Incidental Mutation 'IGL00775:Kif1c'
ID12696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif1c
Ensembl Gene ENSMUSG00000020821
Gene Namekinesin family member 1C
SynonymsB430105J22Rik, D11Bwg1349e, Orch3, N-3 kinsin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00775
Quality Score
Status
Chromosome11
Chromosomal Location70700548-70731964 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 70724134 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072187] [ENSMUST00000094499] [ENSMUST00000102554] [ENSMUST00000102554] [ENSMUST00000137119]
Predicted Effect probably null
Transcript: ENSMUST00000072187
SMART Domains Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821

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 null
Transcript: ENSMUST00000094499
SMART Domains Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821

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 null
Transcript: ENSMUST00000102554
SMART Domains Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821

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 null
Transcript: ENSMUST00000102554
SMART Domains Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821

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 null
Transcript: ENSMUST00000137119
SMART Domains Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821

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
Coding Region Coverage
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik T C 5: 98,784,510 Y190H probably benign Het
Acsm1 A G 7: 119,658,301 N403S possibly damaging Het
Adam32 T C 8: 24,921,354 Y92C probably damaging Het
Ankfy1 G A 11: 72,728,772 G157D probably benign Het
Champ1 T C 8: 13,879,509 S556P probably damaging Het
Dnah8 T G 17: 30,767,906 Y3176* probably null Het
Gbp8 T C 5: 105,017,845 N314S probably damaging Het
Pcdhb22 T C 18: 37,519,742 V421A probably benign Het
Plag1 A G 4: 3,904,055 S379P probably damaging Het
Skint11 A T 4: 114,194,692 D79V probably damaging Het
Tdp2 A G 13: 24,840,538 T273A probably damaging Het
Utrn A G 10: 12,745,230 probably null Het
Zscan21 C A 5: 138,133,048 S99* probably null Het
Other mutations in Kif1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Kif1c APN 11 70705253 missense probably benign 0.25
IGL00849:Kif1c APN 11 70706127 missense probably damaging 1.00
IGL01988:Kif1c APN 11 70704936 missense probably damaging 1.00
IGL02683:Kif1c APN 11 70726452 missense possibly damaging 0.85
IGL03024:Kif1c APN 11 70705189 missense probably damaging 1.00
R0570:Kif1c UTSW 11 70704465 missense probably damaging 0.96
R0647:Kif1c UTSW 11 70726141 missense probably damaging 1.00
R0710:Kif1c UTSW 11 70726497 missense probably benign
R1112:Kif1c UTSW 11 70724815 splice site probably null
R1199:Kif1c UTSW 11 70708601 missense possibly damaging 0.69
R1514:Kif1c UTSW 11 70705729 missense probably damaging 1.00
R1660:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1661:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1666:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1669:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1707:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1708:Kif1c UTSW 11 70728397 missense probably damaging 0.99
R1835:Kif1c UTSW 11 70708971 missense probably damaging 0.99
R1861:Kif1c UTSW 11 70703342 missense probably damaging 1.00
R2870:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2870:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2871:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2871:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2872:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2872:Kif1c UTSW 11 70724081 missense probably damaging 0.99
R2927:Kif1c UTSW 11 70726314 missense probably benign
R3720:Kif1c UTSW 11 70703771 missense possibly damaging 0.94
R4809:Kif1c UTSW 11 70726357 missense probably benign 0.10
R4914:Kif1c UTSW 11 70708855 missense probably damaging 0.99
R5642:Kif1c UTSW 11 70708447 missense probably benign 0.14
R5788:Kif1c UTSW 11 70708828 missense probably damaging 1.00
R5861:Kif1c UTSW 11 70703795 missense probably damaging 1.00
R6918:Kif1c UTSW 11 70706987 missense probably damaging 1.00
R7456:Kif1c UTSW 11 70728598 missense probably benign 0.00
R7857:Kif1c UTSW 11 70728277 missense probably benign
Z1177:Kif1c UTSW 11 70702893 missense probably damaging 1.00
Z1186:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1187:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1188:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1189:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1190:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1191:Kif1c UTSW 11 70724114 missense probably benign 0.25
Z1192:Kif1c UTSW 11 70724114 missense probably benign 0.25
Posted On2012-12-06