Incidental Mutation 'R2012:Kif5a'
ID 219976
Institutional Source Beutler Lab
Gene Symbol Kif5a
Ensembl Gene ENSMUSG00000074657
Gene Name kinesin family member 5A
Synonyms Kif5, Kns, Khc, D10Bwg0738e
MMRRC Submission 040021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2012 (G1)
Quality Score 107
Status Not validated
Chromosome 10
Chromosomal Location 127061565-127099217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127075044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 523 (V523E)
Ref Sequence ENSEMBL: ENSMUSP00000151402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099172] [ENSMUST00000217895] [ENSMUST00000218298]
AlphaFold P33175
Predicted Effect probably benign
Transcript: ENSMUST00000099172
AA Change: V523E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: V523E

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: V523E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218298
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A T 5: 8,167,634 (GRCm39) S675R probably damaging Het
Akap5 A T 12: 76,376,122 (GRCm39) H518L possibly damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Aox3 A T 1: 58,177,391 (GRCm39) Y202F probably benign Het
Arhgef37 G A 18: 61,637,427 (GRCm39) L412F possibly damaging Het
B4galt3 C T 1: 171,100,118 (GRCm39) P121L probably damaging Het
BC034090 C T 1: 155,097,178 (GRCm39) R640Q probably damaging Het
Bhmt A T 13: 93,761,900 (GRCm39) Y128N probably damaging Het
Bin3 A G 14: 70,372,222 (GRCm39) E173G probably damaging Het
C1qtnf1 T A 11: 118,339,110 (GRCm39) F260Y probably benign Het
Ccdc14 G T 16: 34,511,092 (GRCm39) G22V possibly damaging Het
Ccnc A T 4: 21,741,955 (GRCm39) I135L possibly damaging Het
Chd3 T C 11: 69,239,878 (GRCm39) D1650G probably benign Het
Cherp A C 8: 73,228,613 (GRCm39) N14K probably damaging Het
Clint1 C T 11: 45,784,919 (GRCm39) T306I possibly damaging Het
Cyb5r1 T A 1: 134,335,315 (GRCm39) Y85N probably damaging Het
D830013O20Rik A G 12: 73,418,162 (GRCm39) noncoding transcript Het
Dapk1 A T 13: 60,869,671 (GRCm39) K304N probably damaging Het
Dnah6 T A 6: 73,044,449 (GRCm39) N3169Y probably damaging Het
Dync2h1 A T 9: 7,169,589 (GRCm39) I296K probably benign Het
Elp2 A T 18: 24,764,515 (GRCm39) T621S probably benign Het
Eml6 G T 11: 29,781,128 (GRCm39) Q635K possibly damaging Het
Exph5 G A 9: 53,278,466 (GRCm39) M192I possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gas6 C T 8: 13,518,266 (GRCm39) V523M probably damaging Het
Ggn A T 7: 28,873,188 (GRCm39) probably null Het
Gimap8 A G 6: 48,633,287 (GRCm39) T369A probably damaging Het
Grm5 T C 7: 87,724,080 (GRCm39) I790T probably damaging Het
Gtpbp6 G A 5: 110,252,790 (GRCm39) A354V probably damaging Het
Habp4 G A 13: 64,317,995 (GRCm39) probably null Het
Has2 A G 15: 56,531,264 (GRCm39) W484R probably damaging Het
Herc4 G T 10: 63,079,817 (GRCm39) probably benign Het
Igf2 C A 7: 142,208,136 (GRCm39) E106D probably damaging Het
Il17rb A T 14: 29,718,797 (GRCm39) C428* probably null Het
Ipo11 A T 13: 107,056,130 (GRCm39) N47K probably benign Het
Itga4 T G 2: 79,108,138 (GRCm39) S197A probably damaging Het
Itpr1 T A 6: 108,417,497 (GRCm39) M1788K probably benign Het
Kbtbd3 C T 9: 4,330,919 (GRCm39) T431I probably benign Het
Klhl41 A T 2: 69,513,840 (GRCm39) D573V possibly damaging Het
Kndc1 C A 7: 139,501,196 (GRCm39) H828Q possibly damaging Het
Leng8 T A 7: 4,146,609 (GRCm39) V407D probably damaging Het
Mamdc2 C T 19: 23,288,215 (GRCm39) E608K probably benign Het
Mcf2 T A X: 59,122,574 (GRCm39) R850S probably damaging Het
Mmp2 A G 8: 93,576,831 (GRCm39) N618S probably benign Het
Morn5 A T 2: 35,942,950 (GRCm39) M17L probably benign Het
Nme8 T C 13: 19,881,053 (GRCm39) N26S probably damaging Het
Nostrin C A 2: 68,975,111 (GRCm39) probably null Het
Npy4r T A 14: 33,869,154 (GRCm39) I45F possibly damaging Het
Or13a21 T A 7: 139,999,024 (GRCm39) I221F probably damaging Het
Or1j11 A G 2: 36,311,931 (GRCm39) I174V probably benign Het
Or2aj5 C T 16: 19,424,881 (GRCm39) C179Y probably benign Het
Or2w1 T A 13: 21,317,659 (GRCm39) M238K probably benign Het
Or2w3b T C 11: 58,623,214 (GRCm39) Y259C possibly damaging Het
Or4a70 A G 2: 89,324,342 (GRCm39) F105L probably benign Het
Or5d36 A G 2: 87,901,063 (GRCm39) V221A probably benign Het
Oxt A G 2: 130,418,572 (GRCm39) D61G probably damaging Het
Patl1 T C 19: 11,917,181 (GRCm39) L676P probably damaging Het
Pcdhb20 G A 18: 37,638,127 (GRCm39) G218R probably damaging Het
Pdgfrb T A 18: 61,194,566 (GRCm39) S114R probably benign Het
Pfdn5 A G 15: 102,234,956 (GRCm39) N54S possibly damaging Het
Phldb1 G T 9: 44,639,333 (GRCm39) T15N possibly damaging Het
Pink1 A C 4: 138,045,316 (GRCm39) S253A probably null Het
Plag1 A T 4: 3,904,870 (GRCm39) L107Q probably damaging Het
Pld5 C A 1: 175,791,579 (GRCm39) V476L probably benign Het
Pramel28 A T 4: 143,692,637 (GRCm39) D121E probably benign Het
Prrt2 C T 7: 126,618,581 (GRCm39) A295T probably damaging Het
Ptgs1 A G 2: 36,127,668 (GRCm39) I76V probably benign Het
Ptprz1 A G 6: 23,001,026 (GRCm39) T1039A probably benign Het
Rbm20 G A 19: 53,847,859 (GRCm39) C1135Y probably damaging Het
Recql5 A T 11: 115,787,923 (GRCm39) N465K probably benign Het
Rgs12 A G 5: 35,187,872 (GRCm39) S510G probably benign Het
Satb1 G A 17: 52,089,816 (GRCm39) Q344* probably null Het
Sdr16c5 A G 4: 3,996,244 (GRCm39) I283T probably benign Het
Serpinb3c T C 1: 107,199,574 (GRCm39) S316G possibly damaging Het
Siglec1 A T 2: 130,925,277 (GRCm39) Y395N probably damaging Het
Simc1 A G 13: 54,651,701 (GRCm39) I5V probably benign Het
Slc27a2 T C 2: 126,395,535 (GRCm39) V154A probably damaging Het
Slc27a5 A G 7: 12,731,634 (GRCm39) L119S probably damaging Het
Slc35g2 T A 9: 100,435,120 (GRCm39) T184S possibly damaging Het
Slc4a7 C T 14: 14,733,727 (GRCm38) R46* probably null Het
Smcr8 T C 11: 60,669,010 (GRCm39) F53L probably damaging Het
Spag9 T A 11: 93,983,201 (GRCm39) L504* probably null Het
Spata31d1a A G 13: 59,850,370 (GRCm39) I586T possibly damaging Het
Spata31d1c A T 13: 65,183,041 (GRCm39) E194D possibly damaging Het
Spats2 A G 15: 99,076,375 (GRCm39) E151G probably damaging Het
Sugp2 T A 8: 70,695,861 (GRCm39) L278Q possibly damaging Het
Sult2a7 T A 7: 14,207,322 (GRCm39) probably benign Het
Syde2 G T 3: 145,694,163 (GRCm39) G137V possibly damaging Het
Synj1 A T 16: 90,735,584 (GRCm39) F1456L probably damaging Het
Szt2 A G 4: 118,220,862 (GRCm39) probably benign Het
Timd4 C A 11: 46,710,857 (GRCm39) T253K possibly damaging Het
Tlr3 G T 8: 45,855,823 (GRCm39) T119N possibly damaging Het
Tmc6 A G 11: 117,660,232 (GRCm39) Y669H probably damaging Het
Tmem221 T C 8: 72,008,458 (GRCm39) E194G probably benign Het
Tmem232 C A 17: 65,807,167 (GRCm39) V9F probably benign Het
Tpm1 G A 9: 66,941,247 (GRCm39) Q135* probably null Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trpm7 A T 2: 126,665,917 (GRCm39) Y896* probably null Het
Tuba4a A T 1: 75,192,983 (GRCm39) Y210* probably null Het
Tut7 A G 13: 59,959,352 (GRCm39) V372A probably damaging Het
Vegfa T G 17: 46,336,284 (GRCm39) I279L probably benign Het
Vmn2r54 T A 7: 12,349,804 (GRCm39) T593S probably damaging Het
Vmn2r93 A G 17: 18,536,840 (GRCm39) I508V probably benign Het
Vps33a G T 5: 123,669,244 (GRCm39) probably null Het
Wasl T A 6: 24,624,360 (GRCm39) N231I probably damaging Het
Zbtb39 A G 10: 127,578,703 (GRCm39) N426D probably benign Het
Zeb2 T G 2: 44,887,962 (GRCm39) H350P probably damaging Het
Zfp112 T C 7: 23,824,725 (GRCm39) F231S possibly damaging Het
Zfp180 T C 7: 23,803,943 (GRCm39) S121P 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
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
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'- AAGACTCTGAGGGCTGCTATG -3'
(R):5'- TTGGAACTTCGCGCACACAG -3'

Sequencing Primer
(F):5'- CTATGGGGAGAACACAGACCCTG -3'
(R):5'- AGTGCGCGGTCTCGAATAC -3'
Posted On 2014-08-25