Incidental Mutation 'R8983:Kifc3'
ID 683827
Institutional Source Beutler Lab
Gene Symbol Kifc3
Ensembl Gene ENSMUSG00000031788
Gene Name kinesin family member C3
Synonyms
MMRRC Submission 068816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8983 (G1)
Quality Score 223.009
Status Validated
Chromosome 8
Chromosomal Location 95826456-95929440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95833104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 498 (A498V)
Ref Sequence ENSEMBL: ENSMUSP00000034240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212424] [ENSMUST00000212787] [ENSMUST00000212968] [ENSMUST00000213004]
AlphaFold O35231
Predicted Effect probably damaging
Transcript: ENSMUST00000034240
AA Change: A498V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788
AA Change: A498V

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
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788
AA Change: A383V

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
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788

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 probably benign
Transcript: ENSMUST00000212424
Predicted Effect probably benign
Transcript: ENSMUST00000212787
Predicted Effect probably benign
Transcript: ENSMUST00000212968
Predicted Effect probably damaging
Transcript: ENSMUST00000213004
AA Change: A361V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,313,272 (GRCm39) F632I unknown Het
5730522E02Rik T C 11: 25,719,069 (GRCm39) T26A unknown Het
Ablim1 A T 19: 57,227,644 (GRCm39) V7E probably benign Het
Adcy5 T G 16: 34,977,232 (GRCm39) L255R possibly damaging Het
Ahnak C A 19: 8,981,477 (GRCm39) N920K possibly damaging Het
Arhgef11 A G 3: 87,640,508 (GRCm39) K1251E Het
Astn1 T A 1: 158,491,700 (GRCm39) probably null Het
Atxn2 A G 5: 121,916,063 (GRCm39) Y423C probably damaging Het
Ccdc180 T A 4: 45,909,359 (GRCm39) V509D possibly damaging Het
Ccdc80 T C 16: 44,924,780 (GRCm39) V638A possibly damaging Het
Ccr6 T G 17: 8,474,878 (GRCm39) C28G probably damaging Het
Cdca7l A G 12: 117,828,902 (GRCm39) probably benign Het
Cnot3 T C 7: 3,654,328 (GRCm39) I52T probably damaging Het
Cped1 A T 6: 22,138,686 (GRCm39) N555I probably benign Het
Cpne6 A T 14: 55,753,711 (GRCm39) I390F probably damaging Het
Dlec1 A G 9: 118,957,419 (GRCm39) D836G probably benign Het
Dnah8 T A 17: 31,070,628 (GRCm39) V4438D probably damaging Het
Dok3 G T 13: 55,671,535 (GRCm39) N345K probably damaging Het
Eea1 C T 10: 95,855,741 (GRCm39) Q593* probably null Het
Eif3m T C 2: 104,830,139 (GRCm39) Y351C possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Epn3 T C 11: 94,386,914 (GRCm39) E152G probably damaging Het
Faf2 A G 13: 54,769,726 (GRCm39) S25G probably benign Het
Fam83b A G 9: 76,400,357 (GRCm39) S249P probably damaging Het
Fgl1 A T 8: 41,653,496 (GRCm39) S132R probably benign Het
Frem3 A G 8: 81,395,875 (GRCm39) E1890G probably damaging Het
Gpc5 T A 14: 115,330,118 (GRCm39) S94T unknown Het
Hectd1 A G 12: 51,791,410 (GRCm39) V2584A probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Loricrin T C 3: 91,988,446 (GRCm39) Y280C unknown Het
Lpin2 C T 17: 71,553,962 (GRCm39) A931V unknown Het
Lpxn A G 19: 12,810,522 (GRCm39) H322R probably damaging Het
Megf9 A G 4: 70,353,634 (GRCm39) S391P probably benign Het
Mipep G A 14: 61,080,702 (GRCm39) V565I probably benign Het
Mmrn1 C T 6: 60,953,042 (GRCm39) T441I probably benign Het
Mrpl48 T C 7: 100,223,702 (GRCm39) N14S probably benign Het
Ncald A G 15: 37,397,512 (GRCm39) F56S probably damaging Het
Or9g3 T C 2: 85,584,251 (GRCm39) probably benign Het
Pals1 G A 12: 78,884,298 (GRCm39) D640N probably damaging Het
Plcd3 A G 11: 102,962,092 (GRCm39) V703A possibly damaging Het
Potefam1 A G 2: 111,030,701 (GRCm39) S403P probably benign Het
Prss59 A G 6: 40,897,934 (GRCm39) S250P possibly damaging Het
Qser1 T C 2: 104,617,702 (GRCm39) I947V probably benign Het
Rdx G A 9: 51,974,905 (GRCm39) A14T probably damaging Het
Rnf213 A G 11: 119,321,175 (GRCm39) D1211G Het
Sbpl T C 17: 24,172,253 (GRCm39) D222G unknown Het
Scn8a C A 15: 100,900,030 (GRCm39) T703K possibly damaging Het
Setbp1 A G 18: 78,902,459 (GRCm39) S403P probably benign Het
Sfmbt2 A G 2: 10,409,267 (GRCm39) S71G probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,775 (GRCm39) probably benign Het
Smco3 C T 6: 136,808,730 (GRCm39) G48D possibly damaging Het
Spag9 T C 11: 93,958,815 (GRCm39) S280P probably benign Het
Thada T C 17: 84,538,515 (GRCm39) T1498A probably benign Het
Tmprss7 T C 16: 45,481,263 (GRCm39) D641G probably damaging Het
Top6bl T C 19: 4,695,714 (GRCm39) I513V possibly damaging Het
Trim43a A G 9: 88,464,404 (GRCm39) D105G probably benign Het
Utp14b T A 1: 78,643,003 (GRCm39) N300K probably benign Het
Vmn2r83 T G 10: 79,327,360 (GRCm39) I656S probably damaging Het
Zfp646 A T 7: 127,480,777 (GRCm39) M985L probably benign Het
Zfp777 A T 6: 48,006,158 (GRCm39) L412Q 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
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
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'- AGACTAGAGTCCCTGGGTAAG -3'
(R):5'- AAACATCCGGGTGATTGCCC -3'

Sequencing Primer
(F):5'- GTGTGGAGCTCCTTCCCTAAG -3'
(R):5'- GGGTGATTGCCCGAGTC -3'
Posted On 2021-10-11