Incidental Mutation 'R4232:Kif14'
ID 320890
Institutional Source Beutler Lab
Gene Symbol Kif14
Ensembl Gene ENSMUSG00000041498
Gene Name kinesin family member 14
Synonyms N-3 kinesin, D1Ertd367e
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R4232 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136394081-136459249 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 136444101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1364 (C1364*)
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 null
Transcript: ENSMUST00000047817
AA Change: C1314*
SMART Domains Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: C1314*

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 probably null
Transcript: ENSMUST00000189413
AA Change: C1364*
SMART Domains Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: C1364*

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
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging 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
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'- ATGCTTCAATGGCAACTGTATG -3'
(R):5'- ACGGAACCAGTCTTAGGACC -3'

Sequencing Primer
(F):5'- CAATGGCAACTGTATGTGAGTTCTCC -3'
(R):5'- CCCAGAAATCCTCAGGTGTAAGTTC -3'
Posted On 2015-06-12