Incidental Mutation 'R0049:Kif3a'
ID 40910
Institutional Source Beutler Lab
Gene Symbol Kif3a
Ensembl Gene ENSMUSG00000018395
Gene Name kinesin family member 3A
Synonyms kinesin-II subunit, N-4 kinesin, Kif3, Kifl, Kns3
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0049 (G1)
Quality Score 128
Status Validated
Chromosome 11
Chromosomal Location 53458206-53492794 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 53481560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000130037] [ENSMUST00000173744]
AlphaFold P28741
Predicted Effect probably benign
Transcript: ENSMUST00000057330
SMART Domains Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
coiled coil region 416 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118353
SMART Domains Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
low complexity region 365 418 N/A INTRINSIC
coiled coil region 443 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120613
SMART Domains Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
KISc 12 353 4.6e-189 SMART
coiled coil region 354 383 N/A INTRINSIC
coiled coil region 419 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130037
SMART Domains Protein: ENSMUSP00000116509
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
SCOP:d1cm5a_ 5 88 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132653
Predicted Effect probably benign
Transcript: ENSMUST00000173744
SMART Domains Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
low complexity region 365 406 N/A INTRINSIC
low complexity region 462 473 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
low complexity region 498 526 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 99% (114/115)
MGI Phenotype PHENOTYPE: Nullizygous mutations result in embryonic lethality, failure to synthesize cilia in the embryonic node, randomization of left-right asymmetry and structural abnormalities of the neural tube, pericardium, branchial arches, and somites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,267 (GRCm39) H9L possibly damaging Het
Aars1 T A 8: 111,779,083 (GRCm39) I739K possibly damaging Het
Abcb1b T A 5: 8,875,661 (GRCm39) H611Q probably damaging Het
Acod1 T A 14: 103,292,643 (GRCm39) I389K possibly damaging Het
Adgre1 T A 17: 57,709,841 (GRCm39) L166* probably null Het
Akap1 C A 11: 88,730,450 (GRCm39) probably null Het
Akna T A 4: 63,312,872 (GRCm39) Q417L probably damaging Het
Anxa7 T C 14: 20,512,678 (GRCm39) D285G probably damaging Het
Arhgap1 T C 2: 91,500,514 (GRCm39) Y308H probably damaging Het
Arhgef10 A C 8: 15,004,446 (GRCm39) R360S probably damaging Het
Arhgef11 T A 3: 87,636,500 (GRCm39) probably null Het
Arid3a A G 10: 79,766,899 (GRCm39) T58A possibly damaging Het
Atosb A T 4: 43,036,441 (GRCm39) S97T probably benign Het
Atp6v0a4 G A 6: 38,059,016 (GRCm39) R256C probably damaging Het
Camsap3 C A 8: 3,648,772 (GRCm39) S163R probably benign Het
Ccdc110 A T 8: 46,395,663 (GRCm39) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm39) probably null Het
Ccnt1 T C 15: 98,462,960 (GRCm39) M71V probably benign Het
Celsr2 T A 3: 108,304,570 (GRCm39) Y2263F probably benign Het
Cfap36 A T 11: 29,196,514 (GRCm39) probably null Het
Cfap69 T C 5: 5,663,734 (GRCm39) T498A probably benign Het
Chadl T C 15: 81,578,213 (GRCm39) D6G probably benign Het
Clstn3 T A 6: 124,436,812 (GRCm39) I132F possibly damaging Het
Cnot4 A G 6: 35,028,212 (GRCm39) V468A probably benign Het
Crmp1 T G 5: 37,422,617 (GRCm39) D141E possibly damaging Het
Crtc1 A G 8: 70,844,509 (GRCm39) probably null Het
Cryz C A 3: 154,317,189 (GRCm39) A136D probably damaging Het
Dph6 A G 2: 114,353,525 (GRCm39) V221A probably benign Het
Dst A T 1: 34,314,862 (GRCm39) N4267Y probably damaging Het
Duox2 T A 2: 122,127,167 (GRCm39) D170V possibly damaging Het
Ecm2 A T 13: 49,677,922 (GRCm39) K403* probably null Het
Eif3d T C 15: 77,843,924 (GRCm39) N474S probably benign Het
Elf1 T C 14: 79,802,965 (GRCm39) L106P probably damaging Het
Exoc4 G C 6: 33,273,857 (GRCm39) probably null Het
F12 T C 13: 55,574,130 (GRCm39) D34G probably benign Het
Fam228b A T 12: 4,798,117 (GRCm39) F200Y probably damaging Het
Fgl2 T A 5: 21,580,661 (GRCm39) D334E possibly damaging Het
Fras1 T A 5: 96,924,481 (GRCm39) F3641I probably benign Het
Gabrb2 T G 11: 42,484,674 (GRCm39) Y244D probably damaging Het
Gcc1 A T 6: 28,421,268 (GRCm39) D16E probably benign Het
Gga3 C A 11: 115,477,915 (GRCm39) G558* probably null Het
Glt1d1 T C 5: 127,740,391 (GRCm39) probably benign Het
Gorasp2 T C 2: 70,521,067 (GRCm39) S346P possibly damaging Het
Hcn4 T C 9: 58,767,582 (GRCm39) S1048P probably damaging Het
Henmt1 T A 3: 108,861,105 (GRCm39) probably benign Het
Htt A C 5: 35,066,006 (GRCm39) K3060N probably damaging Het
Ibsp C T 5: 104,450,024 (GRCm39) L8F probably damaging Het
Kif27 A T 13: 58,451,378 (GRCm39) D983E probably damaging Het
Kif3c A C 12: 3,417,090 (GRCm39) K370N possibly damaging Het
Loxhd1 T C 18: 77,468,256 (GRCm39) probably benign Het
Maz A T 7: 126,623,758 (GRCm39) D74E probably damaging Het
Med21 T C 6: 146,551,732 (GRCm39) S128P probably damaging Het
Mms19 A C 19: 41,943,607 (GRCm39) M374R probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mrpl3 T C 9: 104,932,872 (GRCm39) V111A probably benign Het
Mtfr2 T A 10: 20,224,158 (GRCm39) Y31N probably damaging Het
Myh3 C T 11: 66,990,498 (GRCm39) R1677C probably damaging Het
Mynn T A 3: 30,661,230 (GRCm39) *61K probably null Het
Neb A C 2: 52,060,479 (GRCm39) M2286R possibly damaging Het
Ngf A T 3: 102,427,661 (GRCm39) R137* probably null Het
Nr1i3 T A 1: 171,041,982 (GRCm39) V22E probably damaging Het
Nxpe5 T C 5: 138,249,566 (GRCm39) V452A probably damaging Het
Oas1e C A 5: 120,933,395 (GRCm39) A57S probably benign Het
Or11g27 A T 14: 50,771,151 (GRCm39) K94M probably damaging Het
Or14j10 T A 17: 37,935,024 (GRCm39) R167S probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pax3 A G 1: 78,080,141 (GRCm39) L415P probably damaging Het
Pcnt G T 10: 76,205,655 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,672 (GRCm39) D183E possibly damaging Het
Pglyrp1 G T 7: 18,623,313 (GRCm39) G120V probably damaging Het
Pnp2 T A 14: 51,196,990 (GRCm39) Y25* probably null Het
Pomt1 T A 2: 32,142,023 (GRCm39) H584Q possibly damaging Het
Ppp1r12a A G 10: 108,089,193 (GRCm39) N611D possibly damaging Het
Prkcq G A 2: 11,288,643 (GRCm39) G532E probably benign Het
Prl6a1 A T 13: 27,501,980 (GRCm39) I116F probably damaging Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Pwp1 A G 10: 85,721,480 (GRCm39) T361A possibly damaging Het
Rab4a A T 8: 124,554,081 (GRCm39) H5L probably damaging Het
Raet1e C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Ramp1 T C 1: 91,124,592 (GRCm39) I51T possibly damaging Het
Raph1 G T 1: 60,565,058 (GRCm39) T143K probably benign Het
Rhpn1 A G 15: 75,581,088 (GRCm39) E110G possibly damaging Het
Rnf168 A T 16: 32,117,287 (GRCm39) T283S possibly damaging Het
Ros1 T A 10: 51,977,857 (GRCm39) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,797,430 (GRCm39) Q223R probably null Het
Rtp4 G T 16: 23,431,679 (GRCm39) M70I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Satb1 T A 17: 52,047,374 (GRCm39) Q647L probably benign Het
Sec31b T C 19: 44,508,847 (GRCm39) probably benign Het
Sgo1 C T 17: 53,986,691 (GRCm39) D167N probably damaging Het
Slco1a8 T C 6: 141,936,147 (GRCm39) T313A probably benign Het
Smchd1 T C 17: 71,738,231 (GRCm39) I545V probably benign Het
St6gal1 G T 16: 23,139,891 (GRCm39) A21S probably damaging Het
Stard9 C A 2: 120,530,300 (GRCm39) L2186I probably damaging Het
Sun2 T A 15: 79,611,810 (GRCm39) probably benign Het
Taf4 G A 2: 179,565,884 (GRCm39) T849M probably damaging Het
Tdrd5 A T 1: 156,129,473 (GRCm39) I79N probably damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm39) I72V probably damaging Het
Tnxb T A 17: 34,928,542 (GRCm39) V2652E possibly damaging Het
Trim30a C T 7: 104,078,559 (GRCm39) probably null Het
Tshz3 A G 7: 36,469,534 (GRCm39) T508A probably damaging Het
Ttc21b A G 2: 66,053,908 (GRCm39) L757P probably damaging Het
Ubtd2 A C 11: 32,449,223 (GRCm39) probably null Het
Ubtd2 G T 11: 32,449,224 (GRCm39) probably null Het
Vmn1r218 C T 13: 23,321,225 (GRCm39) Q111* probably null Het
Vmn2r75 G A 7: 85,797,309 (GRCm39) Q835* probably null Het
Vwa8 T A 14: 79,331,179 (GRCm39) M1229K probably benign Het
Wdr76 C T 2: 121,349,932 (GRCm39) R111C probably damaging Het
Xcr1 T A 9: 123,684,940 (GRCm39) D274V possibly damaging Het
Ypel5 C T 17: 73,153,332 (GRCm39) T12I probably benign Het
Other mutations in Kif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Kif3a APN 11 53,484,350 (GRCm39) missense possibly damaging 0.53
IGL01862:Kif3a APN 11 53,461,368 (GRCm39) missense possibly damaging 0.63
IGL02411:Kif3a APN 11 53,461,525 (GRCm39) missense probably damaging 1.00
PIT4453001:Kif3a UTSW 11 53,469,941 (GRCm39) missense probably benign 0.16
R0049:Kif3a UTSW 11 53,481,560 (GRCm39) splice site probably benign
R0078:Kif3a UTSW 11 53,469,812 (GRCm39) missense probably benign 0.22
R0131:Kif3a UTSW 11 53,477,743 (GRCm39) missense possibly damaging 0.53
R1079:Kif3a UTSW 11 53,461,408 (GRCm39) missense possibly damaging 0.87
R1168:Kif3a UTSW 11 53,489,139 (GRCm39) missense probably damaging 1.00
R1554:Kif3a UTSW 11 53,489,154 (GRCm39) missense probably damaging 0.98
R1817:Kif3a UTSW 11 53,489,561 (GRCm39) missense probably damaging 1.00
R2022:Kif3a UTSW 11 53,461,408 (GRCm39) missense probably damaging 1.00
R2964:Kif3a UTSW 11 53,469,757 (GRCm39) missense probably damaging 1.00
R3861:Kif3a UTSW 11 53,488,805 (GRCm39) missense probably benign 0.33
R3928:Kif3a UTSW 11 53,461,441 (GRCm39) missense probably benign 0.02
R4553:Kif3a UTSW 11 53,469,745 (GRCm39) missense possibly damaging 0.93
R5158:Kif3a UTSW 11 53,479,578 (GRCm39) missense probably benign
R5437:Kif3a UTSW 11 53,489,553 (GRCm39) missense probably damaging 0.99
R6621:Kif3a UTSW 11 53,469,957 (GRCm39) missense probably damaging 1.00
R7028:Kif3a UTSW 11 53,477,733 (GRCm39) nonsense probably null
R7384:Kif3a UTSW 11 53,469,681 (GRCm39) missense probably damaging 0.99
R8182:Kif3a UTSW 11 53,485,133 (GRCm39) nonsense probably null
R8493:Kif3a UTSW 11 53,489,627 (GRCm39) nonsense probably null
R8971:Kif3a UTSW 11 53,474,189 (GRCm39) missense probably damaging 1.00
R9261:Kif3a UTSW 11 53,484,248 (GRCm39) small deletion probably benign
R9577:Kif3a UTSW 11 53,475,231 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTGCTTGTCTTACCGAACGAAC -3'
(R):5'- GCAGGAAGTGACAACCCGACTAATG -3'

Sequencing Primer
(F):5'- TTACCGAACGAACATGCTTTC -3'
(R):5'- ACTGACTCTTGGCCTTCAAAAG -3'
Posted On 2013-05-23