Incidental Mutation 'R6629:Kif5a'
ID 524998
Institutional Source Beutler Lab
Gene Symbol Kif5a
Ensembl Gene ENSMUSG00000074657
Gene Name kinesin family member 5A
Synonyms Kif5, Kns, Khc, D10Bwg0738e
MMRRC Submission 044751-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6629 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127061565-127099217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127084123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 52 (V52A)
Ref Sequence ENSEMBL: ENSMUSP00000151402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099172] [ENSMUST00000217895] [ENSMUST00000218298]
AlphaFold P33175
Predicted Effect probably damaging
Transcript: ENSMUST00000099172
AA Change: V52A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: V52A

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 damaging
Transcript: ENSMUST00000217895
AA Change: V52A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218298
Meta Mutation Damage Score 0.4312 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 97% (38/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn3 A T 12: 101,903,665 (GRCm39) M180K probably benign Het
Bnip2 G T 9: 69,909,393 (GRCm39) R236L probably null Het
Boc T C 16: 44,312,724 (GRCm39) D582G probably benign Het
Cacul1 T C 19: 60,568,805 (GRCm39) S118G probably benign Het
Ccdc192 T C 18: 57,863,852 (GRCm39) S219P possibly damaging Het
Cpa2 A T 6: 30,554,193 (GRCm39) D271V probably damaging Het
Cubn G A 2: 13,435,683 (GRCm39) T1091M probably damaging Het
Dlgap2 A G 8: 14,881,465 (GRCm39) T846A probably benign Het
Eif5 G T 12: 111,510,042 (GRCm39) A329S probably damaging Het
Fam136b-ps G A 15: 31,276,962 (GRCm39) probably benign Het
Gnrhr A G 5: 86,330,168 (GRCm39) V284A probably benign Het
Grin3a A G 4: 49,844,991 (GRCm39) S31P probably damaging Het
Hectd2 T C 19: 36,592,938 (GRCm39) L701P probably damaging Het
Hook1 C T 4: 95,889,507 (GRCm39) T241I probably benign Het
Lasp1 T A 11: 97,697,722 (GRCm39) Y11* probably null Het
Meltf A G 16: 31,703,894 (GRCm39) Y207C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,504 (GRCm39) probably benign Het
Nek1 A G 8: 61,507,367 (GRCm39) probably null Het
Notch2 C A 3: 98,028,197 (GRCm39) N969K possibly damaging Het
Or4c116 T A 2: 88,942,506 (GRCm39) M117L probably benign Het
Pcnx2 C T 8: 126,617,851 (GRCm39) G135R probably benign Het
Pla2g4f A T 2: 120,138,723 (GRCm39) L242Q probably damaging Het
Plcxd2 T G 16: 45,785,470 (GRCm39) T312P probably damaging Het
Prpf4 G A 4: 62,336,097 (GRCm39) V275I possibly damaging Het
Prpf8 G A 11: 75,386,252 (GRCm39) probably null Het
Pxn T C 5: 115,692,121 (GRCm39) L401P probably damaging Het
Rab44 A T 17: 29,354,754 (GRCm39) probably benign Het
Rfx6 C A 10: 51,601,586 (GRCm39) T669K probably benign Het
Rgs16 A G 1: 153,619,420 (GRCm39) N142S probably damaging Het
Rhobtb1 A G 10: 69,106,146 (GRCm39) E237G possibly damaging Het
Rsbn1 A C 3: 103,835,757 (GRCm39) D265A probably damaging Het
Rufy4 A G 1: 74,171,526 (GRCm39) probably null Het
Slc4a1 C A 11: 102,252,048 (GRCm39) E19* probably null Het
Tctn1 A G 5: 122,380,731 (GRCm39) S526P probably damaging Het
Tspear A T 10: 77,706,343 (GRCm39) H371L probably benign Het
Vmn1r34 A T 6: 66,614,499 (GRCm39) F80I probably benign Het
Wdr75 G A 1: 45,851,216 (GRCm39) S264N probably damaging Het
Zfp652 A T 11: 95,654,616 (GRCm39) N340Y probably damaging Het
Zp3 A G 5: 136,016,190 (GRCm39) T306A 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
R4782:Kif5a UTSW 10 127,066,823 (GRCm39) missense probably benign 0.01
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
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'- TGAGGATGTCTGTCCATAAGCG -3'
(R):5'- CGGTAAACTCAGCCTCTCTC -3'

Sequencing Primer
(F):5'- CTGTCCATAAGCGAAGATTGTGCC -3'
(R):5'- GTAAACTCAGCCTCTCTCCACGG -3'
Posted On 2018-06-22