Incidental Mutation 'R5610:Kif1a'
ID 440271
Institutional Source Beutler Lab
Gene Symbol Kif1a
Ensembl Gene ENSMUSG00000014602
Gene Name kinesin family member 1A
Synonyms N-3 kinesin, C630002N23Rik, Kns1, LOC381283, ATSV
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R5610 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92943186-93029673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92953450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 1245 (Y1245N)
Ref Sequence ENSEMBL: ENSMUSP00000128432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086819] [ENSMUST00000112958] [ENSMUST00000171556] [ENSMUST00000171796] [ENSMUST00000190723]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000086819
AA Change: Y1246N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
AA Change: Y1246N

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 damaging
Transcript: ENSMUST00000112958
AA Change: Y1246N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
AA Change: Y1246N

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 damaging
Transcript: ENSMUST00000171556
AA Change: Y1237N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
AA Change: Y1237N

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 damaging
Transcript: ENSMUST00000171796
AA Change: Y1245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
AA Change: Y1245N

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 possibly damaging
Transcript: ENSMUST00000190723
AA Change: Y1339N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
AA Change: Y1339N

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,156 (GRCm39) D247G possibly damaging Het
1700123K08Rik A G 5: 138,562,403 (GRCm39) probably null Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Accsl C A 2: 93,692,118 (GRCm39) probably null Het
Adad2 C T 8: 120,341,500 (GRCm39) R171C probably benign Het
Adgrv1 A C 13: 81,669,236 (GRCm39) L2440R probably damaging Het
Antxr1 A G 6: 87,232,845 (GRCm39) V239A probably damaging Het
Aoc1l2 G A 6: 48,907,953 (GRCm39) V318I probably benign Het
Arhgap28 G A 17: 68,203,235 (GRCm39) Q73* probably null Het
Arrdc5 C T 17: 56,604,846 (GRCm39) R147H probably benign Het
Ash1l T C 3: 88,930,492 (GRCm39) Y1990H probably damaging Het
Bank1 T C 3: 135,772,148 (GRCm39) E494G probably damaging Het
Bicral A T 17: 47,119,418 (GRCm39) I701N probably damaging Het
Bod1l T C 5: 41,979,217 (GRCm39) Y699C probably damaging Het
C3ar1 T G 6: 122,827,537 (GRCm39) T227P probably benign Het
Ccr3 C A 9: 123,829,518 (GRCm39) D284E probably damaging Het
Cdh13 T C 8: 119,578,462 (GRCm39) V163A possibly damaging Het
CK137956 C T 4: 127,840,440 (GRCm39) probably null Het
Cltc T C 11: 86,612,472 (GRCm39) S529G probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Ddx11 A G 17: 66,457,021 (GRCm39) K783E probably damaging Het
Dnah3 T A 7: 119,538,288 (GRCm39) probably null Het
Eef2k A G 7: 120,486,005 (GRCm39) H408R probably benign Het
Esr1 A G 10: 4,951,221 (GRCm39) K533R probably damaging Het
Fat1 T A 8: 45,406,109 (GRCm39) Y953* probably null Het
Fosl1 T A 19: 5,505,133 (GRCm39) probably null Het
Frmd4b A G 6: 97,283,752 (GRCm39) M373T probably benign Het
Gm1968 A G 16: 29,777,557 (GRCm39) noncoding transcript Het
Gpr26 T C 7: 131,568,694 (GRCm39) V13A possibly damaging Het
Gtf3c1 T C 7: 125,303,117 (GRCm39) N106S possibly damaging Het
Itgb8 T G 12: 119,134,429 (GRCm39) E546A probably damaging Het
Itpr3 C T 17: 27,337,540 (GRCm39) T2450M probably benign Het
Klrb1f G A 6: 129,031,335 (GRCm39) probably null Het
Lars1 A G 18: 42,390,156 (GRCm39) L37P probably benign Het
Lnpk T C 2: 74,378,369 (GRCm39) T131A probably benign Het
Mob3c C T 4: 115,690,878 (GRCm39) T156I probably benign Het
Nadk T A 4: 155,668,628 (GRCm39) W100R probably damaging Het
Npy6r A T 18: 44,409,061 (GRCm39) I161F probably benign Het
Or4c107 A C 2: 88,789,170 (GRCm39) D120A probably damaging Het
Or6c204 G A 10: 129,022,426 (GRCm39) T288I probably damaging Het
Pcdhga3 A G 18: 37,808,276 (GRCm39) E243G possibly damaging Het
Pdss2 A G 10: 43,315,828 (GRCm39) T361A probably benign Het
Pkd1l2 G T 8: 117,769,059 (GRCm39) Q1198K probably benign Het
Prdx1 T A 4: 116,550,124 (GRCm39) I102N probably damaging Het
Prss1 G A 6: 41,438,147 (GRCm39) V25I probably benign Het
Pspc1 A G 14: 57,015,388 (GRCm39) Y77H probably damaging Het
Rnf5 T C 17: 34,820,712 (GRCm39) probably benign Het
Ryr1 C A 7: 28,811,399 (GRCm39) M235I probably benign Het
Sec24c A G 14: 20,741,893 (GRCm39) Y776C probably damaging Het
Sharpin A G 15: 76,234,253 (GRCm39) probably null Het
Slc12a4 C A 8: 106,676,845 (GRCm39) V482L possibly damaging Het
Slc38a1 C T 15: 96,514,022 (GRCm39) probably null Het
Smtn G T 11: 3,479,582 (GRCm39) T495N probably damaging Het
Sncaip A G 18: 53,001,991 (GRCm39) T171A probably benign Het
Sprr2e T C 3: 92,260,399 (GRCm39) *77R probably null Het
Syngap1 T A 17: 27,178,754 (GRCm39) D443E possibly damaging Het
Taldo1 T C 7: 140,972,205 (GRCm39) V24A probably damaging Het
Tfap2c T A 2: 172,391,778 (GRCm39) N8K probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Tubgcp3 T C 8: 12,689,577 (GRCm39) Y563C probably damaging Het
Ubr1 T A 2: 120,722,593 (GRCm39) D1342V probably benign Het
Usp7 C T 16: 8,534,374 (GRCm39) probably null Het
Wbp1 C T 6: 83,097,216 (GRCm39) G75D probably damaging Het
Zfp180 G T 7: 23,804,315 (GRCm39) V245F probably benign Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp646 T A 7: 127,478,530 (GRCm39) C236S 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
R4830:Kif1a UTSW 1 92,948,931 (GRCm39) splice site probably null
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
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'- CATTCTCTGAGAAGAGAGTGGG -3'
(R):5'- CTGCCAGACAATGAATGGCC -3'

Sequencing Primer
(F):5'- AGAGTGGGGTCCATGGAC -3'
(R):5'- AATGAATGGCCCCACGGTG -3'
Posted On 2016-11-08