Incidental Mutation 'IGL03327:Kifc3'
ID416702
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 #IGL03327
Quality Score
Status
Chromosome8
Chromosomal Location95099828-95202812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 95108432 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 242 (D242N)
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: D379N

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: D379N

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: D264N

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: D264N

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: D343N

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: D343N

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 damaging
Transcript: ENSMUST00000213004
AA Change: D242N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,761,670 N79S probably damaging Het
Adcy8 T C 15: 64,920,267 Y280C probably damaging Het
Anapc1 T C 2: 128,623,934 T1647A probably benign Het
Ano3 T C 2: 110,697,178 I562V possibly damaging Het
Ash1l C T 3: 89,023,083 P1956S probably benign Het
Cd160 C T 3: 96,805,533 probably null Het
Chd3 G T 11: 69,350,186 A1527E probably damaging Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cntnap3 G A 13: 64,887,768 Q44* probably null Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Col6a6 T C 9: 105,767,234 D1285G possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Dcaf1 T C 9: 106,858,624 S924P possibly damaging Het
Eif5b T C 1: 38,041,691 probably benign Het
Fat1 A C 8: 44,950,468 K85N probably damaging Het
Fnip2 T C 3: 79,518,081 E69G probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Galc A G 12: 98,207,476 probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Hmmr A G 11: 40,715,415 C243R probably damaging Het
Il25 T C 14: 54,935,360 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Lig1 T G 7: 13,303,855 I677S probably damaging Het
Lrig1 G T 6: 94,606,123 A1004E probably benign Het
Nras A G 3: 103,059,024 T35A probably damaging Het
Nt5c1b C T 12: 10,374,861 Q136* probably null Het
Olfr1046 C T 2: 86,217,274 W145* probably null Het
Olfr1278 A T 2: 111,292,462 N65Y probably damaging Het
Olfr815 T G 10: 129,902,582 I43L possibly damaging Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Plpp2 T C 10: 79,530,984 probably null Het
Ptpre G A 7: 135,672,822 probably null Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Sh3bp4 C A 1: 89,144,163 Y244* probably null Het
Trip11 A T 12: 101,883,418 N1462K possibly damaging Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Virma A G 4: 11,518,984 T694A probably benign Het
Wdr35 T C 12: 8,978,694 probably benign Het
Xdh T C 17: 73,916,792 E535G probably benign 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
IGL02720:Kifc3 APN 8 95108365 missense probably benign 0.00
IGL03030:Kifc3 APN 8 95102412 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
R7441:Kifc3 UTSW 8 95137987 missense probably benign 0.00
R7784:Kifc3 UTSW 8 95110692 critical splice donor site probably null
X0023:Kifc3 UTSW 8 95109298 missense probably benign 0.00
Posted On2016-08-02