Incidental Mutation 'R1708:Kif1c'
ID 190244
Institutional Source Beutler Lab
Gene Symbol Kif1c
Ensembl Gene ENSMUSG00000020821
Gene Name kinesin family member 1C
Synonyms N-3 kinsin, B430105J22Rik, D11Bwg1349e, Orch3
MMRRC Submission 039741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1708 (G1)
Quality Score 162
Status Not validated
Chromosome 11
Chromosomal Location 70591374-70622790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70619223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 953 (L953F)
Ref Sequence ENSEMBL: ENSMUSP00000072048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072187] [ENSMUST00000094499] [ENSMUST00000102554] [ENSMUST00000137119]
AlphaFold O35071
Predicted Effect probably damaging
Transcript: ENSMUST00000072187
AA Change: L953F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: L953F

DomainStartEndE-ValueType
KISc 3 356 6.18e-175 SMART
low complexity region 402 418 N/A INTRINSIC
FHA 522 575 1.45e-2 SMART
low complexity region 607 622 N/A INTRINSIC
coiled coil region 634 673 N/A INTRINSIC
coiled coil region 842 883 N/A INTRINSIC
low complexity region 955 975 N/A INTRINSIC
low complexity region 1009 1055 N/A INTRINSIC
low complexity region 1072 1100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094499
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: L941F

DomainStartEndE-ValueType
KISc 3 356 6.18e-175 SMART
low complexity region 402 418 N/A INTRINSIC
FHA 522 575 1.45e-2 SMART
low complexity region 607 622 N/A INTRINSIC
coiled coil region 634 671 N/A INTRINSIC
coiled coil region 830 871 N/A INTRINSIC
low complexity region 943 963 N/A INTRINSIC
low complexity region 997 1043 N/A INTRINSIC
low complexity region 1060 1088 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102554
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: L941F

DomainStartEndE-ValueType
KISc 3 356 6.18e-175 SMART
low complexity region 402 418 N/A INTRINSIC
FHA 522 575 1.45e-2 SMART
low complexity region 607 622 N/A INTRINSIC
coiled coil region 634 671 N/A INTRINSIC
coiled coil region 830 871 N/A INTRINSIC
low complexity region 943 963 N/A INTRINSIC
low complexity region 997 1043 N/A INTRINSIC
low complexity region 1060 1088 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137119
AA Change: L941F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: L941F

DomainStartEndE-ValueType
KISc 3 356 6.18e-175 SMART
low complexity region 402 418 N/A INTRINSIC
FHA 522 575 1.45e-2 SMART
low complexity region 607 622 N/A INTRINSIC
coiled coil region 634 671 N/A INTRINSIC
coiled coil region 830 871 N/A INTRINSIC
low complexity region 943 963 N/A INTRINSIC
low complexity region 997 1043 N/A INTRINSIC
low complexity region 1060 1088 N/A INTRINSIC
Meta Mutation Damage Score 0.0682 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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 member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,941,732 (GRCm39) I4F probably benign Het
Aadacl4fm1 T C 4: 144,246,511 (GRCm39) V19A probably benign Het
Abca8a A T 11: 109,943,928 (GRCm39) S1114T probably damaging Het
Adgre1 A T 17: 57,708,974 (GRCm39) Y55F possibly damaging Het
Alb A C 5: 90,611,910 (GRCm39) D113A possibly damaging Het
Ankrd33b C T 15: 31,305,155 (GRCm39) R203Q probably damaging Het
Aqp6 T C 15: 99,500,543 (GRCm39) V156A possibly damaging Het
AU018091 T C 7: 3,206,184 (GRCm39) S616G probably damaging Het
Cfd T A 10: 79,727,441 (GRCm39) D68E probably benign Het
Cntn2 C T 1: 132,446,936 (GRCm39) A725T probably damaging Het
Copg2 A C 6: 30,801,312 (GRCm39) D373E probably damaging Het
Cyp2d11 T C 15: 82,274,633 (GRCm39) T315A probably benign Het
Cyp2j13 G T 4: 95,950,304 (GRCm39) N232K probably damaging Het
Cyp2j8 A T 4: 96,387,832 (GRCm39) F210I probably damaging Het
Dnah9 G A 11: 65,805,980 (GRCm39) T3373M probably benign Het
Eif2ak3 A G 6: 70,864,790 (GRCm39) K549E probably damaging Het
Epha3 C T 16: 63,403,870 (GRCm39) V744I probably damaging Het
Erich6 T C 3: 58,523,868 (GRCm39) S669G probably benign Het
Fam90a1a A T 8: 22,451,464 (GRCm39) K108N probably damaging Het
Fat1 G A 8: 45,477,829 (GRCm39) V2292M probably damaging Het
Fibp T C 19: 5,513,822 (GRCm39) C255R probably null Het
Fzd1 A G 5: 4,805,791 (GRCm39) V597A possibly damaging Het
Gm12790 G A 4: 101,825,174 (GRCm39) A80V possibly damaging Het
Gm2381 A T 7: 42,469,649 (GRCm39) N158K probably benign Het
Impg2 T A 16: 56,085,441 (GRCm39) D940E probably benign Het
Ints1 A T 5: 139,748,594 (GRCm39) V1071E probably damaging Het
Kat5 A T 19: 5,659,507 (GRCm39) Y44* probably null Het
Klra6 A C 6: 129,999,677 (GRCm39) L97* probably null Het
Ly6c2 C T 15: 74,983,469 (GRCm39) probably null Het
Mon1a G A 9: 107,775,917 (GRCm39) E12K probably benign Het
Myo3b A T 2: 70,075,729 (GRCm39) K578* probably null Het
Myrip A T 9: 120,293,840 (GRCm39) R778S possibly damaging Het
Ncoa4-ps A G 12: 119,225,968 (GRCm39) noncoding transcript Het
Or2w4 C T 13: 21,795,240 (GRCm39) A300T probably damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
Or4c35 A G 2: 89,808,382 (GRCm39) R87G probably benign Het
Or52n4b T A 7: 108,143,781 (GRCm39) F14L probably benign Het
Or5b121 T C 19: 13,507,277 (GRCm39) V80A probably damaging Het
Panx3 T C 9: 37,572,687 (GRCm39) I288V probably benign Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pigc T A 1: 161,798,293 (GRCm39) S92T probably benign Het
Pou3f2 C A 4: 22,487,255 (GRCm39) V293L possibly damaging Het
Rbm15 A G 3: 107,238,536 (GRCm39) S621P probably damaging Het
Rnf220 T C 4: 117,347,083 (GRCm39) S110G probably benign Het
Rnf38 A T 4: 44,143,593 (GRCm39) V115D probably damaging Het
Rps6ka2 A G 17: 7,544,929 (GRCm39) H347R probably damaging Het
Ryr2 T C 13: 11,602,328 (GRCm39) probably null Het
Sema4f G T 6: 82,894,975 (GRCm39) P407T probably damaging Het
Setbp1 T C 18: 78,901,682 (GRCm39) T662A probably damaging Het
Slc27a1 C A 8: 72,037,274 (GRCm39) probably null Het
Slc41a2 T A 10: 83,069,596 (GRCm39) I519F probably damaging Het
Sntg2 C T 12: 30,423,179 (GRCm39) S17N possibly damaging Het
Sptb A G 12: 76,659,348 (GRCm39) L1184P probably damaging Het
Taf5l G A 8: 124,736,509 (GRCm39) Q21* probably null Het
Tbc1d32 A C 10: 56,027,865 (GRCm39) S746A possibly damaging Het
Tdrd1 T G 19: 56,830,721 (GRCm39) S251R probably benign Het
Thap7 C T 16: 17,346,814 (GRCm39) R121Q probably benign Het
Tmem50a A G 4: 134,625,779 (GRCm39) V146A probably benign Het
Tmprss15 T C 16: 78,850,958 (GRCm39) I327V possibly damaging Het
Tmt1a3 A G 15: 100,233,150 (GRCm39) N114D probably damaging Het
Ttc23 T C 7: 67,316,924 (GRCm39) I65T probably damaging Het
Vmn1r22 G T 6: 57,877,481 (GRCm39) H165Q possibly damaging Het
Vopp1 C T 6: 57,739,497 (GRCm39) R17H probably damaging Het
Vwa5a A G 9: 38,639,128 (GRCm39) K337E probably benign Het
Wrap53 G A 11: 69,454,761 (GRCm39) R203* probably null Het
Zfp944 T C 17: 22,558,026 (GRCm39) Y407C probably damaging Het
Other mutations in Kif1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Kif1c APN 11 70,614,960 (GRCm39) splice site probably null
IGL00817:Kif1c APN 11 70,596,079 (GRCm39) missense probably benign 0.25
IGL00849:Kif1c APN 11 70,596,953 (GRCm39) missense probably damaging 1.00
IGL01988:Kif1c APN 11 70,595,762 (GRCm39) missense probably damaging 1.00
IGL02683:Kif1c APN 11 70,617,278 (GRCm39) missense possibly damaging 0.85
IGL03024:Kif1c APN 11 70,596,015 (GRCm39) missense probably damaging 1.00
R0570:Kif1c UTSW 11 70,595,291 (GRCm39) missense probably damaging 0.96
R0647:Kif1c UTSW 11 70,616,967 (GRCm39) missense probably damaging 1.00
R0710:Kif1c UTSW 11 70,617,323 (GRCm39) missense probably benign
R1112:Kif1c UTSW 11 70,615,641 (GRCm39) splice site probably null
R1199:Kif1c UTSW 11 70,599,427 (GRCm39) missense possibly damaging 0.69
R1514:Kif1c UTSW 11 70,596,555 (GRCm39) missense probably damaging 1.00
R1660:Kif1c UTSW 11 70,619,223 (GRCm39) missense probably damaging 0.99
R1661:Kif1c UTSW 11 70,619,223 (GRCm39) missense probably damaging 0.99
R1666:Kif1c UTSW 11 70,619,223 (GRCm39) missense probably damaging 0.99
R1669:Kif1c UTSW 11 70,619,223 (GRCm39) missense probably damaging 0.99
R1707:Kif1c UTSW 11 70,619,223 (GRCm39) missense probably damaging 0.99
R1835:Kif1c UTSW 11 70,599,797 (GRCm39) missense probably damaging 0.99
R1861:Kif1c UTSW 11 70,594,168 (GRCm39) missense probably damaging 1.00
R2870:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2870:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2871:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2871:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2872:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2872:Kif1c UTSW 11 70,614,907 (GRCm39) missense probably damaging 0.99
R2927:Kif1c UTSW 11 70,617,140 (GRCm39) missense probably benign
R3720:Kif1c UTSW 11 70,594,597 (GRCm39) missense possibly damaging 0.94
R4809:Kif1c UTSW 11 70,617,183 (GRCm39) missense probably benign 0.10
R4914:Kif1c UTSW 11 70,599,681 (GRCm39) missense probably damaging 0.99
R5642:Kif1c UTSW 11 70,599,273 (GRCm39) missense probably benign 0.14
R5788:Kif1c UTSW 11 70,599,654 (GRCm39) missense probably damaging 1.00
R5861:Kif1c UTSW 11 70,594,621 (GRCm39) missense probably damaging 1.00
R6918:Kif1c UTSW 11 70,597,813 (GRCm39) missense probably damaging 1.00
R7456:Kif1c UTSW 11 70,619,424 (GRCm39) missense probably benign 0.00
R7857:Kif1c UTSW 11 70,619,103 (GRCm39) missense probably benign
R8841:Kif1c UTSW 11 70,615,659 (GRCm39) missense probably benign 0.02
R9004:Kif1c UTSW 11 70,615,958 (GRCm39) missense probably benign 0.30
R9117:Kif1c UTSW 11 70,595,798 (GRCm39) missense probably damaging 1.00
R9714:Kif1c UTSW 11 70,615,660 (GRCm39) missense probably benign 0.29
Z1177:Kif1c UTSW 11 70,593,719 (GRCm39) missense probably damaging 1.00
Z1186:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1187:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1188:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1189:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1190:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1191:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Z1192:Kif1c UTSW 11 70,614,940 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AATGACGAGTCTGGTTTGGTCACC -3'
(R):5'- AGTGGGCACCTTCCTCCTAACAAG -3'

Sequencing Primer
(F):5'- GCAGTAGAGGAGACAGTGCC -3'
(R):5'- ctgggctgggGCTGTTG -3'
Posted On 2014-05-14