Incidental Mutation 'R0393:Kif14'
ID 172377
Institutional Source Beutler Lab
Gene Symbol Kif14
Ensembl Gene ENSMUSG00000041498
Gene Name kinesin family member 14
Synonyms N-3 kinesin, D1Ertd367e
MMRRC Submission 038599-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R0393 (G1)
Quality Score 78
Status Validated
Chromosome 1
Chromosomal Location 136394081-136459249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136410156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 628 (H628Y)
Ref Sequence ENSEMBL: ENSMUSP00000139698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047817] [ENSMUST00000189413] [ENSMUST00000195274] [ENSMUST00000201676]
AlphaFold L0N7N1
PDB Structure Crystal structure of the mouse Kif14 motor domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000047817
AA Change: H578Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: H578Y

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 noncoding transcript
Transcript: ENSMUST00000187963
Predicted Effect probably damaging
Transcript: ENSMUST00000189413
AA Change: H628Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: H628Y

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 noncoding transcript
Transcript: ENSMUST00000193587
Predicted Effect probably benign
Transcript: ENSMUST00000195274
SMART Domains Protein: ENSMUSP00000142040
Gene: ENSMUSG00000041498

DomainStartEndE-ValueType
Pfam:Kinesin 29 69 3.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195390
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
Meta Mutation Damage Score 0.1711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,591,604 (GRCm39) probably benign Het
Akr1b7 T G 6: 34,392,335 (GRCm39) Y49* probably null Het
Ankrd10 G T 8: 11,685,482 (GRCm39) R46S possibly damaging Het
Atp13a5 A G 16: 29,085,681 (GRCm39) probably benign Het
Baz1a A G 12: 54,965,221 (GRCm39) probably null Het
Bicd2 C T 13: 49,533,346 (GRCm39) T644M probably damaging Het
Ccr9 A T 9: 123,609,035 (GRCm39) H239L probably benign Het
Cd180 A T 13: 102,842,408 (GRCm39) N485Y probably damaging Het
Ces1d T A 8: 93,919,400 (GRCm39) S131C probably damaging Het
Cnpy2 T A 10: 128,162,076 (GRCm39) S116R probably benign Het
Crym T C 7: 119,788,972 (GRCm39) K285R probably benign Het
Cyp2a4 A T 7: 26,012,293 (GRCm39) I359F possibly damaging Het
Cyp2b10 T A 7: 25,614,359 (GRCm39) probably benign Het
Dcpp3 A T 17: 24,136,925 (GRCm39) probably benign Het
Dnah8 T A 17: 30,927,364 (GRCm39) I1340K probably benign Het
Fbln1 T C 15: 85,111,277 (GRCm39) C144R probably damaging Het
Gm1553 T C 10: 82,328,010 (GRCm39) R66G unknown Het
Il10rb G A 16: 91,208,898 (GRCm39) V103I probably benign Het
Irak1bp1 T A 9: 82,728,614 (GRCm39) W182R probably benign Het
Kcna3 T C 3: 106,944,315 (GRCm39) S193P probably damaging Het
Krt31 A G 11: 99,941,079 (GRCm39) L77P probably damaging Het
Krt36 C T 11: 99,994,940 (GRCm39) A211T possibly damaging Het
L3mbtl2 C T 15: 81,552,942 (GRCm39) A125V probably damaging Het
Lmo7 A G 14: 102,137,892 (GRCm39) T743A probably benign Het
Lyst C T 13: 13,821,664 (GRCm39) T1346M probably benign Het
Mapkbp1 T A 2: 119,843,384 (GRCm39) probably null Het
Mif T C 10: 75,695,638 (GRCm39) D55G probably benign Het
Mlh3 G T 12: 85,314,361 (GRCm39) C608* probably null Het
Mlip A T 9: 77,146,859 (GRCm39) C85S probably benign Het
Mug1 T C 6: 121,826,809 (GRCm39) S211P possibly damaging Het
Mybl2 T A 2: 162,903,528 (GRCm39) probably benign Het
Myh8 C T 11: 67,196,843 (GRCm39) probably benign Het
Nanos1 A G 19: 60,745,368 (GRCm39) Y222C probably damaging Het
Or10ag52 A T 2: 87,044,037 (GRCm39) Y267F probably benign Het
Or2n1e G T 17: 38,585,774 (GRCm39) M37I probably benign Het
Or5d16 T C 2: 87,773,909 (GRCm39) D21G possibly damaging Het
Papolb A G 5: 142,515,211 (GRCm39) V144A probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Plod1 A T 4: 148,003,298 (GRCm39) L509Q probably null Het
Ppp1r13b C A 12: 111,802,122 (GRCm39) M290I probably benign Het
Ralb G C 1: 119,405,856 (GRCm39) probably null Het
Rxylt1 T C 10: 121,931,841 (GRCm39) probably benign Het
Slc4a8 T A 15: 100,672,519 (GRCm39) D18E probably damaging Het
Speg A C 1: 75,400,568 (GRCm39) H2576P possibly damaging Het
Spock1 T C 13: 57,588,349 (GRCm39) D241G probably damaging Het
Tcam1 T A 11: 106,175,040 (GRCm39) V165E probably benign Het
Thbs1 T A 2: 117,943,472 (GRCm39) V30E possibly damaging Het
Tll2 A G 19: 41,077,265 (GRCm39) Y834H possibly damaging Het
Trpm6 G A 19: 18,756,008 (GRCm39) D84N probably damaging Het
Ubr1 T A 2: 120,737,427 (GRCm39) Q1039L probably damaging Het
Ubr4 A G 4: 139,138,171 (GRCm39) probably benign Het
Vmn1r74 T C 7: 11,581,242 (GRCm39) Y181H possibly damaging Het
Vmn2r13 T C 5: 109,304,395 (GRCm39) T679A probably benign Het
Vmn2r91 A T 17: 18,325,712 (GRCm39) Y110F probably damaging Het
Zbtb40 A C 4: 136,745,842 (GRCm39) S64A probably benign Het
Zfp184 T A 13: 22,131,252 (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
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
R8884:Kif14 UTSW 1 136,414,089 (GRCm39) missense
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'- TCACAATCGAAGTGCTGTTCAGTATGT -3'
(R):5'- TCAGAGTGAGTTTCAGCATCAGGAGAA -3'

Sequencing Primer
(F):5'- aattcaattcccagcaaccac -3'
(R):5'- TTTCAGCATCAGGAGAAGAGTG -3'
Posted On 2014-04-17