Incidental Mutation 'R4168:Kif27'
ID 320669
Institutional Source Beutler Lab
Gene Symbol Kif27
Ensembl Gene ENSMUSG00000060176
Gene Name kinesin family member 27
Synonyms 4930517I18Rik
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 58435316-58506936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58493562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 127 (I127T)
Ref Sequence ENSEMBL: ENSMUSP00000153598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043605] [ENSMUST00000224694] [ENSMUST00000225388]
AlphaFold Q7M6Z4
Predicted Effect probably benign
Transcript: ENSMUST00000043605
AA Change: I127T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000043304
Gene: ENSMUSG00000060176
AA Change: I127T

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 probably benign
Transcript: ENSMUST00000224694
Predicted Effect probably benign
Transcript: ENSMUST00000225388
AA Change: I127T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Dmap1 T A 4: 117,538,507 (GRCm39) H54L possibly damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zc2hc1a A G 3: 7,583,451 (GRCm39) T41A probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly 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
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
R4963:Kif27 UTSW 13 58,476,808 (GRCm39) missense possibly damaging 0.85
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'- TCTTGGCATCCTGACAGGTC -3'
(R):5'- GTCCATTACAGAATCATCCATGGTTAC -3'

Sequencing Primer
(F):5'- AGGTCCCTGGGTCTTACCAAG -3'
(R):5'- ATCCGTAACGAGATCTGGCG -3'
Posted On 2015-06-12