Incidental Mutation 'R1666:Kif1c'
ID 187211
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 039702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1666 (G1)
Quality Score 224
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: 96.7%
  • 20x: 93.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 G A 15: 101,035,458 (GRCm39) R328H probably damaging Het
Afp T C 5: 90,652,927 (GRCm39) S466P probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Asic1 A G 15: 99,597,006 (GRCm39) D556G probably damaging Het
Atp2a3 T A 11: 72,869,633 (GRCm39) probably null Het
Brinp2 C A 1: 158,074,128 (GRCm39) E664D probably damaging Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Cd209f G A 8: 4,154,862 (GRCm39) Q79* probably null Het
Chrna7 T C 7: 62,861,890 (GRCm39) Y54C possibly damaging Het
Clec1a T C 6: 129,413,967 (GRCm39) D40G probably benign Het
Col11a1 A G 3: 113,855,184 (GRCm39) E148G unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cpz A G 5: 35,665,460 (GRCm39) probably null Het
Cyfip1 T A 7: 55,521,646 (GRCm39) N13K probably damaging Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Deup1 A T 9: 15,486,487 (GRCm39) Y398N possibly damaging Het
Elapor1 A G 3: 108,377,313 (GRCm39) S434P probably benign Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Exo1 T C 1: 175,736,052 (GRCm39) I812T possibly damaging Het
Fbxl17 A T 17: 63,692,060 (GRCm39) probably null Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabra6 A G 11: 42,208,461 (GRCm39) S124P probably damaging Het
Gje1 C A 10: 14,592,551 (GRCm39) W77L possibly damaging Het
Glra1 A G 11: 55,465,225 (GRCm39) S23P probably damaging Het
Gm6811 T C 17: 21,314,529 (GRCm39) noncoding transcript Het
Greb1l T A 18: 10,501,080 (GRCm39) probably null Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Grm6 A T 11: 50,750,711 (GRCm39) I625F probably damaging Het
Guca1a A G 17: 47,711,167 (GRCm39) F60L probably damaging Het
Hectd1 T A 12: 51,800,607 (GRCm39) E2070D possibly damaging Het
Itga5 G A 15: 103,256,329 (GRCm39) T910I probably benign Het
Kctd10 A G 5: 114,507,051 (GRCm39) V142A probably benign Het
Lmtk3 A T 7: 45,443,588 (GRCm39) D757V probably benign Het
Lpcat1 T C 13: 73,658,242 (GRCm39) probably null Het
Lrrc30 A T 17: 67,939,200 (GRCm39) C127S probably benign Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Ntf3 T C 6: 126,079,401 (GRCm39) D35G possibly damaging Het
Or5g25 A T 2: 85,478,157 (GRCm39) C169* probably null Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp4 A T 14: 56,861,620 (GRCm39) K984N possibly damaging Het
Pdgfra G A 5: 75,349,681 (GRCm39) G892D possibly damaging Het
Pik3c2g A T 6: 139,612,634 (GRCm39) probably benign Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Pramel7 G A 2: 87,322,747 (GRCm39) P6S probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Ptgs2 A G 1: 149,977,021 (GRCm39) Y44C probably damaging Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rbm6 G A 9: 107,669,055 (GRCm39) T619I probably benign Het
Rp1 A G 1: 4,420,086 (GRCm39) I342T probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Sema5b C T 16: 35,478,852 (GRCm39) P559S probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Slc35f3 T A 8: 127,115,960 (GRCm39) S296T probably damaging Het
Slco1a8 T A 6: 141,927,775 (GRCm39) probably null Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spdya T A 17: 71,885,235 (GRCm39) C230S probably damaging Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Tapbpl A G 6: 125,207,164 (GRCm39) V175A probably benign Het
Tmt1a3 A G 15: 100,233,099 (GRCm39) I97V probably benign Het
Ttn T C 2: 76,642,095 (GRCm39) T13373A probably damaging Het
Tubb5 A T 17: 36,147,530 (GRCm39) N52K probably benign Het
Tyr T A 7: 87,142,149 (GRCm39) Y137F probably damaging Het
Unc45b T A 11: 82,808,565 (GRCm39) I217N probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Washc2 T A 6: 116,200,215 (GRCm39) probably null Het
Zfp566 A T 7: 29,777,901 (GRCm39) H93Q probably benign Het
Zfp740 A G 15: 102,116,753 (GRCm39) D56G probably damaging Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zmiz2 T G 11: 6,346,836 (GRCm39) S148R probably benign Het
Zmym6 T A 4: 127,016,652 (GRCm39) I719N probably damaging Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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
R1708: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 2014-05-09