Incidental Mutation 'R2073:Kif5a'
ID 227345
Institutional Source Beutler Lab
Gene Symbol Kif5a
Ensembl Gene ENSMUSG00000074657
Gene Name kinesin family member 5A
Synonyms Kif5, Kns, Khc, D10Bwg0738e
MMRRC Submission 040078-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2073 (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 C at 127081238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 232 (D232G)
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: D232G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096775
Gene: ENSMUSG00000074657
AA Change: D232G

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: D232G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000218298
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T C 7: 130,959,242 (GRCm39) R153G probably benign Het
5730596B20Rik C A 6: 52,155,962 (GRCm39) Y9* probably null Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Acot3 A G 12: 84,100,230 (GRCm39) H2R possibly damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Adra1b T C 11: 43,726,698 (GRCm39) N73S probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ank T C 15: 27,565,108 (GRCm39) S270P probably benign Het
Ankle1 G A 8: 71,861,973 (GRCm39) R492H possibly damaging Het
Ankub1 G A 3: 57,599,713 (GRCm39) H19Y possibly damaging Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Apaf1 G T 10: 90,867,556 (GRCm39) S763* probably null Het
Apba3 A G 10: 81,105,128 (GRCm39) T134A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bod1l C T 5: 41,976,532 (GRCm39) S1594N probably benign Het
C7 T C 15: 5,019,910 (GRCm39) M746V probably benign Het
Cdkn2a T A 4: 89,212,730 (GRCm39) I11F possibly damaging Het
Cideb T C 14: 55,992,617 (GRCm39) M100V possibly damaging Het
Cntnap5c T C 17: 58,612,547 (GRCm39) L862P possibly damaging Het
Coch A T 12: 51,649,472 (GRCm39) D261V probably benign Het
Cyp2ab1 A G 16: 20,132,639 (GRCm39) F220L possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dgkg A G 16: 22,384,067 (GRCm39) F462S probably damaging Het
Dlgap3 C T 4: 127,089,159 (GRCm39) H252Y probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnaaf6rt A G 1: 31,262,077 (GRCm39) S20G probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Dtnb A G 12: 3,831,273 (GRCm39) T658A probably benign Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Dync1h1 T A 12: 110,581,026 (GRCm39) I251N probably damaging Het
Eml5 A G 12: 98,768,705 (GRCm39) S1457P probably damaging Het
Fam114a1 T A 5: 65,153,247 (GRCm39) probably null Het
Fcho1 A T 8: 72,163,133 (GRCm39) L632Q probably damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Gm16223 T C 5: 42,371,942 (GRCm39) C111R unknown Het
H2-Q4 T A 17: 35,599,378 (GRCm39) S154T possibly damaging Het
Hhat A G 1: 192,409,687 (GRCm39) F125L possibly damaging Het
Ier5l T A 2: 30,363,068 (GRCm39) D319V probably damaging Het
M1ap A G 6: 82,958,863 (GRCm39) I165V probably benign Het
Map2k4 A C 11: 65,584,282 (GRCm39) F334V probably damaging Het
Mmp19 G A 10: 128,630,848 (GRCm39) R156H probably damaging Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nr4a1 C A 15: 101,171,948 (GRCm39) H541N probably damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or5b122 A T 19: 13,562,965 (GRCm39) Q99L probably damaging Het
Pak6 A C 2: 118,519,332 (GRCm39) N17T probably damaging Het
Pcnt T A 10: 76,216,214 (GRCm39) T2225S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf21a A G 2: 92,178,381 (GRCm39) D357G probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Plekhd1 A G 12: 80,768,066 (GRCm39) N335D probably benign Het
Pole C A 5: 110,473,417 (GRCm39) T1737N probably damaging Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Pramel6 G A 2: 87,339,088 (GRCm39) S96N probably damaging Het
Prdm14 A C 1: 13,195,954 (GRCm39) Y36D possibly damaging Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Rfc1 A T 5: 65,459,282 (GRCm39) D225E probably damaging Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Setd6 G A 8: 96,443,416 (GRCm39) V60M probably damaging Het
Sgk3 A G 1: 9,961,649 (GRCm39) I432V probably benign Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc1a6 T C 10: 78,635,964 (GRCm39) V343A possibly damaging Het
Slc43a3 T C 2: 84,774,956 (GRCm39) probably null Het
Smc3 A G 19: 53,619,964 (GRCm39) D620G probably benign Het
Smg6 C G 11: 74,821,120 (GRCm39) P464A probably damaging Het
Sox11 T C 12: 27,392,278 (GRCm39) T44A possibly damaging Het
Spata22 A G 11: 73,227,052 (GRCm39) R89G possibly damaging Het
Spmip6 A G 4: 41,507,519 (GRCm39) probably null Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syne2 A G 12: 76,062,353 (GRCm39) D4226G possibly damaging Het
Tecpr2 T C 12: 110,934,863 (GRCm39) S1370P possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Trib1 T A 15: 59,526,189 (GRCm39) I253N probably damaging Het
Triobp G T 15: 78,858,095 (GRCm39) G1232V probably damaging Het
Trpm6 G A 19: 18,853,406 (GRCm39) V1809M probably damaging Het
Tsc22d4 A G 5: 137,760,749 (GRCm39) K57E possibly damaging Het
Vmn2r109 T A 17: 20,784,974 (GRCm39) K15N probably benign Het
Wnt9a A G 11: 59,222,055 (GRCm39) N318D probably damaging Het
Wwp1 A G 4: 19,662,181 (GRCm39) V138A possibly damaging Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp715 T A 7: 42,960,544 (GRCm39) T16S probably benign Het
Zfp932 A G 5: 110,157,684 (GRCm39) T461A possibly damaging Het
Zscan29 A T 2: 120,991,336 (GRCm39) C817* probably null 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
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'- AAATATTTGCTTATTACTGGGGAGGGC -3'
(R):5'- AACCGTCACGTAGCTGTCAC -3'

Sequencing Primer
(F):5'- ACTGGGGAGGGCTTGTAATATTATC -3'
(R):5'- TCACGTAGCTGTCACCAGTAAGTG -3'
Posted On 2014-09-17