Incidental Mutation 'R5490:Kif5c'
ID 432025
Institutional Source Beutler Lab
Gene Symbol Kif5c
Ensembl Gene ENSMUSG00000026764
Gene Name kinesin family member 5C
Synonyms Khc
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 49509310-49664790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49648870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 938 (V938A)
Ref Sequence ENSEMBL: ENSMUSP00000028102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028102]
AlphaFold P28738
PDB Structure Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-AlFx [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-VO4 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028102
AA Change: V938A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: V938A

DomainStartEndE-ValueType
KISc 6 335 2.8e-173 SMART
low complexity region 340 357 N/A INTRINSIC
coiled coil region 407 541 N/A INTRINSIC
coiled coil region 592 803 N/A INTRINSIC
coiled coil region 826 915 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132968
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Kif5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Kif5c APN 2 49,584,828 (GRCm39) missense possibly damaging 0.81
IGL01432:Kif5c APN 2 49,591,089 (GRCm39) missense probably damaging 1.00
IGL01459:Kif5c APN 2 49,625,569 (GRCm39) missense probably benign 0.36
IGL02127:Kif5c APN 2 49,591,122 (GRCm39) splice site probably null
IGL03088:Kif5c APN 2 49,634,455 (GRCm39) missense probably benign 0.01
IGL03379:Kif5c APN 2 49,591,104 (GRCm39) missense probably damaging 0.97
IGL02988:Kif5c UTSW 2 49,509,729 (GRCm39) missense probably damaging 0.97
PIT4131001:Kif5c UTSW 2 49,584,044 (GRCm39) missense probably damaging 0.99
PIT4469001:Kif5c UTSW 2 49,631,360 (GRCm39) missense probably benign 0.00
R0017:Kif5c UTSW 2 49,622,725 (GRCm39) missense probably benign
R0017:Kif5c UTSW 2 49,622,725 (GRCm39) missense probably benign
R0116:Kif5c UTSW 2 49,642,251 (GRCm39) splice site probably benign
R0550:Kif5c UTSW 2 49,648,924 (GRCm39) missense possibly damaging 0.53
R0760:Kif5c UTSW 2 49,578,765 (GRCm39) missense probably damaging 1.00
R0967:Kif5c UTSW 2 49,588,128 (GRCm39) unclassified probably benign
R1015:Kif5c UTSW 2 49,634,377 (GRCm39) missense probably benign 0.13
R1758:Kif5c UTSW 2 49,613,145 (GRCm39) missense probably benign 0.00
R1786:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R1828:Kif5c UTSW 2 49,570,252 (GRCm39) critical splice donor site probably null
R2130:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R2132:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R2237:Kif5c UTSW 2 49,584,020 (GRCm39) missense probably benign 0.35
R3970:Kif5c UTSW 2 49,578,756 (GRCm39) missense probably damaging 1.00
R4439:Kif5c UTSW 2 49,578,737 (GRCm39) missense possibly damaging 0.90
R5260:Kif5c UTSW 2 49,625,602 (GRCm39) missense probably damaging 0.99
R5318:Kif5c UTSW 2 49,561,840 (GRCm39) missense probably benign
R5345:Kif5c UTSW 2 49,613,078 (GRCm39) missense probably benign
R5496:Kif5c UTSW 2 49,620,202 (GRCm39) missense possibly damaging 0.69
R5567:Kif5c UTSW 2 49,620,211 (GRCm39) missense possibly damaging 0.64
R5570:Kif5c UTSW 2 49,620,211 (GRCm39) missense possibly damaging 0.64
R6019:Kif5c UTSW 2 49,625,521 (GRCm39) missense probably benign 0.09
R6688:Kif5c UTSW 2 49,578,749 (GRCm39) missense probably benign 0.06
R7006:Kif5c UTSW 2 49,625,526 (GRCm39) missense probably damaging 0.97
R7009:Kif5c UTSW 2 49,647,441 (GRCm39) missense probably benign
R7081:Kif5c UTSW 2 49,631,373 (GRCm39) missense probably benign 0.00
R7372:Kif5c UTSW 2 49,648,671 (GRCm39) splice site probably null
R7512:Kif5c UTSW 2 49,590,977 (GRCm39) missense probably damaging 1.00
R7549:Kif5c UTSW 2 49,591,105 (GRCm39) missense probably benign 0.11
R7764:Kif5c UTSW 2 49,639,339 (GRCm39) missense probably damaging 1.00
R7764:Kif5c UTSW 2 49,617,973 (GRCm39) critical splice donor site probably null
R7904:Kif5c UTSW 2 49,591,095 (GRCm39) missense probably damaging 1.00
R8292:Kif5c UTSW 2 49,625,497 (GRCm39) missense probably benign 0.05
R8735:Kif5c UTSW 2 49,584,783 (GRCm39) missense probably damaging 1.00
R8816:Kif5c UTSW 2 49,584,799 (GRCm39) missense probably damaging 1.00
R9109:Kif5c UTSW 2 49,620,151 (GRCm39) missense probably damaging 1.00
R9139:Kif5c UTSW 2 49,620,291 (GRCm39) missense probably benign 0.00
R9257:Kif5c UTSW 2 49,590,604 (GRCm39) nonsense probably null
R9325:Kif5c UTSW 2 49,639,378 (GRCm39) missense probably benign 0.04
R9368:Kif5c UTSW 2 49,622,792 (GRCm39) missense probably damaging 0.99
R9748:Kif5c UTSW 2 49,584,859 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTGAATTATGTGGGGTGTCC -3'
(R):5'- GGCCCAGATTTCTCTTACCTGG -3'

Sequencing Primer
(F):5'- CCTTAGTTTATTTTTCAGAGGCCAG -3'
(R):5'- CAGATTTCTCTTACCTGGATCCC -3'
Posted On 2016-10-05