Incidental Mutation 'R4463:Kifc3'
ID 330227
Institutional Source Beutler Lab
Gene Symbol Kifc3
Ensembl Gene ENSMUSG00000031788
Gene Name kinesin family member C3
Synonyms
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4463 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95826456-95929440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95828744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 638 (T638A)
Ref Sequence ENSEMBL: ENSMUSP00000127427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000213004] [ENSMUST00000212968]
AlphaFold O35231
Predicted Effect probably benign
Transcript: ENSMUST00000034239
SMART Domains Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787

DomainStartEndE-ValueType
WD40 9 49 2.61e-3 SMART
WD40 52 91 2.45e-8 SMART
WD40 94 133 3.58e-10 SMART
WD40 136 175 7.49e-13 SMART
WD40 178 217 5.14e-11 SMART
WD40 220 258 1.14e-3 SMART
low complexity region 354 373 N/A INTRINSIC
low complexity region 396 412 N/A INTRINSIC
Pfam:Katanin_con80 496 654 8.2e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000034240
AA Change: T753A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: T753A

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 damaging
Transcript: ENSMUST00000169353
AA Change: T638A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: T638A

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: T707A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788
AA Change: T707A

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 noncoding transcript
Transcript: ENSMUST00000212565
Predicted Effect probably damaging
Transcript: ENSMUST00000213004
AA Change: T616A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000212968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212656
Meta Mutation Damage Score 0.8919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
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
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Phka1 A G X: 101,588,990 (GRCm39) V818A probably benign Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G 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
R2115:Kifc3 UTSW 8 95,835,341 (GRCm39) missense probably damaging 1.00
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
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'- TACCAGCCTGAGTCTCACTC -3'
(R):5'- TGGTGACAGCAAGACCCTTATG -3'

Sequencing Primer
(F):5'- GAGTCTCACTCATGGAAGCCTC -3'
(R):5'- CCTGAGGTTCAGCAAGAGC -3'
Posted On 2015-07-21