Incidental Mutation 'R4830:Kif1a'
ID 374491
Institutional Source Beutler Lab
Gene Symbol Kif1a
Ensembl Gene ENSMUSG00000014602
Gene Name kinesin family member 1A
Synonyms N-3 kinesin, C630002N23Rik, Kns1, LOC381283, ATSV
MMRRC Submission 042446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R4830 (G1)
Quality Score 130
Status Validated
Chromosome 1
Chromosomal Location 92943186-93029673 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 92948931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086819] [ENSMUST00000112958] [ENSMUST00000171556] [ENSMUST00000171796] [ENSMUST00000190723]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000086819
SMART Domains Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602

DomainStartEndE-ValueType
KISc 3 362 1.05e-177 SMART
low complexity region 411 429 N/A INTRINSIC
FHA 524 581 1.39e-8 SMART
coiled coil region 634 688 N/A INTRINSIC
low complexity region 693 706 N/A INTRINSIC
low complexity region 762 778 N/A INTRINSIC
Pfam:KIF1B 814 861 6.4e-13 PFAM
Pfam:DUF3694 1157 1305 1.8e-47 PFAM
low complexity region 1420 1444 N/A INTRINSIC
low complexity region 1541 1549 N/A INTRINSIC
PH 1584 1683 1.52e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112958
SMART Domains Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602

DomainStartEndE-ValueType
KISc 3 362 1.05e-177 SMART
low complexity region 402 420 N/A INTRINSIC
FHA 515 572 1.39e-8 SMART
coiled coil region 625 679 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
low complexity region 753 769 N/A INTRINSIC
Pfam:KIF1B 805 851 3.9e-15 PFAM
Pfam:DUF3694 1148 1304 5e-40 PFAM
low complexity region 1420 1444 N/A INTRINSIC
low complexity region 1541 1549 N/A INTRINSIC
PH 1584 1683 1.52e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171556
SMART Domains Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602

DomainStartEndE-ValueType
KISc 3 362 1.05e-177 SMART
low complexity region 402 420 N/A INTRINSIC
FHA 515 572 1.39e-8 SMART
coiled coil region 625 679 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
low complexity region 753 769 N/A INTRINSIC
Pfam:KIF1B 805 852 2.7e-13 PFAM
Pfam:DUF3694 1148 1296 8.4e-48 PFAM
low complexity region 1411 1435 N/A INTRINSIC
low complexity region 1532 1540 N/A INTRINSIC
PH 1575 1674 1.52e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171796
SMART Domains Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602

DomainStartEndE-ValueType
KISc 3 362 1.05e-177 SMART
low complexity region 402 420 N/A INTRINSIC
FHA 515 572 1.39e-8 SMART
coiled coil region 625 679 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
low complexity region 753 769 N/A INTRINSIC
Pfam:KIF1B 805 852 6.4e-13 PFAM
Pfam:DUF3694 1148 1304 1.8e-46 PFAM
low complexity region 1419 1443 N/A INTRINSIC
low complexity region 1540 1548 N/A INTRINSIC
PH 1583 1682 1.52e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188136
Predicted Effect probably null
Transcript: ENSMUST00000190723
SMART Domains Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602

DomainStartEndE-ValueType
KISc 3 362 5.2e-180 SMART
low complexity region 411 429 N/A INTRINSIC
coiled coil region 438 471 N/A INTRINSIC
FHA 524 581 6.9e-11 SMART
coiled coil region 634 688 N/A INTRINSIC
low complexity region 693 706 N/A INTRINSIC
low complexity region 762 778 N/A INTRINSIC
Pfam:KIF1B 814 861 4e-10 PFAM
low complexity region 885 900 N/A INTRINSIC
coiled coil region 901 929 N/A INTRINSIC
internal_repeat_1 938 957 5.9e-5 PROSPERO
Pfam:DUF3694 1250 1398 1.1e-44 PFAM
low complexity region 1513 1537 N/A INTRINSIC
low complexity region 1634 1642 N/A INTRINSIC
PH 1677 1776 6.9e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190854
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Ccnt1 A T 15: 98,441,332 (GRCm39) N645K probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nlrp4e A T 7: 23,036,165 (GRCm39) N673Y probably benign Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Serpinb3a C T 1: 106,976,316 (GRCm39) E122K probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc25a12 A T 2: 71,127,149 (GRCm39) V344E probably damaging Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Tnpo3 T C 6: 29,568,937 (GRCm39) T472A probably benign Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R probably damaging Het
Other mutations in Kif1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Kif1a APN 1 92,982,656 (GRCm39) missense probably damaging 1.00
IGL01574:Kif1a APN 1 93,010,062 (GRCm39) missense probably damaging 1.00
IGL01637:Kif1a APN 1 92,967,575 (GRCm39) missense possibly damaging 0.95
IGL01895:Kif1a APN 1 92,953,455 (GRCm39) missense possibly damaging 0.65
IGL02215:Kif1a APN 1 92,948,271 (GRCm39) missense probably benign 0.05
IGL02571:Kif1a APN 1 92,948,178 (GRCm39) critical splice donor site probably null
IGL02734:Kif1a APN 1 92,990,280 (GRCm39) missense probably damaging 1.00
IGL02752:Kif1a APN 1 92,967,569 (GRCm39) missense possibly damaging 0.92
IGL02990:Kif1a APN 1 92,966,985 (GRCm39) missense probably damaging 1.00
IGL03298:Kif1a APN 1 92,993,903 (GRCm39) missense probably damaging 1.00
IGL03309:Kif1a APN 1 92,986,579 (GRCm39) nonsense probably null
IGL03354:Kif1a APN 1 92,987,957 (GRCm39) missense probably damaging 1.00
asbestos UTSW 1 92,950,227 (GRCm39) missense probably damaging 1.00
chrysolite UTSW 1 93,002,670 (GRCm39) splice site probably benign
osmium UTSW 1 92,986,532 (GRCm39) splice site probably benign
R4538_Kif1a_397 UTSW 1 93,004,769 (GRCm39) missense probably damaging 1.00
1mM(1):Kif1a UTSW 1 93,004,790 (GRCm39) missense probably benign 0.00
IGL03046:Kif1a UTSW 1 93,010,128 (GRCm39) missense probably damaging 1.00
PIT4508001:Kif1a UTSW 1 92,974,451 (GRCm39) missense probably damaging 1.00
R0025:Kif1a UTSW 1 92,970,080 (GRCm39) missense probably damaging 1.00
R0115:Kif1a UTSW 1 92,974,500 (GRCm39) splice site probably benign
R0243:Kif1a UTSW 1 92,969,815 (GRCm39) missense probably damaging 1.00
R0270:Kif1a UTSW 1 92,982,164 (GRCm39) splice site probably benign
R0335:Kif1a UTSW 1 92,980,288 (GRCm39) splice site probably benign
R0380:Kif1a UTSW 1 92,983,753 (GRCm39) critical splice acceptor site probably null
R0472:Kif1a UTSW 1 92,946,719 (GRCm39) missense probably damaging 0.99
R0501:Kif1a UTSW 1 92,983,967 (GRCm39) missense probably damaging 1.00
R0538:Kif1a UTSW 1 92,971,360 (GRCm39) missense probably damaging 0.99
R0628:Kif1a UTSW 1 92,947,605 (GRCm39) missense probably damaging 1.00
R0848:Kif1a UTSW 1 92,947,620 (GRCm39) missense probably damaging 1.00
R1110:Kif1a UTSW 1 92,951,175 (GRCm39) splice site probably benign
R1132:Kif1a UTSW 1 92,983,743 (GRCm39) missense probably damaging 0.99
R1387:Kif1a UTSW 1 92,983,672 (GRCm39) splice site probably benign
R1466:Kif1a UTSW 1 92,982,651 (GRCm39) missense possibly damaging 0.68
R1466:Kif1a UTSW 1 92,982,651 (GRCm39) missense possibly damaging 0.68
R1544:Kif1a UTSW 1 93,002,670 (GRCm39) splice site probably benign
R1569:Kif1a UTSW 1 92,986,532 (GRCm39) splice site probably benign
R1802:Kif1a UTSW 1 92,993,871 (GRCm39) missense probably damaging 1.00
R1917:Kif1a UTSW 1 92,946,753 (GRCm39) missense possibly damaging 0.95
R1919:Kif1a UTSW 1 92,946,753 (GRCm39) missense possibly damaging 0.95
R1999:Kif1a UTSW 1 92,988,517 (GRCm39) missense probably damaging 0.98
R2000:Kif1a UTSW 1 92,982,051 (GRCm39) missense probably damaging 0.99
R2276:Kif1a UTSW 1 92,996,199 (GRCm39) splice site probably benign
R2307:Kif1a UTSW 1 93,006,491 (GRCm39) missense probably damaging 1.00
R2919:Kif1a UTSW 1 92,974,464 (GRCm39) missense probably damaging 1.00
R3440:Kif1a UTSW 1 92,964,575 (GRCm39) missense possibly damaging 0.53
R3441:Kif1a UTSW 1 92,964,575 (GRCm39) missense possibly damaging 0.53
R3618:Kif1a UTSW 1 93,004,765 (GRCm39) missense probably null 1.00
R3957:Kif1a UTSW 1 92,953,416 (GRCm39) missense probably damaging 1.00
R4010:Kif1a UTSW 1 92,950,131 (GRCm39) missense probably benign 0.42
R4013:Kif1a UTSW 1 93,004,014 (GRCm39) missense probably damaging 1.00
R4017:Kif1a UTSW 1 93,004,014 (GRCm39) missense probably damaging 1.00
R4115:Kif1a UTSW 1 92,980,260 (GRCm39) missense probably damaging 1.00
R4386:Kif1a UTSW 1 92,996,272 (GRCm39) missense probably damaging 1.00
R4538:Kif1a UTSW 1 93,004,769 (GRCm39) missense probably damaging 1.00
R4608:Kif1a UTSW 1 92,952,368 (GRCm39) missense possibly damaging 0.81
R4625:Kif1a UTSW 1 92,970,381 (GRCm39) missense probably benign 0.00
R4701:Kif1a UTSW 1 93,006,557 (GRCm39) missense probably damaging 0.99
R4794:Kif1a UTSW 1 92,953,449 (GRCm39) missense probably damaging 1.00
R4903:Kif1a UTSW 1 92,949,456 (GRCm39) missense probably damaging 1.00
R4915:Kif1a UTSW 1 93,002,700 (GRCm39) missense probably benign 0.21
R4918:Kif1a UTSW 1 93,002,700 (GRCm39) missense probably benign 0.21
R4991:Kif1a UTSW 1 93,006,530 (GRCm39) missense probably benign 0.00
R5028:Kif1a UTSW 1 92,982,049 (GRCm39) missense possibly damaging 0.68
R5051:Kif1a UTSW 1 93,003,876 (GRCm39) splice site probably null
R5073:Kif1a UTSW 1 92,950,227 (GRCm39) missense probably damaging 1.00
R5103:Kif1a UTSW 1 92,974,418 (GRCm39) missense probably damaging 1.00
R5314:Kif1a UTSW 1 92,946,220 (GRCm39) missense probably damaging 1.00
R5481:Kif1a UTSW 1 92,987,966 (GRCm39) missense probably benign 0.01
R5510:Kif1a UTSW 1 92,969,414 (GRCm39) missense possibly damaging 0.93
R5610:Kif1a UTSW 1 92,953,450 (GRCm39) missense probably damaging 1.00
R5643:Kif1a UTSW 1 92,983,489 (GRCm39) missense probably damaging 0.98
R5808:Kif1a UTSW 1 92,970,420 (GRCm39) missense probably damaging 0.99
R6027:Kif1a UTSW 1 92,953,365 (GRCm39) missense probably benign 0.33
R6056:Kif1a UTSW 1 92,952,370 (GRCm39) missense probably damaging 1.00
R6077:Kif1a UTSW 1 92,982,618 (GRCm39) missense possibly damaging 0.54
R6120:Kif1a UTSW 1 92,952,296 (GRCm39) splice site probably null
R6126:Kif1a UTSW 1 92,947,621 (GRCm39) missense probably damaging 1.00
R6130:Kif1a UTSW 1 92,964,623 (GRCm39) missense probably damaging 1.00
R6255:Kif1a UTSW 1 92,947,705 (GRCm39) missense probably damaging 1.00
R6301:Kif1a UTSW 1 92,982,663 (GRCm39) nonsense probably null
R6326:Kif1a UTSW 1 93,004,048 (GRCm39) missense probably damaging 1.00
R6594:Kif1a UTSW 1 92,949,035 (GRCm39) missense probably benign 0.00
R6653:Kif1a UTSW 1 93,005,420 (GRCm39) missense probably damaging 1.00
R6791:Kif1a UTSW 1 92,993,859 (GRCm39) missense probably damaging 1.00
R6853:Kif1a UTSW 1 92,967,524 (GRCm39) missense possibly damaging 0.47
R7022:Kif1a UTSW 1 92,993,820 (GRCm39) missense probably benign 0.31
R7059:Kif1a UTSW 1 92,974,551 (GRCm39) intron probably benign
R7103:Kif1a UTSW 1 93,005,507 (GRCm39) missense probably damaging 1.00
R7248:Kif1a UTSW 1 92,969,305 (GRCm39) missense probably benign 0.35
R7259:Kif1a UTSW 1 93,001,532 (GRCm39) nonsense probably null
R7424:Kif1a UTSW 1 92,982,039 (GRCm39) missense possibly damaging 0.89
R7659:Kif1a UTSW 1 92,974,542 (GRCm39) intron probably benign
R7681:Kif1a UTSW 1 92,982,666 (GRCm39) missense probably benign
R7976:Kif1a UTSW 1 92,967,496 (GRCm39) missense probably damaging 1.00
R8056:Kif1a UTSW 1 92,982,423 (GRCm39) intron probably benign
R8420:Kif1a UTSW 1 92,950,141 (GRCm39) missense probably benign
R8994:Kif1a UTSW 1 92,983,457 (GRCm39) missense possibly damaging 0.77
R9016:Kif1a UTSW 1 92,953,395 (GRCm39) missense probably damaging 1.00
R9206:Kif1a UTSW 1 92,979,202 (GRCm39) missense probably damaging 0.99
R9246:Kif1a UTSW 1 93,005,501 (GRCm39) missense probably damaging 0.98
R9252:Kif1a UTSW 1 93,002,776 (GRCm39) missense probably damaging 1.00
R9388:Kif1a UTSW 1 93,000,029 (GRCm39) critical splice donor site probably null
R9413:Kif1a UTSW 1 92,949,019 (GRCm39) missense probably benign 0.00
R9612:Kif1a UTSW 1 92,953,416 (GRCm39) missense probably damaging 1.00
R9621:Kif1a UTSW 1 92,983,445 (GRCm39) missense probably benign
R9625:Kif1a UTSW 1 93,000,766 (GRCm39) missense probably benign 0.42
R9694:Kif1a UTSW 1 92,950,173 (GRCm39) missense probably benign
Z1176:Kif1a UTSW 1 92,950,213 (GRCm39) missense probably damaging 1.00
Z1176:Kif1a UTSW 1 92,949,038 (GRCm39) missense probably damaging 0.97
Z1176:Kif1a UTSW 1 92,983,419 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTGTGAGCTAGCTGGACAG -3'
(R):5'- CTGGTAGGAATAGGCACAGTTG -3'

Sequencing Primer
(F):5'- TAAGTCCCATGTTGTGCC -3'
(R):5'- TGTGAGGAGAAACCCCATCGTC -3'
Posted On 2016-03-16