Incidental Mutation 'R2130:Kif5c'
ID 227916
Institutional Source Beutler Lab
Gene Symbol Kif5c
Ensembl Gene ENSMUSG00000026764
Gene Name kinesin family member 5C
Synonyms Khc
MMRRC Submission 040133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2130 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 49509310-49664790 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 49648817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 94% (94/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Aadacl2fm3 T C 3: 59,772,769 (GRCm39) V91A probably damaging Het
Adgrl2 T C 3: 148,596,124 (GRCm39) I71V probably damaging Het
Adgrv1 T C 13: 81,729,846 (GRCm39) T212A possibly damaging Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apaf1 A T 10: 90,896,027 (GRCm39) Y348* probably null Het
Apobr A G 7: 126,186,378 (GRCm39) T630A probably benign Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asic1 A T 15: 99,569,756 (GRCm39) T26S possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atrnl1 G A 19: 57,643,426 (GRCm39) G438D probably damaging Het
Bbc3 T C 7: 16,046,268 (GRCm39) V68A possibly damaging Het
Birc6 T C 17: 74,966,149 (GRCm39) probably benign Het
Btnl9 A G 11: 49,071,523 (GRCm39) F100S probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccpg1 A G 9: 72,920,440 (GRCm39) N685S probably damaging Het
Ces3b T A 8: 105,819,607 (GRCm39) probably null Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clhc1 A G 11: 29,507,663 (GRCm39) I126V probably benign Het
Crocc T C 4: 140,756,413 (GRCm39) I1071V probably benign Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Dnajc8 T C 4: 132,271,370 (GRCm39) S62P possibly damaging Het
Dpyd T C 3: 118,468,217 (GRCm39) V77A probably benign Het
Dram2 T A 3: 106,478,076 (GRCm39) M136K possibly damaging Het
Dtx2 T A 5: 136,040,894 (GRCm39) F100I probably damaging Het
Dync2h1 A T 9: 7,011,253 (GRCm39) W3654R probably damaging Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm6578 C A 6: 12,100,186 (GRCm39) noncoding transcript Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Gm9797 G T 10: 11,485,113 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,350,805 (GRCm39) probably null Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Isoc2b A T 7: 4,854,438 (GRCm39) I31N probably damaging Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lamc2 T A 1: 153,002,870 (GRCm39) D1037V probably damaging Het
Lhfpl2 A G 13: 94,328,557 (GRCm39) D206G possibly damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Mgat2 T C 12: 69,232,068 (GRCm39) F214S probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Niban2 A G 2: 32,813,659 (GRCm39) K624R probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or56a5 T A 7: 104,792,757 (GRCm39) I254F probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psph T A 5: 129,864,603 (GRCm39) probably null Het
Ptpro A G 6: 137,388,114 (GRCm39) probably null Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Qrich2 C T 11: 116,339,243 (GRCm39) probably benign Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf17 T C 14: 56,730,811 (GRCm39) V1205A probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Sgo2b T C 8: 64,380,181 (GRCm39) R884G probably benign Het
Slc10a5 G T 3: 10,400,278 (GRCm39) D127E probably benign Het
Slc25a35 T G 11: 68,859,791 (GRCm39) S101R possibly damaging Het
Slc6a13 T C 6: 121,302,000 (GRCm39) L194P possibly damaging Het
Snw1 T G 12: 87,499,473 (GRCm39) probably benign Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Srsf12 C T 4: 33,225,764 (GRCm39) probably benign Het
Ssxa1 T A X: 20,985,581 (GRCm39) probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tacr3 T C 3: 134,637,941 (GRCm39) V366A probably benign Het
Tasor T A 14: 27,168,345 (GRCm39) Y296N probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tkfc A G 19: 10,573,405 (GRCm39) I279T probably damaging Het
Tmem98 A G 11: 80,708,348 (GRCm39) E106G probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn T C 2: 76,572,861 (GRCm39) T24265A possibly damaging Het
Usp37 A G 1: 74,500,815 (GRCm39) V582A probably damaging Het
Vps13b T A 15: 35,671,546 (GRCm39) I1683N probably benign Het
Vps13d C T 4: 144,882,671 (GRCm39) R968H probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Vwf C T 6: 125,634,020 (GRCm39) T166I probably damaging Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp459 A T 13: 67,556,395 (GRCm39) H229Q probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zmynd19 T A 2: 24,842,648 (GRCm39) Y15* probably null 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
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
R5490:Kif5c UTSW 2 49,648,870 (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'- GGGAACTATGGATCTACTGCAG -3'
(R):5'- GTTTCAGAGTGTCAAGAGGGC -3'

Sequencing Primer
(F):5'- TTCCAGGGGATCTGACACACATTG -3'
(R):5'- GCAATGCCCCCAGGTAG -3'
Posted On 2014-09-17