Incidental Mutation 'IGL03101:Kif5a'
ID418749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif5a
Ensembl Gene ENSMUSG00000074657
Gene Namekinesin family member 5A
SynonymsKhc, Kns, Kif5, D10Bwg0738e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03101
Quality Score
Status
Chromosome10
Chromosomal Location127225696-127263348 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 127235609 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099172] [ENSMUST00000217895] [ENSMUST00000218298]
Predicted Effect probably benign
Transcript: ENSMUST00000099172
SMART Domains Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657

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
Predicted Effect probably benign
Transcript: ENSMUST00000218298
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 A T 7: 110,060,970 probably benign Het
Abcc1 T A 16: 14,389,868 V23D probably damaging Het
Adam8 G T 7: 139,988,543 N260K possibly damaging Het
Ap3b1 A T 13: 94,455,398 I457L probably benign Het
Apaf1 T C 10: 91,031,559 N808S possibly damaging Het
Arhgef26 A G 3: 62,419,661 T532A possibly damaging Het
Cfap65 G T 1: 74,928,433 T162N possibly damaging Het
Clec12b A G 6: 129,379,517 probably null Het
Creb3 T C 4: 43,563,081 V60A probably benign Het
Cyp11b1 A G 15: 74,835,854 F469L probably benign Het
Defb28 A T 2: 152,520,127 E69V possibly damaging Het
Etnppl T C 3: 130,622,318 L118S probably damaging Het
Fsip1 T C 2: 118,241,663 Y213C probably damaging Het
Glb1l2 A G 9: 26,765,125 W480R probably damaging Het
Gm12394 T C 4: 42,793,424 D236G possibly damaging Het
Herc1 A T 9: 66,487,997 M4205L probably benign Het
Lmbrd2 C T 15: 9,186,608 R557C probably damaging Het
Map4k3 A G 17: 80,655,855 probably null Het
Npc1 A G 18: 12,198,539 I858T probably benign Het
Olfr866 T C 9: 20,027,429 T170A probably benign Het
Pecam1 A G 11: 106,697,351 V92A probably damaging Het
Rbm43 A T 2: 51,926,745 I70N probably benign Het
Rps6kb1 T C 11: 86,502,882 Y474C probably benign Het
Slco2a1 G A 9: 103,077,006 G459R possibly damaging Het
Snca T A 6: 60,827,611 probably benign Het
Stap2 T A 17: 56,002,029 I113F probably damaging Het
Tas2r137 T C 6: 40,491,830 M198T probably benign Het
Trim9 T C 12: 70,346,654 E172G probably damaging Het
Ttll7 T C 3: 146,896,690 V81A possibly damaging Het
Vmn2r103 A G 17: 19,773,520 Y53C probably damaging Het
Vmn2r22 C A 6: 123,637,336 A432S probably benign Het
Zfp943 T C 17: 21,992,175 S81P probably damaging Het
Other mutations in Kif5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Kif5a APN 10 127239196 missense probably benign
IGL01405:Kif5a APN 10 127245990 missense probably damaging 1.00
IGL01637:Kif5a APN 10 127245368 missense possibly damaging 0.94
IGL01894:Kif5a APN 10 127262779 missense probably benign 0.04
IGL01978:Kif5a APN 10 127245739 missense probably benign
IGL02039:Kif5a APN 10 127233867 missense possibly damaging 0.95
IGL02052:Kif5a APN 10 127243499 missense probably damaging 1.00
IGL02336:Kif5a APN 10 127242696 missense possibly damaging 0.87
IGL02352:Kif5a APN 10 127243501 missense probably damaging 1.00
IGL02359:Kif5a APN 10 127243501 missense probably damaging 1.00
IGL02834:Kif5a APN 10 127245756 missense probably benign 0.00
R0463:Kif5a UTSW 10 127235652 missense probably benign 0.00
R0790:Kif5a UTSW 10 127246009 intron probably benign
R1070:Kif5a UTSW 10 127245406 missense probably benign 0.00
R1404:Kif5a UTSW 10 127245442 missense probably benign 0.12
R1404:Kif5a UTSW 10 127245442 missense probably benign 0.12
R1502:Kif5a UTSW 10 127245441 missense probably damaging 1.00
R1812:Kif5a UTSW 10 127242010 missense probably benign 0.03
R1837:Kif5a UTSW 10 127236815 nonsense probably null
R1838:Kif5a UTSW 10 127236815 nonsense probably null
R2012:Kif5a UTSW 10 127239175 missense probably benign
R2072:Kif5a UTSW 10 127245369 missense probably damaging 0.99
R2073:Kif5a UTSW 10 127245369 missense probably damaging 0.99
R2074:Kif5a UTSW 10 127245369 missense probably damaging 0.99
R2075:Kif5a UTSW 10 127245369 missense probably damaging 0.99
R2440:Kif5a UTSW 10 127231336 missense probably benign 0.34
R3157:Kif5a UTSW 10 127245441 missense probably damaging 1.00
R3688:Kif5a UTSW 10 127242774 missense probably damaging 1.00
R3740:Kif5a UTSW 10 127243468 missense probably damaging 1.00
R4782:Kif5a UTSW 10 127230954 missense probably benign 0.01
R5049:Kif5a UTSW 10 127239839 missense possibly damaging 0.93
R5723:Kif5a UTSW 10 127231029 frame shift probably null
R5764:Kif5a UTSW 10 127231029 frame shift probably null
R5838:Kif5a UTSW 10 127245441 missense probably damaging 1.00
R5903:Kif5a UTSW 10 127230578 missense probably benign 0.00
R6299:Kif5a UTSW 10 127233821 missense probably damaging 1.00
R6384:Kif5a UTSW 10 127242775 missense probably damaging 1.00
R6629:Kif5a UTSW 10 127248254 missense probably damaging 1.00
Posted On2016-08-02