) S252R probably damaging Het
Marchf8 G A 6: 116,363,232 (GRCm39) probably benign Het
Mdn1 C A 4: 32,756,512 (GRCm39) Q4735K probably benign Het
Mfrp A T 9: 44,014,561 (GRCm39) H236L probably benign Het
Mlph A G 1: 90,867,112 (GRCm39) D378G probably damaging Het
Msi1 T A 5: 115,588,944 (GRCm39) Y320N probably damaging Het
Mtmr11 T C 3: 96,070,567 (GRCm39) probably benign Het
Mtpap T C 18: 4,375,638 (GRCm39) V6A probably benign Het
Nedd1 C A 10: 92,530,893 (GRCm39) D399Y probably damaging Het
Ninl A G 2: 150,781,829 (GRCm39) Y234H probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nle1 A G 11: 82,795,763 (GRCm39) V228A probably benign Het
Npy4r T A 14: 33,868,973 (GRCm39) D105V probably damaging Het
Or1f12 A G 13: 21,722,152 (GRCm39) Y8H probably damaging Het
Palld C T 8: 62,156,244 (GRCm39) V464M probably damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Pex1 T A 5: 3,659,924 (GRCm39) M476K probably benign Het
Pkhd1l1 G A 15: 44,367,421 (GRCm39) S773N probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prmt9 A G 8: 78,282,358 (GRCm39) D85G probably damaging Het
Ptpn12 T A 5: 21,220,706 (GRCm39) probably null Het
Rbm19 T A 5: 120,279,631 (GRCm39) M766K probably damaging Het
Rdh11 A G 12: 79,235,380 (GRCm39) V72A probably benign Het
Rxfp3 A G 15: 11,036,367 (GRCm39) V335A probably damaging Het
Sema6a T C 18: 47,431,318 (GRCm39) K127E possibly damaging Het
Slc5a1 C T 5: 33,318,126 (GRCm39) T593I probably benign Het
Slco1a1 A G 6: 141,868,825 (GRCm39) F380L probably benign Het
Smc2 T C 4: 52,450,826 (GRCm39) S215P probably damaging Het
Smyd2 A T 1: 189,614,385 (GRCm39) V381E probably damaging Het
Smyd4 C T 11: 75,273,120 (GRCm39) S60L probably benign Het
Spata18 T A 5: 73,836,336 (GRCm39) V419E probably damaging Het
Terb1 A G 8: 105,208,950 (GRCm39) L376S probably damaging Het
Timd2 T C 11: 46,573,617 (GRCm39) E129G possibly damaging Het
Topbp1 C A 9: 103,197,804 (GRCm39) T461K probably benign Het
Tpp2 G A 1: 44,031,428 (GRCm39) R1069Q probably damaging Het
Ttn A G 2: 76,584,289 (GRCm39) V22273A probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Uqcrfs1 A T 13: 30,724,746 (GRCm39) F265I probably damaging Het
Vmn2r107 A T 17: 20,595,403 (GRCm39) Q652L probably damaging Het
Vwf C T 6: 125,644,446 (GRCm39) R2434* probably null Het
Wdhd1 A G 14: 47,506,146 (GRCm39) V256A possibly damaging Het
Zfp442 A T 2: 150,250,415 (GRCm39) C439S probably damaging Het
Zfp709 A G 8: 72,643,632 (GRCm39) T354A probably benign Het
Zswim2 A T 2: 83,755,454 (GRCm39) I149N probably damaging Het
Other mutations in Kif27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Kif27 APN 13 58,485,418 (GRCm39) missense probably benign
IGL00421:Kif27 APN 13 58,491,703 (GRCm39) missense probably damaging 1.00
IGL00903:Kif27 APN 13 58,492,486 (GRCm39) missense possibly damaging 0.69
IGL01024:Kif27 APN 13 58,436,015 (GRCm39) missense possibly damaging 0.71
IGL01070:Kif27 APN 13 58,491,907 (GRCm39) missense probably damaging 1.00
IGL01761:Kif27 APN 13 58,485,459 (GRCm39) missense probably benign
IGL02160:Kif27 APN 13 58,473,812 (GRCm39) missense probably damaging 1.00
IGL03162:Kif27 APN 13 58,459,021 (GRCm39) missense probably benign 0.03
P0016:Kif27 UTSW 13 58,451,266 (GRCm39) nonsense probably null
R0016:Kif27 UTSW 13 58,502,528 (GRCm39) missense probably damaging 1.00
R0016:Kif27 UTSW 13 58,502,528 (GRCm39) missense probably damaging 1.00
R0018:Kif27 UTSW 13 58,435,867 (GRCm39) missense probably benign
R0018:Kif27 UTSW 13 58,435,867 (GRCm39) missense probably benign
R0049:Kif27 UTSW 13 58,451,378 (GRCm39) missense probably damaging 1.00
R0049:Kif27 UTSW 13 58,451,378 (GRCm39) missense probably damaging 1.00
R0481:Kif27 UTSW 13 58,459,078 (GRCm39) splice site probably benign
R0960:Kif27 UTSW 13 58,471,781 (GRCm39) missense probably damaging 0.99
R1015:Kif27 UTSW 13 58,468,029 (GRCm39) missense probably damaging 1.00
R1205:Kif27 UTSW 13 58,492,019 (GRCm39) missense probably benign 0.00
R1478:Kif27 UTSW 13 58,451,359 (GRCm39) missense probably damaging 0.98
R1789:Kif27 UTSW 13 58,491,822 (GRCm39) missense probably damaging 1.00
R1959:Kif27 UTSW 13 58,440,937 (GRCm39) missense probably benign 0.00
R1961:Kif27 UTSW 13 58,440,937 (GRCm39) missense probably benign 0.00
R3508:Kif27 UTSW 13 58,461,026 (GRCm39) missense possibly damaging 0.88
R4168:Kif27 UTSW 13 58,493,562 (GRCm39) missense probably benign 0.01
R4247:Kif27 UTSW 13 58,435,731 (GRCm39) missense probably damaging 0.98
R4307:Kif27 UTSW 13 58,491,937 (GRCm39) missense probably benign 0.00
R4621:Kif27 UTSW 13 58,478,827 (GRCm39) missense probably benign 0.13
R4660:Kif27 UTSW 13 58,471,730 (GRCm39) missense probably damaging 0.99
R4661:Kif27 UTSW 13 58,471,730 (GRCm39) missense probably damaging 0.99
R4736:Kif27 UTSW 13 58,476,785 (GRCm39) missense probably benign 0.04
R4770:Kif27 UTSW 13 58,492,191 (GRCm39) missense probably damaging 1.00
R4853:Kif27 UTSW 13 58,459,072 (GRCm39) missense probably benign 0.06
R4998:Kif27 UTSW 13 58,440,957 (GRCm39) missense probably damaging 0.98
R5134:Kif27 UTSW 13 58,438,904 (GRCm39) missense possibly damaging 0.80
R5225:Kif27 UTSW 13 58,440,915 (GRCm39) missense possibly damaging 0.88
R5835:Kif27 UTSW 13 58,460,960 (GRCm39) critical splice donor site probably null
R5875:Kif27 UTSW 13 58,458,918 (GRCm39) missense probably benign 0.01
R5929:Kif27 UTSW 13 58,491,784 (GRCm39) missense probably benign 0.01
R6175:Kif27 UTSW 13 58,459,051 (GRCm39) missense probably damaging 1.00
R6446:Kif27 UTSW 13 58,493,530 (GRCm39) missense probably damaging 1.00
R6628:Kif27 UTSW 13 58,502,611 (GRCm39) missense probably damaging 1.00
R7480:Kif27 UTSW 13 58,436,025 (GRCm39) missense probably benign 0.34
R8381:Kif27 UTSW 13 58,438,991 (GRCm39) missense probably benign 0.00
R8815:Kif27 UTSW 13 58,476,818 (GRCm39) missense probably damaging 0.97
R8993:Kif27 UTSW 13 58,473,912 (GRCm39) missense possibly damaging 0.93
R9181:Kif27 UTSW 13 58,492,543 (GRCm39) missense probably damaging 1.00
R9486:Kif27 UTSW 13 58,492,348 (GRCm39) missense probably damaging 1.00
Z1088:Kif27 UTSW 13 58,435,847 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATAATGCTTACCAAGAGCCT -3'
(R):5'- GGAACTGTATGGTACCAGAAAGA -3'

Sequencing Primer
(F):5'- ATGCTTACCAAGAGCCTCTGCG -3'
(R):5'- CCTTCCAAGTGCTGGCATTAAAGG -3'
Posted On 2016-04-27