Incidental Mutation 'R4782:Kif5a'
ID 366635
Institutional Source Beutler Lab
Gene Symbol Kif5a
Ensembl Gene ENSMUSG00000074657
Gene Name kinesin family member 5A
Synonyms Kif5, Kns, Khc, D10Bwg0738e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4782 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127061565-127099217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127066823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 960 (Q960L)
Ref Sequence ENSEMBL: ENSMUSP00000151402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099172] [ENSMUST00000217895]
AlphaFold P33175
Predicted Effect probably benign
Transcript: ENSMUST00000099172
AA Change: Q960L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: Q960L

DomainStartEndE-ValueType
KISc 7 335 7.38e-173 SMART
low complexity region 340 362 N/A INTRINSIC
coiled coil region 408 539 N/A INTRINSIC
low complexity region 591 603 N/A INTRINSIC
coiled coil region 632 800 N/A INTRINSIC
coiled coil region 822 905 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217895
AA Change: Q960L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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 family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes complete neonatal lethality. Homozygotes delivered by caesarian section are alive at E18.5 but usually die within minutes after birth, exhibiting an abnormal breathing pattern, atelectasis, cyanosis, and abnormal motor neuron morphology in the spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,278,096 (GRCm39) E3092G probably damaging Het
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Abtb2 A T 2: 103,547,644 (GRCm39) D1006V probably benign Het
Abtb3 A C 10: 85,490,414 (GRCm39) I1027L probably damaging Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ahnak A G 19: 8,989,863 (GRCm39) probably benign Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Amotl2 T G 9: 102,597,322 (GRCm39) probably null Het
Ankrd34b T A 13: 92,574,813 (GRCm39) I15N probably damaging Het
Ap3d1 C T 10: 80,557,420 (GRCm39) probably null Het
Appl2 A T 10: 83,436,855 (GRCm39) D635E probably damaging Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atp10a T C 7: 58,440,843 (GRCm39) M496T probably benign Het
Atp2c2 A G 8: 120,475,891 (GRCm39) K595E probably damaging Het
Atpaf2 T C 11: 60,295,238 (GRCm39) H204R probably damaging Het
Atr G A 9: 95,744,850 (GRCm39) V56I probably benign Het
Bod1l G A 5: 41,991,006 (GRCm39) T183I probably benign Het
Ccdc168 T C 1: 44,098,203 (GRCm39) D965G possibly damaging Het
Ccdc171 A T 4: 83,599,253 (GRCm39) E689D probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cert1 T C 13: 96,748,773 (GRCm39) V281A probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Col22a1 T A 15: 71,673,774 (GRCm39) T981S unknown Het
Cpox G A 16: 58,492,986 (GRCm39) A207T probably damaging Het
Cym G A 3: 107,123,413 (GRCm39) T160I possibly damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddx4 C T 13: 112,750,230 (GRCm39) probably null Het
Ddx4 A T 13: 112,787,894 (GRCm39) V15E probably benign Het
Depdc1a G A 3: 159,232,273 (GRCm39) E675K probably damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Dlg4 C T 11: 69,917,780 (GRCm39) P21L probably damaging Het
Dmxl1 A T 18: 49,996,059 (GRCm39) N395I probably damaging Het
Dzank1 A T 2: 144,346,319 (GRCm39) C249S probably damaging Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Ercc6l2 T G 13: 63,982,552 (GRCm39) I244S probably damaging Het
Ewsr1 A T 11: 5,020,423 (GRCm39) M584K unknown Het
Fam193b A G 13: 55,691,284 (GRCm39) S197P probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbxo31 A T 8: 122,279,178 (GRCm39) Y436* probably null Het
Fbxo31 A G 8: 122,279,180 (GRCm39) Y436H probably damaging Het
Fcna T A 2: 25,515,338 (GRCm39) D215V probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gcnt4 A T 13: 97,083,914 (GRCm39) L403F possibly damaging Het
Gdf10 A G 14: 33,653,870 (GRCm39) T126A probably benign Het
Ggcx A G 6: 72,405,875 (GRCm39) K569E probably benign Het
Gm10250 C T 15: 5,150,578 (GRCm39) probably benign Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Ifi44 G A 3: 151,451,229 (GRCm39) P241S probably damaging Het
Irs1 T C 1: 82,265,184 (GRCm39) T1011A probably benign Het
Jag2 A T 12: 112,877,869 (GRCm39) S595T probably benign Het
Kifc2 A G 15: 76,548,548 (GRCm39) E430G possibly damaging Het
Lama3 T A 18: 12,544,627 (GRCm39) C323* probably null Het
Lgsn T C 1: 31,242,823 (GRCm39) Y302H probably benign Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrpap1 A G 5: 35,256,622 (GRCm39) V120A probably damaging Het
Macrod2 T A 2: 140,261,858 (GRCm39) D46E possibly damaging Het
Mbd4 C A 6: 115,822,283 (GRCm39) R63L possibly damaging Het
Mfsd10 T C 5: 34,792,293 (GRCm39) probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Ngb G A 12: 87,146,999 (GRCm39) H73Y probably benign Het
Npepps G A 11: 97,117,652 (GRCm39) T549I probably damaging Het
Nr1h2 A G 7: 44,199,923 (GRCm39) V329A possibly damaging Het
Nsun6 T C 2: 15,041,137 (GRCm39) I151M possibly damaging Het
Ofcc1 T C 13: 40,155,368 (GRCm39) probably null Het
Or1e31 C T 11: 73,689,665 (GRCm39) C306Y probably benign Het
Or2y16 T A 11: 49,334,696 (GRCm39) F6Y probably benign Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or51h1 T A 7: 102,308,041 (GRCm39) N4K possibly damaging Het
Or5an1c C T 19: 12,218,936 (GRCm39) V30I probably benign Het
Or8b46 A G 9: 38,450,371 (GRCm39) Y60C probably damaging Het
Parp6 A G 9: 59,542,267 (GRCm39) probably null Het
Pcnt C A 10: 76,245,411 (GRCm39) R1075S possibly damaging Het
Pla2g4f T C 2: 120,133,757 (GRCm39) E548G probably damaging Het
Polrmt G T 10: 79,575,357 (GRCm39) H725N probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Prtn3 C A 10: 79,717,899 (GRCm39) P169H probably damaging Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprh A T 7: 4,572,576 (GRCm39) H467Q probably benign Het
Raph1 A T 1: 60,528,273 (GRCm39) I996N probably damaging Het
Rasa4 G A 5: 136,120,083 (GRCm39) W53* probably null Het
Rasgrp1 C T 2: 117,115,356 (GRCm39) R744Q probably benign Het
Rmnd5a T C 6: 71,390,333 (GRCm39) E141G probably damaging Het
Rps12 T C 10: 23,662,688 (GRCm39) I51M possibly damaging Het
Scn10a T G 9: 119,451,976 (GRCm39) S1316R possibly damaging Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Setx G A 2: 29,034,058 (GRCm39) R332Q probably damaging Het
Siglec1 A C 2: 130,917,843 (GRCm39) S1011R probably damaging Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Slc11a1 T G 1: 74,423,247 (GRCm39) L366R probably damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Slc30a1 A C 1: 191,641,160 (GRCm39) K269Q probably benign Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Slf2 T A 19: 44,923,364 (GRCm39) probably null Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spta1 A T 1: 174,058,232 (GRCm39) Q1900L probably benign Het
Srgn C T 10: 62,333,631 (GRCm39) E49K possibly damaging Het
Ssu2 A C 6: 112,353,411 (GRCm39) C238G probably damaging Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Thra G A 11: 98,646,990 (GRCm39) S37N probably benign Het
Toporsl A G 4: 52,610,845 (GRCm39) D246G probably damaging Het
Ubap2l G A 3: 89,928,210 (GRCm39) T553M probably damaging Het
Usp10 A G 8: 120,667,930 (GRCm39) Y77C probably benign Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r204 T G 13: 22,740,867 (GRCm39) F166C probably benign Het
Vmn2r14 T C 5: 109,369,370 (GRCm39) I68V probably benign Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Wsb1 A G 11: 79,131,199 (GRCm39) M399T probably benign Het
Xbp1 C T 11: 5,471,167 (GRCm39) T58M probably damaging Het
Zbtb46 A T 2: 181,032,929 (GRCm39) D577E probably benign Het
Zfp366 A G 13: 99,382,991 (GRCm39) D718G probably damaging Het
Zfp408 A T 2: 91,475,369 (GRCm39) V595E possibly damaging Het
Zfp493 T A 13: 67,934,322 (GRCm39) W60R probably null Het
Zfp606 A T 7: 12,227,932 (GRCm39) K626N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Other mutations in Kif5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Kif5a APN 10 127,075,065 (GRCm39) missense probably benign
IGL01405:Kif5a APN 10 127,081,859 (GRCm39) missense probably damaging 1.00
IGL01637:Kif5a APN 10 127,081,237 (GRCm39) missense possibly damaging 0.94
IGL01894:Kif5a APN 10 127,098,648 (GRCm39) missense probably benign 0.04
IGL01978:Kif5a APN 10 127,081,608 (GRCm39) missense probably benign
IGL02039:Kif5a APN 10 127,069,736 (GRCm39) missense possibly damaging 0.95
IGL02052:Kif5a APN 10 127,079,368 (GRCm39) missense probably damaging 1.00
IGL02336:Kif5a APN 10 127,078,565 (GRCm39) missense possibly damaging 0.87
IGL02352:Kif5a APN 10 127,079,370 (GRCm39) missense probably damaging 1.00
IGL02359:Kif5a APN 10 127,079,370 (GRCm39) missense probably damaging 1.00
IGL02834:Kif5a APN 10 127,081,625 (GRCm39) missense probably benign 0.00
IGL03101:Kif5a APN 10 127,071,478 (GRCm39) unclassified probably benign
brittany UTSW 10 127,084,123 (GRCm39) missense probably damaging 1.00
spaniel UTSW 10 127,066,447 (GRCm39) missense probably benign 0.00
R0463:Kif5a UTSW 10 127,071,521 (GRCm39) missense probably benign 0.00
R0790:Kif5a UTSW 10 127,081,878 (GRCm39) intron probably benign
R1070:Kif5a UTSW 10 127,081,275 (GRCm39) missense probably benign 0.00
R1404:Kif5a UTSW 10 127,081,311 (GRCm39) missense probably benign 0.12
R1404:Kif5a UTSW 10 127,081,311 (GRCm39) missense probably benign 0.12
R1502:Kif5a UTSW 10 127,081,310 (GRCm39) missense probably damaging 1.00
R1812:Kif5a UTSW 10 127,077,879 (GRCm39) missense probably benign 0.03
R1837:Kif5a UTSW 10 127,072,684 (GRCm39) nonsense probably null
R1838:Kif5a UTSW 10 127,072,684 (GRCm39) nonsense probably null
R2012:Kif5a UTSW 10 127,075,044 (GRCm39) missense probably benign
R2072:Kif5a UTSW 10 127,081,238 (GRCm39) missense probably damaging 0.99
R2073:Kif5a UTSW 10 127,081,238 (GRCm39) missense probably damaging 0.99
R2074:Kif5a UTSW 10 127,081,238 (GRCm39) missense probably damaging 0.99
R2075:Kif5a UTSW 10 127,081,238 (GRCm39) missense probably damaging 0.99
R2440:Kif5a UTSW 10 127,067,205 (GRCm39) missense probably benign 0.34
R3157:Kif5a UTSW 10 127,081,310 (GRCm39) missense probably damaging 1.00
R3688:Kif5a UTSW 10 127,078,643 (GRCm39) missense probably damaging 1.00
R3740:Kif5a UTSW 10 127,079,337 (GRCm39) missense probably damaging 1.00
R5049:Kif5a UTSW 10 127,075,708 (GRCm39) missense possibly damaging 0.93
R5723:Kif5a UTSW 10 127,066,898 (GRCm39) frame shift probably null
R5764:Kif5a UTSW 10 127,066,898 (GRCm39) frame shift probably null
R5838:Kif5a UTSW 10 127,081,310 (GRCm39) missense probably damaging 1.00
R5903:Kif5a UTSW 10 127,066,447 (GRCm39) missense probably benign 0.00
R6299:Kif5a UTSW 10 127,069,690 (GRCm39) missense probably damaging 1.00
R6384:Kif5a UTSW 10 127,078,644 (GRCm39) missense probably damaging 1.00
R6629:Kif5a UTSW 10 127,084,123 (GRCm39) missense probably damaging 1.00
R7463:Kif5a UTSW 10 127,079,593 (GRCm39) missense probably damaging 0.97
R7558:Kif5a UTSW 10 127,083,948 (GRCm39) missense probably damaging 1.00
R7567:Kif5a UTSW 10 127,073,248 (GRCm39) missense probably benign 0.00
R7733:Kif5a UTSW 10 127,072,609 (GRCm39) missense probably benign 0.00
R7853:Kif5a UTSW 10 127,071,537 (GRCm39) nonsense probably null
R7869:Kif5a UTSW 10 127,079,343 (GRCm39) missense probably damaging 1.00
R7896:Kif5a UTSW 10 127,077,873 (GRCm39) missense probably benign
R8085:Kif5a UTSW 10 127,075,178 (GRCm39) missense probably benign 0.00
R8426:Kif5a UTSW 10 127,067,358 (GRCm39) missense probably damaging 0.99
R8750:Kif5a UTSW 10 127,083,909 (GRCm39) missense probably damaging 1.00
R9206:Kif5a UTSW 10 127,079,227 (GRCm39) critical splice donor site probably null
R9497:Kif5a UTSW 10 127,079,353 (GRCm39) missense probably damaging 1.00
R9747:Kif5a UTSW 10 127,074,622 (GRCm39) missense probably benign 0.00
Z1177:Kif5a UTSW 10 127,072,836 (GRCm39) nonsense probably null
Z1177:Kif5a UTSW 10 127,065,692 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTATGCCTGCAACAGAGGC -3'
(R):5'- TTTCCACCAGAGGATGACGC -3'

Sequencing Primer
(F):5'- GCAACAGAGGCCACCAATCATG -3'
(R):5'- CACCAGAGGATGACGCTGTCAG -3'
Posted On 2015-12-29