Incidental Mutation 'R8884:Kif14'
ID 677142
Institutional Source Beutler Lab
Gene Symbol Kif14
Ensembl Gene ENSMUSG00000041498
Gene Name kinesin family member 14
Synonyms N-3 kinesin, D1Ertd367e
MMRRC Submission 068690-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R8884 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136394081-136459249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136414089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 722 (E722K)
Ref Sequence ENSEMBL: ENSMUSP00000139698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047817] [ENSMUST00000189413] [ENSMUST00000201676]
AlphaFold L0N7N1
PDB Structure Crystal structure of the mouse Kif14 motor domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000047817
AA Change: E672K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: E672K

DomainStartEndE-ValueType
KISc 341 694 1.45e-180 SMART
FHA 809 861 1.46e-7 SMART
coiled coil region 911 1060 N/A INTRINSIC
low complexity region 1169 1179 N/A INTRINSIC
low complexity region 1548 1559 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: E722K

DomainStartEndE-ValueType
low complexity region 278 290 N/A INTRINSIC
KISc 391 744 1.45e-180 SMART
FHA 859 911 1.46e-7 SMART
coiled coil region 961 1110 N/A INTRINSIC
low complexity region 1219 1229 N/A INTRINSIC
low complexity region 1598 1609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201676
SMART Domains Protein: ENSMUSP00000144265
Gene: ENSMUSG00000041498

DomainStartEndE-ValueType
low complexity region 278 290 N/A INTRINSIC
KISc 391 497 3.7e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (65/66)
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-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation or targeted allele exhibit severe brain malformations, neurological defects and hypomyelination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,354 (GRCm39) F168Y probably damaging Het
4932438H23Rik T C 16: 90,852,737 (GRCm39) Y133C probably damaging Het
Aasdh A G 5: 77,039,641 (GRCm39) S223P possibly damaging Het
Abca8a T C 11: 109,964,941 (GRCm39) D453G possibly damaging Het
Acsl6 T A 11: 54,236,728 (GRCm39) F541I probably damaging Het
Agfg1 A T 1: 82,860,110 (GRCm39) K326* probably null Het
Aldh1l2 T C 10: 83,344,541 (GRCm39) N448S probably benign Het
Alx4 A G 2: 93,473,355 (GRCm39) K118E possibly damaging Het
Atp9b T A 18: 80,838,562 (GRCm39) T451S Het
B4galt6 A T 18: 20,822,072 (GRCm39) N307K probably benign Het
Cacna1s G A 1: 136,042,981 (GRCm39) M1569I probably benign Het
Cacng6 C T 7: 3,478,984 (GRCm39) T121I probably damaging Het
Cdc5l C A 17: 45,744,467 (GRCm39) probably benign Het
Cdh20 A T 1: 110,027,860 (GRCm39) D535V probably damaging Het
Chrnb3 T C 8: 27,883,946 (GRCm39) F228L possibly damaging Het
Clca3a1 A T 3: 144,719,757 (GRCm39) D404E probably benign Het
Commd8 G A 5: 72,325,514 (GRCm39) probably benign Het
Cpn1 T A 19: 43,954,615 (GRCm39) Q337L possibly damaging Het
Dctn6 T C 8: 34,557,933 (GRCm39) T180A probably benign Het
Ddx60 A G 8: 62,447,553 (GRCm39) E1180G possibly damaging Het
Dock4 T A 12: 40,856,884 (GRCm39) L1239Q probably damaging Het
Dop1b T C 16: 93,556,550 (GRCm39) I469T probably benign Het
Enpep A T 3: 129,115,052 (GRCm39) I240N possibly damaging Het
Fat3 G A 9: 15,941,280 (GRCm39) T1337I probably damaging Het
Fbxw13 T A 9: 109,010,469 (GRCm39) M390L probably benign Het
Fgr C T 4: 132,713,609 (GRCm39) P46S probably benign Het
Galnt1 T A 18: 24,400,641 (GRCm39) M249K probably benign Het
Gm40460 A T 7: 141,794,555 (GRCm39) C87* probably null Het
Hcn4 C T 9: 58,760,705 (GRCm39) R417C unknown Het
Insr T C 8: 3,205,679 (GRCm39) N1370S probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Larp6 G A 9: 60,620,682 (GRCm39) G65E Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Muc16 G A 9: 18,555,496 (GRCm39) T3599I unknown Het
Muc5b T C 7: 141,403,156 (GRCm39) F706L unknown Het
Nbea A T 3: 55,712,720 (GRCm39) M2119K probably benign Het
Or13a18 C T 7: 140,190,616 (GRCm39) P171L probably damaging Het
Or13a24 A T 7: 140,154,224 (GRCm39) T53S probably benign Het
Paip1 G A 13: 119,574,553 (GRCm39) V83I probably damaging Het
Pdcd1lg2 G T 19: 29,423,318 (GRCm39) probably null Het
Pde7a G A 3: 19,281,858 (GRCm39) A464V probably benign Het
Pfkfb2 A G 1: 130,634,213 (GRCm39) F155L probably damaging Het
Pimreg A G 11: 71,936,513 (GRCm39) D192G possibly damaging Het
Prkd3 T C 17: 79,282,193 (GRCm39) D320G probably damaging Het
Rgs7 A G 1: 174,980,730 (GRCm39) V98A probably benign Het
Ric3 C T 7: 108,637,688 (GRCm39) G356D probably benign Het
Rsph4a T C 10: 33,781,840 (GRCm39) probably benign Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sez6l T C 5: 112,622,910 (GRCm39) T214A probably damaging Het
Sipa1l1 T G 12: 82,409,871 (GRCm39) V595G probably damaging Het
Spata31h1 T A 10: 82,119,486 (GRCm39) H4508L probably damaging Het
Spta1 G T 1: 174,045,254 (GRCm39) probably null Het
Ssbp2 A G 13: 91,836,989 (GRCm39) probably benign Het
Syne1 T G 10: 5,181,822 (GRCm39) Q4171P possibly damaging Het
Tgfb2 G A 1: 186,364,907 (GRCm39) T232I probably damaging Het
Tmem175 A G 5: 108,794,327 (GRCm39) S486G probably benign Het
Tmprss15 A G 16: 78,821,657 (GRCm39) V466A probably benign Het
Treh C G 9: 44,595,800 (GRCm39) probably benign Het
Ttc14 A G 3: 33,854,696 (GRCm39) S8G unknown Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Vmn1r44 T C 6: 89,870,458 (GRCm39) L68P probably damaging Het
Vmn2r37 T G 7: 9,218,916 (GRCm39) L489F probably benign Het
Vmn2r52 T A 7: 9,892,734 (GRCm39) T802S probably damaging Het
Wsb2 T A 5: 117,508,769 (GRCm39) F68I probably benign Het
Zbtb8os T C 4: 129,236,924 (GRCm39) V113A probably benign Het
Zfp354a A T 11: 50,950,805 (GRCm39) probably benign Het
Other mutations in Kif14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00159:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00160:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00164:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00310:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00330:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00335:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00434:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL00468:Kif14 APN 1 136,396,756 (GRCm39) missense probably benign 0.11
IGL01330:Kif14 APN 1 136,404,112 (GRCm39) missense probably damaging 0.99
IGL01530:Kif14 APN 1 136,406,157 (GRCm39) splice site probably benign
IGL01622:Kif14 APN 1 136,425,094 (GRCm39) splice site probably benign
IGL01689:Kif14 APN 1 136,447,380 (GRCm39) missense probably damaging 0.99
IGL02115:Kif14 APN 1 136,424,305 (GRCm39) splice site probably benign
IGL02252:Kif14 APN 1 136,406,130 (GRCm39) missense probably damaging 1.00
IGL02259:Kif14 APN 1 136,427,840 (GRCm39) missense probably benign
IGL02439:Kif14 APN 1 136,417,999 (GRCm39) missense probably damaging 1.00
IGL02590:Kif14 APN 1 136,423,742 (GRCm39) missense probably benign 0.00
IGL02606:Kif14 APN 1 136,424,331 (GRCm39) missense probably damaging 1.00
IGL03253:Kif14 APN 1 136,415,198 (GRCm39) missense probably damaging 0.97
R0106:Kif14 UTSW 1 136,407,662 (GRCm39) splice site probably benign
R0193:Kif14 UTSW 1 136,396,176 (GRCm39) missense probably benign 0.00
R0238:Kif14 UTSW 1 136,455,131 (GRCm39) missense probably damaging 0.99
R0238:Kif14 UTSW 1 136,455,131 (GRCm39) missense probably damaging 0.99
R0239:Kif14 UTSW 1 136,455,131 (GRCm39) missense probably damaging 0.99
R0239:Kif14 UTSW 1 136,455,131 (GRCm39) missense probably damaging 0.99
R0329:Kif14 UTSW 1 136,423,764 (GRCm39) splice site probably benign
R0346:Kif14 UTSW 1 136,395,898 (GRCm39) missense probably damaging 1.00
R0393:Kif14 UTSW 1 136,410,156 (GRCm39) missense probably damaging 1.00
R0519:Kif14 UTSW 1 136,396,885 (GRCm39) missense probably damaging 1.00
R0590:Kif14 UTSW 1 136,410,210 (GRCm39) missense probably damaging 0.97
R0633:Kif14 UTSW 1 136,455,043 (GRCm39) missense probably damaging 0.96
R0657:Kif14 UTSW 1 136,396,840 (GRCm39) missense probably benign 0.07
R0831:Kif14 UTSW 1 136,453,609 (GRCm39) splice site probably benign
R0971:Kif14 UTSW 1 136,447,392 (GRCm39) missense probably damaging 0.98
R1018:Kif14 UTSW 1 136,423,579 (GRCm39) splice site probably benign
R1520:Kif14 UTSW 1 136,431,062 (GRCm39) missense probably benign 0.00
R1713:Kif14 UTSW 1 136,455,202 (GRCm39) missense probably benign 0.00
R1728:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1728:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1728:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1728:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1728:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1728:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1728:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1729:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1729:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1729:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1729:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1729:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1729:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1729:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1730:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1730:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1730:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1730:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1730:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1730:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1730:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1739:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1739:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1739:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1739:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1739:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1739:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1739:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1762:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1762:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1762:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1762:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1762:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1762:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1762:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1783:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1783:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1783:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1783:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1783:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1783:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1783:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1784:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1784:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1784:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1784:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1784:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1784:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1784:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1785:Kif14 UTSW 1 136,396,713 (GRCm39) missense probably damaging 1.00
R1785:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign 0.00
R1785:Kif14 UTSW 1 136,418,070 (GRCm39) missense probably benign
R1785:Kif14 UTSW 1 136,431,169 (GRCm39) missense probably benign 0.10
R1785:Kif14 UTSW 1 136,443,699 (GRCm39) missense probably benign 0.04
R1785:Kif14 UTSW 1 136,453,521 (GRCm39) missense probably benign 0.03
R1785:Kif14 UTSW 1 136,396,017 (GRCm39) missense probably benign
R1872:Kif14 UTSW 1 136,414,096 (GRCm39) missense probably damaging 1.00
R2049:Kif14 UTSW 1 136,414,818 (GRCm39) missense probably benign
R2049:Kif14 UTSW 1 136,437,905 (GRCm39) missense possibly damaging 0.68
R2268:Kif14 UTSW 1 136,447,486 (GRCm39) nonsense probably null
R2373:Kif14 UTSW 1 136,407,583 (GRCm39) missense probably damaging 1.00
R3076:Kif14 UTSW 1 136,447,383 (GRCm39) missense possibly damaging 0.51
R3077:Kif14 UTSW 1 136,447,383 (GRCm39) missense possibly damaging 0.51
R3078:Kif14 UTSW 1 136,447,383 (GRCm39) missense possibly damaging 0.51
R4232:Kif14 UTSW 1 136,444,101 (GRCm39) nonsense probably null
R4246:Kif14 UTSW 1 136,401,126 (GRCm39) missense possibly damaging 0.80
R4247:Kif14 UTSW 1 136,401,126 (GRCm39) missense possibly damaging 0.80
R4250:Kif14 UTSW 1 136,401,126 (GRCm39) missense possibly damaging 0.80
R4672:Kif14 UTSW 1 136,449,016 (GRCm39) missense probably benign 0.00
R4672:Kif14 UTSW 1 136,449,017 (GRCm39) missense probably benign
R4890:Kif14 UTSW 1 136,414,868 (GRCm39) missense possibly damaging 0.91
R4994:Kif14 UTSW 1 136,410,697 (GRCm39) missense probably damaging 1.00
R5102:Kif14 UTSW 1 136,444,141 (GRCm39) missense probably benign 0.00
R5185:Kif14 UTSW 1 136,455,207 (GRCm39) nonsense probably null
R5201:Kif14 UTSW 1 136,431,145 (GRCm39) missense probably benign 0.00
R5399:Kif14 UTSW 1 136,431,062 (GRCm39) missense probably benign 0.00
R5431:Kif14 UTSW 1 136,424,433 (GRCm39) missense possibly damaging 0.91
R5932:Kif14 UTSW 1 136,444,128 (GRCm39) missense probably benign 0.23
R6027:Kif14 UTSW 1 136,410,797 (GRCm39) splice site probably null
R6246:Kif14 UTSW 1 136,404,162 (GRCm39) nonsense probably null
R6331:Kif14 UTSW 1 136,443,724 (GRCm39) missense probably null 1.00
R6448:Kif14 UTSW 1 136,431,085 (GRCm39) missense probably damaging 0.99
R6453:Kif14 UTSW 1 136,410,042 (GRCm39) splice site probably null
R6475:Kif14 UTSW 1 136,455,149 (GRCm39) missense probably damaging 1.00
R6631:Kif14 UTSW 1 136,443,697 (GRCm39) missense probably benign 0.39
R6713:Kif14 UTSW 1 136,453,544 (GRCm39) missense probably benign
R7173:Kif14 UTSW 1 136,406,908 (GRCm39) missense probably damaging 0.98
R7174:Kif14 UTSW 1 136,448,995 (GRCm39) missense possibly damaging 0.67
R7241:Kif14 UTSW 1 136,396,491 (GRCm39) missense probably benign 0.41
R7674:Kif14 UTSW 1 136,396,558 (GRCm39) missense probably damaging 0.99
R7688:Kif14 UTSW 1 136,422,392 (GRCm39) missense probably damaging 1.00
R7711:Kif14 UTSW 1 136,399,191 (GRCm39) missense probably benign 0.10
R7722:Kif14 UTSW 1 136,396,033 (GRCm39) missense probably benign 0.00
R7763:Kif14 UTSW 1 136,444,121 (GRCm39) missense probably benign 0.00
R7882:Kif14 UTSW 1 136,443,763 (GRCm39) missense probably benign 0.43
R7882:Kif14 UTSW 1 136,399,314 (GRCm39) critical splice donor site probably null
R8077:Kif14 UTSW 1 136,399,186 (GRCm39) missense possibly damaging 0.87
R8101:Kif14 UTSW 1 136,404,090 (GRCm39) missense probably benign 0.14
R8308:Kif14 UTSW 1 136,443,651 (GRCm39) missense possibly damaging 0.90
R8338:Kif14 UTSW 1 136,422,416 (GRCm39) missense probably damaging 1.00
R8527:Kif14 UTSW 1 136,396,495 (GRCm39) missense possibly damaging 0.95
R8542:Kif14 UTSW 1 136,396,495 (GRCm39) missense possibly damaging 0.95
R9435:Kif14 UTSW 1 136,401,174 (GRCm39) missense possibly damaging 0.92
R9499:Kif14 UTSW 1 136,455,219 (GRCm39) missense probably damaging 0.96
R9551:Kif14 UTSW 1 136,455,219 (GRCm39) missense probably damaging 0.96
R9577:Kif14 UTSW 1 136,399,138 (GRCm39) missense probably benign 0.00
X0021:Kif14 UTSW 1 136,418,014 (GRCm39) missense probably damaging 1.00
Z1176:Kif14 UTSW 1 136,427,754 (GRCm39) critical splice acceptor site probably null
Z1176:Kif14 UTSW 1 136,424,391 (GRCm39) missense probably damaging 0.97
Z1177:Kif14 UTSW 1 136,406,103 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCCCGTTCTATTGATTTGAGG -3'
(R):5'- AATTCCACTACTTGCAAGGCAG -3'

Sequencing Primer
(F):5'- AGGTTTTCTAGACAGTTACTGCTAGC -3'
(R):5'- TTGGGTGTCCACAATACAGC -3'
Posted On 2021-08-02