Incidental Mutation 'IGL02720:Kifc3'
ID304963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kifc3
Ensembl Gene ENSMUSG00000031788
Gene Namekinesin family member C3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02720
Quality Score
Status
Chromosome8
Chromosomal Location95099828-95202812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95108365 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 264 (V264A)
Ref Sequence ENSEMBL: ENSMUSP00000148425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212424] [ENSMUST00000212787] [ENSMUST00000213004]
Predicted Effect probably benign
Transcript: ENSMUST00000034240
AA Change: V401A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: V401A

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
coiled coil region 100 360 N/A INTRINSIC
coiled coil region 393 430 N/A INTRINSIC
KISc 441 774 3.15e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169353
AA Change: V286A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: V286A

DomainStartEndE-ValueType
coiled coil region 33 223 N/A INTRINSIC
coiled coil region 256 293 N/A INTRINSIC
KISc 304 637 3.15e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169748
AA Change: V365A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: V365A

DomainStartEndE-ValueType
coiled coil region 34 324 N/A INTRINSIC
coiled coil region 357 394 N/A INTRINSIC
KISc 405 728 3.11e-148 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211854
Predicted Effect probably benign
Transcript: ENSMUST00000212424
Predicted Effect probably benign
Transcript: ENSMUST00000212787
Predicted Effect probably benign
Transcript: ENSMUST00000213004
AA Change: V264A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for this targeted mutation are viable, fertile, and appear phenotypically indistinguishable from wild-type littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,122,703 probably benign Het
Adgrv1 A G 13: 81,578,872 S454P probably damaging Het
Adh4 A T 3: 138,419,220 I51F possibly damaging Het
Amigo2 A T 15: 97,245,697 C281* probably null Het
Btn2a2 C T 13: 23,480,467 R307Q probably benign Het
C2cd6 T C 1: 59,051,148 I483M probably damaging Het
Capn9 T C 8: 124,600,497 probably benign Het
Carmil3 A G 14: 55,507,410 K1279E probably damaging Het
Cdadc1 T C 14: 59,586,047 Y332C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep112 T G 11: 108,859,351 F893L probably damaging Het
Cit A G 5: 115,995,452 S1867G probably benign Het
Clptm1l T C 13: 73,614,602 probably benign Het
Cyp4a12b A T 4: 115,435,171 probably benign Het
Dlx3 G T 11: 95,123,644 W251L possibly damaging Het
Dnah1 C T 14: 31,262,220 V3993M probably damaging Het
Efs A T 14: 54,919,715 Y380N probably damaging Het
Fam53c T A 18: 34,770,667 W331R probably damaging Het
Gm5414 T C 15: 101,625,555 E331G probably damaging Het
Gstcd A G 3: 133,071,961 V363A probably benign Het
Jak1 A G 4: 101,164,450 probably benign Het
Mapk8ip2 A G 15: 89,457,582 D332G probably damaging Het
Nbeal1 G A 1: 60,283,987 E2075K probably damaging Het
Olfr553 C T 7: 102,614,839 G50E probably damaging Het
Opn5 T G 17: 42,596,626 S120R probably damaging Het
Paqr8 C T 1: 20,935,509 Q296* probably null Het
Pcsk6 C T 7: 65,980,247 R374* probably null Het
Pld1 A G 3: 28,087,262 H469R probably damaging Het
Rbl1 A G 2: 157,199,429 S93P possibly damaging Het
Reln C T 5: 21,997,941 R1287Q probably damaging Het
Rev3l C T 10: 39,822,395 R963* probably null Het
Serinc4 C T 2: 121,452,427 S418N probably benign Het
Slc6a18 A G 13: 73,669,968 M310T probably benign Het
Slitrk3 T A 3: 73,050,768 S224C probably damaging Het
Slu7 T C 11: 43,445,203 I471T probably benign Het
Stxbp5 A G 10: 9,789,361 probably null Het
Tm7sf3 A T 6: 146,613,374 probably benign Het
Trem1 C T 17: 48,232,841 S16L probably benign Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Trp63 A T 16: 25,863,741 D184V probably damaging Het
Ttll6 T C 11: 96,152,073 probably null Het
Usp32 A G 11: 85,006,991 probably null Het
Vmn2r14 A T 5: 109,221,439 N89K probably damaging Het
Vmn2r76 T C 7: 86,225,706 R688G probably benign Het
Vmn2r93 A T 17: 18,305,034 H318L probably damaging Het
Vstm4 A G 14: 32,863,617 H47R probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Ybx2 T A 11: 69,940,331 S56T probably benign Het
Ybx2 C A 11: 69,940,332 S251Y probably benign Het
Zbtb3 T C 19: 8,804,214 probably null Het
Other mutations in Kifc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Kifc3 APN 8 95138016 missense probably damaging 1.00
IGL01904:Kifc3 APN 8 95137957 missense possibly damaging 0.81
IGL02019:Kifc3 APN 8 95107540 splice site probably benign
IGL02090:Kifc3 APN 8 95102480 missense probably damaging 1.00
IGL02355:Kifc3 APN 8 95109879 missense probably damaging 1.00
IGL02362:Kifc3 APN 8 95109879 missense probably damaging 1.00
IGL02620:Kifc3 APN 8 95109954 missense probably damaging 0.98
IGL03030:Kifc3 APN 8 95102412 missense probably damaging 1.00
IGL03327:Kifc3 APN 8 95108432 missense probably damaging 1.00
IGL03390:Kifc3 APN 8 95108613 missense probably damaging 1.00
R0233:Kifc3 UTSW 8 95101472 unclassified probably null
R0281:Kifc3 UTSW 8 95103460 missense probably damaging 1.00
R0302:Kifc3 UTSW 8 95103470 missense possibly damaging 0.50
R0619:Kifc3 UTSW 8 95102665 missense probably benign 0.13
R0731:Kifc3 UTSW 8 95105733 missense probably damaging 1.00
R1017:Kifc3 UTSW 8 95105785 missense probably damaging 0.99
R1147:Kifc3 UTSW 8 95137918 missense probably damaging 1.00
R1147:Kifc3 UTSW 8 95137918 missense probably damaging 1.00
R1257:Kifc3 UTSW 8 95105772 missense probably damaging 0.98
R1472:Kifc3 UTSW 8 95137913 critical splice donor site probably null
R1480:Kifc3 UTSW 8 95109887 missense probably damaging 1.00
R1553:Kifc3 UTSW 8 95106542 missense possibly damaging 0.67
R2071:Kifc3 UTSW 8 95108353 critical splice donor site probably null
R2115:Kifc3 UTSW 8 95108713 missense probably damaging 1.00
R3703:Kifc3 UTSW 8 95104028 splice site probably benign
R3704:Kifc3 UTSW 8 95104028 splice site probably benign
R3705:Kifc3 UTSW 8 95104028 splice site probably benign
R4223:Kifc3 UTSW 8 95109982 missense probably damaging 0.96
R4463:Kifc3 UTSW 8 95102116 missense probably damaging 1.00
R4508:Kifc3 UTSW 8 95107420 splice site probably null
R4980:Kifc3 UTSW 8 95126549 missense probably benign
R5032:Kifc3 UTSW 8 95102726 missense probably damaging 1.00
R5068:Kifc3 UTSW 8 95110216 missense possibly damaging 0.54
R5421:Kifc3 UTSW 8 95109845 missense probably damaging 0.99
R5556:Kifc3 UTSW 8 95108459 nonsense probably null
R6845:Kifc3 UTSW 8 95108679 missense probably benign 0.28
R7136:Kifc3 UTSW 8 95103449 missense probably benign 0.10
R7196:Kifc3 UTSW 8 95106611 missense probably benign 0.02
R7404:Kifc3 UTSW 8 95103464 missense probably benign 0.02
X0023:Kifc3 UTSW 8 95109298 missense probably benign 0.00
Posted On2015-04-16