Incidental Mutation 'R2115:Kifc3'
ID 233033
Institutional Source Beutler Lab
Gene Symbol Kifc3
Ensembl Gene ENSMUSG00000031788
Gene Name kinesin family member C3
Synonyms
MMRRC Submission 040119-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2115 (G1)
Quality Score 186
Status Validated
Chromosome 8
Chromosomal Location 95826456-95929440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95835341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 178 (Y178H)
Ref Sequence ENSEMBL: ENSMUSP00000148425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212424] [ENSMUST00000212787] [ENSMUST00000213004]
AlphaFold O35231
Predicted Effect probably damaging
Transcript: ENSMUST00000034240
AA Change: Y315H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: Y315H

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 possibly damaging
Transcript: ENSMUST00000169353
AA Change: Y200H

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: Y200H

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 damaging
Transcript: ENSMUST00000169748
AA Change: Y279H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: Y279H

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 noncoding transcript
Transcript: ENSMUST00000212682
Predicted Effect probably damaging
Transcript: ENSMUST00000212787
AA Change: Y178H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213004
AA Change: Y178H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1345 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,562 (GRCm39) T1195A probably benign Het
Abca12 A T 1: 71,283,930 (GRCm39) N2547K probably benign Het
Abca16 A C 7: 120,139,868 (GRCm39) E1510A probably damaging Het
Adam5 A G 8: 25,234,161 (GRCm39) probably benign Het
Akna G A 4: 63,313,397 (GRCm39) P242L probably benign Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Ankhd1 T A 18: 36,767,361 (GRCm39) S1167T probably damaging Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Ark2n T C 18: 77,762,168 (GRCm39) D48G possibly damaging Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Atxn1l C T 8: 110,459,240 (GRCm39) A341T probably benign Het
Birc7 C A 2: 180,572,642 (GRCm39) Q138K possibly damaging Het
Blvra G T 2: 126,927,989 (GRCm39) E80* probably null Het
Ccdc148 T C 2: 58,892,128 (GRCm39) E188G probably damaging Het
Chad C T 11: 94,459,052 (GRCm39) A318V probably benign Het
Cntfr A G 4: 41,663,534 (GRCm39) probably null Het
Dnah17 C T 11: 118,010,628 (GRCm39) C230Y probably benign Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Dusp11 T C 6: 85,935,651 (GRCm39) D74G probably damaging Het
Duxf4 T C 10: 58,072,073 (GRCm39) D47G possibly damaging Het
Eif3m T C 2: 104,837,141 (GRCm39) T61A probably damaging Het
Esyt1 T A 10: 128,357,973 (GRCm39) D212V probably damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
F13a1 A T 13: 37,172,831 (GRCm39) I183N probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fam83h A T 15: 75,874,146 (GRCm39) Y1064N probably damaging Het
Flrt3 G T 2: 140,503,423 (GRCm39) N68K probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm1527 T C 3: 28,972,098 (GRCm39) L405P probably benign Het
Heatr6 T A 11: 83,648,281 (GRCm39) probably benign Het
Herc2 T C 7: 55,835,576 (GRCm39) probably benign Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kat7 C T 11: 95,194,120 (GRCm39) R60Q probably benign Het
Katnal2 T C 18: 77,067,787 (GRCm39) R385G probably damaging Het
Kcnt2 G T 1: 140,480,701 (GRCm39) L755F probably damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
Krit1 A T 5: 3,872,108 (GRCm39) R378* probably null Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lama3 C A 18: 12,535,906 (GRCm39) T204N possibly damaging Het
Lama5 A G 2: 179,828,678 (GRCm39) C2090R probably damaging Het
Mb G T 15: 76,906,759 (GRCm39) Q9K probably benign Het
Mipep T C 14: 61,024,829 (GRCm39) V90A probably damaging Het
Myo3a A T 2: 22,250,342 (GRCm39) I70F probably damaging Het
Napa A G 7: 15,848,134 (GRCm39) D217G possibly damaging Het
Nectin2 T C 7: 19,451,489 (GRCm39) D515G probably damaging Het
Nkx2-6 T A 14: 69,409,288 (GRCm39) V13E probably damaging Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nptx2 G C 5: 144,492,216 (GRCm39) G331A probably damaging Het
Or2q1 A G 6: 42,794,431 (GRCm39) T9A possibly damaging Het
Or4c122 T C 2: 89,079,874 (GRCm39) I55V probably damaging Het
Or5h17 T C 16: 58,820,783 (GRCm39) L245P possibly damaging Het
Or7g34 T C 9: 19,478,618 (GRCm39) T18A probably benign Het
Parp14 T C 16: 35,678,904 (GRCm39) T355A probably benign Het
Pcdh12 T C 18: 38,417,039 (GRCm39) T29A probably damaging Het
Pced1b T A 15: 97,282,505 (GRCm39) C181* probably null Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pick1 T A 15: 79,139,781 (GRCm39) probably benign Het
Pitrm1 A T 13: 6,607,809 (GRCm39) Y268F probably damaging Het
Polr2h T C 16: 20,537,737 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,597,972 (GRCm39) K178N probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpra G T 2: 130,381,655 (GRCm39) R372L probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Qrich2 A G 11: 116,337,982 (GRCm39) V1887A probably damaging Het
Ralgapa1 T C 12: 55,833,134 (GRCm39) probably null Het
Rassf9 A G 10: 102,380,806 (GRCm39) T63A probably benign Het
Rdh11 G T 12: 79,222,996 (GRCm39) Q292K probably benign Het
Rere C A 4: 150,697,018 (GRCm39) probably benign Het
Rgs18 G T 1: 144,629,629 (GRCm39) T210K possibly damaging Het
Rnf213 A G 11: 119,318,839 (GRCm39) N1099S probably benign Het
Ros1 T C 10: 52,004,651 (GRCm39) I969V probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Rrp12 C T 19: 41,879,533 (GRCm39) V174I probably benign Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Sbk3 A G 7: 4,970,415 (GRCm39) L318S possibly damaging Het
Scn9a T C 2: 66,314,396 (GRCm39) E1774G probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Sec23ip G A 7: 128,364,185 (GRCm39) V488I probably benign Het
Serpine3 T C 14: 62,910,459 (GRCm39) L184P probably damaging Het
Slc26a2 T C 18: 61,331,896 (GRCm39) T512A possibly damaging Het
Slc49a4 T C 16: 35,518,309 (GRCm39) D468G probably benign Het
Smpd4 T C 16: 17,444,729 (GRCm39) Y118H probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Ttc33 G A 15: 5,241,534 (GRCm39) V120I probably benign Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Utp20 T C 10: 88,621,865 (GRCm39) D1136G probably benign Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Yars1 T G 4: 129,101,716 (GRCm39) probably null Het
Zfp472 A G 17: 33,196,988 (GRCm39) I354M possibly damaging Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A probably damaging Het
Other mutations in Kifc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Kifc3 APN 8 95,864,644 (GRCm39) missense probably damaging 1.00
IGL01904:Kifc3 APN 8 95,864,585 (GRCm39) missense possibly damaging 0.81
IGL02019:Kifc3 APN 8 95,834,168 (GRCm39) splice site probably benign
IGL02090:Kifc3 APN 8 95,829,108 (GRCm39) missense probably damaging 1.00
IGL02355:Kifc3 APN 8 95,836,507 (GRCm39) missense probably damaging 1.00
IGL02362:Kifc3 APN 8 95,836,507 (GRCm39) missense probably damaging 1.00
IGL02620:Kifc3 APN 8 95,836,582 (GRCm39) missense probably damaging 0.98
IGL02720:Kifc3 APN 8 95,834,993 (GRCm39) missense probably benign 0.00
IGL03030:Kifc3 APN 8 95,829,040 (GRCm39) missense probably damaging 1.00
IGL03327:Kifc3 APN 8 95,835,060 (GRCm39) missense probably damaging 1.00
IGL03390:Kifc3 APN 8 95,835,241 (GRCm39) missense probably damaging 1.00
R0233:Kifc3 UTSW 8 95,828,100 (GRCm39) splice site probably null
R0281:Kifc3 UTSW 8 95,830,088 (GRCm39) missense probably damaging 1.00
R0302:Kifc3 UTSW 8 95,830,098 (GRCm39) missense possibly damaging 0.50
R0619:Kifc3 UTSW 8 95,829,293 (GRCm39) missense probably benign 0.13
R0731:Kifc3 UTSW 8 95,832,361 (GRCm39) missense probably damaging 1.00
R1017:Kifc3 UTSW 8 95,832,413 (GRCm39) missense probably damaging 0.99
R1147:Kifc3 UTSW 8 95,864,546 (GRCm39) missense probably damaging 1.00
R1147:Kifc3 UTSW 8 95,864,546 (GRCm39) missense probably damaging 1.00
R1257:Kifc3 UTSW 8 95,832,400 (GRCm39) missense probably damaging 0.98
R1472:Kifc3 UTSW 8 95,864,541 (GRCm39) critical splice donor site probably null
R1480:Kifc3 UTSW 8 95,836,515 (GRCm39) missense probably damaging 1.00
R1553:Kifc3 UTSW 8 95,833,170 (GRCm39) missense possibly damaging 0.67
R2071:Kifc3 UTSW 8 95,834,981 (GRCm39) critical splice donor site probably null
R3703:Kifc3 UTSW 8 95,830,656 (GRCm39) splice site probably benign
R3704:Kifc3 UTSW 8 95,830,656 (GRCm39) splice site probably benign
R3705:Kifc3 UTSW 8 95,830,656 (GRCm39) splice site probably benign
R4223:Kifc3 UTSW 8 95,836,610 (GRCm39) missense probably damaging 0.96
R4463:Kifc3 UTSW 8 95,828,744 (GRCm39) missense probably damaging 1.00
R4508:Kifc3 UTSW 8 95,834,048 (GRCm39) splice site probably null
R4980:Kifc3 UTSW 8 95,853,177 (GRCm39) missense probably benign
R5032:Kifc3 UTSW 8 95,829,354 (GRCm39) missense probably damaging 1.00
R5068:Kifc3 UTSW 8 95,836,844 (GRCm39) missense possibly damaging 0.54
R5421:Kifc3 UTSW 8 95,836,473 (GRCm39) missense probably damaging 0.99
R5556:Kifc3 UTSW 8 95,835,087 (GRCm39) nonsense probably null
R6845:Kifc3 UTSW 8 95,835,307 (GRCm39) missense probably benign 0.28
R7136:Kifc3 UTSW 8 95,830,077 (GRCm39) missense probably benign 0.10
R7196:Kifc3 UTSW 8 95,833,239 (GRCm39) missense probably benign 0.02
R7404:Kifc3 UTSW 8 95,830,092 (GRCm39) missense probably benign 0.02
R7441:Kifc3 UTSW 8 95,864,615 (GRCm39) missense probably benign 0.00
R7784:Kifc3 UTSW 8 95,837,320 (GRCm39) critical splice donor site probably null
R7861:Kifc3 UTSW 8 95,834,165 (GRCm39) critical splice acceptor site probably null
R8440:Kifc3 UTSW 8 95,836,422 (GRCm39) missense possibly damaging 0.89
R8754:Kifc3 UTSW 8 95,829,024 (GRCm39) missense probably damaging 1.00
R8983:Kifc3 UTSW 8 95,833,104 (GRCm39) missense probably damaging 1.00
R9035:Kifc3 UTSW 8 95,853,195 (GRCm39) missense possibly damaging 0.52
R9149:Kifc3 UTSW 8 95,853,317 (GRCm39) missense probably benign
R9464:Kifc3 UTSW 8 95,830,622 (GRCm39) missense possibly damaging 0.61
R9589:Kifc3 UTSW 8 95,861,372 (GRCm39) missense possibly damaging 0.87
X0023:Kifc3 UTSW 8 95,835,926 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACACCTAGTGGGGCAAAG -3'
(R):5'- ACGGGATGGTGATGGCTATAC -3'

Sequencing Primer
(F):5'- CCTAGTGGGGCAAAGGTGTTAG -3'
(R):5'- TGGTGATGGCTATACAGACTCAC -3'
Posted On 2014-09-18