Incidental Mutation 'R6331:Kif14'
ID 510884
Institutional Source Beutler Lab
Gene Symbol Kif14
Ensembl Gene ENSMUSG00000041498
Gene Name kinesin family member 14
Synonyms N-3 kinesin, D1Ertd367e
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136394081-136459249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136443724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1299 (D1299G)
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: D1249G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044257
Gene: ENSMUSG00000041498
AA Change: D1249G

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: D1299G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139698
Gene: ENSMUSG00000041498
AA Change: D1299G

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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,529,199 (GRCm39) D981G probably damaging Het
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Dmp1 T C 5: 104,354,991 (GRCm39) L10P probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lcmt1 T C 7: 122,977,405 (GRCm39) probably benign Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tube1 G A 10: 39,010,097 (GRCm39) V7I probably benign Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Usp33 A T 3: 152,081,887 (GRCm39) M546L probably damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably 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
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
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'- CCTGCATCCACGAATTTGTCTG -3'
(R):5'- CCATTGAAGCATCGAAGCATG -3'

Sequencing Primer
(F):5'- CCACGAATTTGTCTGAAAGTATTGTG -3'
(R):5'- TGATGGAGAGATGCCGGCC -3'
Posted On 2018-04-02