Incidental Mutation 'R9227:Kif1b'
ID 699916
Institutional Source Beutler Lab
Gene Symbol Kif1b
Ensembl Gene ENSMUSG00000063077
Gene Name kinesin family member 1B
Synonyms N-3 kinesin, KIF1Bp130, KIF1Bp204, Kif1b beta, Kif1b alpha, D4Mil1e, A530096N05Rik
MMRRC Submission 068984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9227 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 149260776-149392150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 149322357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 854 (M854R)
Ref Sequence ENSEMBL: ENSMUSP00000030806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030806] [ENSMUST00000055647] [ENSMUST00000060537]
AlphaFold Q60575
Predicted Effect probably damaging
Transcript: ENSMUST00000030806
AA Change: M854R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030806
Gene: ENSMUSG00000063077
AA Change: M854R

DomainStartEndE-ValueType
KISc 3 356 5.85e-176 SMART
low complexity region 389 404 N/A INTRINSIC
FHA 509 566 1.61e-4 SMART
coiled coil region 626 660 N/A INTRINSIC
coiled coil region 814 858 N/A INTRINSIC
low complexity region 889 902 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055647
SMART Domains Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077

DomainStartEndE-ValueType
KISc 3 356 5.85e-176 SMART
low complexity region 389 404 N/A INTRINSIC
FHA 509 566 1.61e-4 SMART
coiled coil region 626 685 N/A INTRINSIC
Pfam:KIF1B 799 846 9.7e-13 PFAM
internal_repeat_1 901 933 7.01e-7 PROSPERO
low complexity region 1165 1179 N/A INTRINSIC
Pfam:DUF3694 1220 1368 1.1e-46 PFAM
low complexity region 1444 1461 N/A INTRINSIC
low complexity region 1479 1507 N/A INTRINSIC
low complexity region 1573 1591 N/A INTRINSIC
PH 1656 1755 1.02e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060537
SMART Domains Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077

DomainStartEndE-ValueType
KISc 3 362 7.61e-175 SMART
low complexity region 390 400 N/A INTRINSIC
low complexity region 432 450 N/A INTRINSIC
FHA 555 612 1.61e-4 SMART
coiled coil region 672 731 N/A INTRINSIC
Pfam:KIF1B 845 892 7.1e-15 PFAM
internal_repeat_1 947 979 4.76e-7 PROSPERO
low complexity region 1211 1225 N/A INTRINSIC
Pfam:DUF3694 1266 1413 1.1e-40 PFAM
low complexity region 1490 1507 N/A INTRINSIC
low complexity region 1525 1553 N/A INTRINSIC
low complexity region 1619 1637 N/A INTRINSIC
PH 1702 1801 1.02e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A T 10: 77,157,626 (GRCm39) F274I probably damaging Het
Adprhl1 C T 8: 13,271,974 (GRCm39) V1595I probably benign Het
Anxa6 A G 11: 54,898,694 (GRCm39) V160A probably benign Het
Appl1 T C 14: 26,645,692 (GRCm39) E706G unknown Het
Arhgap21 T C 2: 20,860,469 (GRCm39) T1313A possibly damaging Het
Armc2 T C 10: 41,823,935 (GRCm39) Y511C probably damaging Het
Atp1a1 A T 3: 101,499,750 (GRCm39) C111S probably damaging Het
Atp6v0d2 T A 4: 19,878,374 (GRCm39) M300L probably benign Het
C1ra T C 6: 124,493,739 (GRCm39) C164R probably damaging Het
Cacna1h T C 17: 25,599,856 (GRCm39) Y1659C probably damaging Het
Catsperb T C 12: 101,516,053 (GRCm39) I563T probably benign Het
Cblif G A 19: 11,737,748 (GRCm39) W386* probably null Het
Cd180 TA TAA 13: 102,841,514 (GRCm39) probably null Het
Cd55b A T 1: 130,350,619 (GRCm39) L26* probably null Het
Cdc42bpa A G 1: 179,933,638 (GRCm39) N759S probably benign Het
Cenpj C T 14: 56,802,176 (GRCm39) E130K possibly damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Chd7 C T 4: 8,805,272 (GRCm39) S777L probably benign Het
Chrm3 C A 13: 9,928,479 (GRCm39) V186L probably benign Het
Clrn2 A G 5: 45,621,283 (GRCm39) T226A probably damaging Het
Col3a1 C T 1: 45,383,138 (GRCm39) P1071S unknown Het
Dytn A T 1: 63,686,611 (GRCm39) V353D probably benign Het
Egfem1 G A 3: 29,411,317 (GRCm39) E155K probably benign Het
Eif3m A T 2: 104,831,705 (GRCm39) M285K probably damaging Het
Fam135b T C 15: 71,335,856 (GRCm39) K446R probably benign Het
Fam186a T C 15: 99,853,384 (GRCm39) T119A unknown Het
Frmd4a T C 2: 4,612,844 (GRCm39) S1025P possibly damaging Het
Fubp3 A G 2: 31,502,564 (GRCm39) H449R probably benign Het
Fyco1 A T 9: 123,648,211 (GRCm39) I1241N probably damaging Het
Gabpb2 A T 3: 95,111,998 (GRCm39) M77K probably damaging Het
Gfpt1 T A 6: 87,027,906 (GRCm39) I4K probably damaging Het
Glis1 T C 4: 107,425,327 (GRCm39) S313P probably benign Het
Golga4 T A 9: 118,385,941 (GRCm39) M1021K possibly damaging Het
Grid2ip G A 5: 143,359,194 (GRCm39) R270Q probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ifit1 A G 19: 34,625,236 (GRCm39) E124G possibly damaging Het
Ifna14 T C 4: 88,489,752 (GRCm39) D95G probably benign Het
Ilkap A C 1: 91,314,937 (GRCm39) I142S probably benign Het
Inpp5e C T 2: 26,288,616 (GRCm39) R588H probably damaging Het
Lcn6 A T 2: 25,570,107 (GRCm39) K91M probably damaging Het
Lpin1 A T 12: 16,588,483 (GRCm39) S902R unknown Het
Lrig1 C A 6: 94,607,113 (GRCm39) C160F probably damaging Het
Mapk13 T C 17: 28,994,532 (GRCm39) I141T probably damaging Het
Mapkapk3 A G 9: 107,137,354 (GRCm39) L175P probably damaging Het
Micall2 A G 5: 139,701,827 (GRCm39) V472A unknown Het
Mmp15 T C 8: 96,092,959 (GRCm39) F113L probably benign Het
Msh2 T G 17: 88,026,717 (GRCm39) S738A probably benign Het
Myb C T 10: 21,030,612 (GRCm39) D62N probably benign Het
Myo1f T C 17: 33,795,424 (GRCm39) V53A probably damaging Het
Ncf1 A T 5: 134,250,718 (GRCm39) N367K probably benign Het
Nim1k C A 13: 120,174,118 (GRCm39) V259F probably damaging Het
Nme8 T G 13: 19,874,384 (GRCm39) I139L probably benign Het
Odam T C 5: 88,034,457 (GRCm39) F46L probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or7a42 G A 10: 78,791,929 (GRCm39) D297N possibly damaging Het
Pcare A G 17: 72,057,217 (GRCm39) L820P probably damaging Het
Pcdha9 A G 18: 37,131,954 (GRCm39) E341G probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Poglut1 A T 16: 38,355,168 (GRCm39) D219E possibly damaging Het
Racgap1 A G 15: 99,534,078 (GRCm39) S145P possibly damaging Het
Rasgef1a C T 6: 118,066,110 (GRCm39) T441I possibly damaging Het
Rbm6 T C 9: 107,664,498 (GRCm39) T844A probably benign Het
Rbmyf9 T G Y: 3,774,819 (GRCm39) D5E probably damaging Het
Rell1 T C 5: 64,097,105 (GRCm39) probably benign Het
Ripk3 A G 14: 56,023,303 (GRCm39) F134S probably benign Het
Rnf169 T C 7: 99,574,699 (GRCm39) D632G possibly damaging Het
Sclt1 A T 3: 41,665,631 (GRCm39) W146R probably benign Het
Setd5 T C 6: 113,098,755 (GRCm39) F796S possibly damaging Het
Slc24a5 G T 2: 124,922,568 (GRCm39) G110V probably damaging Het
Slc30a10 T A 1: 185,187,391 (GRCm39) M44K probably damaging Het
Slc38a10 T A 11: 119,996,781 (GRCm39) D772V probably benign Het
Thy1 C T 9: 43,958,004 (GRCm39) T44I probably damaging Het
Tinagl1 G T 4: 130,061,271 (GRCm39) S324Y probably benign Het
Tll2 T A 19: 41,093,436 (GRCm39) Y477F probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmco6 T C 18: 36,874,719 (GRCm39) L402P probably damaging Het
Tnrc18 G T 5: 142,773,392 (GRCm39) A479D Het
Uba7 T C 9: 107,853,001 (GRCm39) V12A possibly damaging Het
Usp5 T C 6: 124,795,599 (GRCm39) D598G probably damaging Het
Vmn1r158 C T 7: 22,489,469 (GRCm39) V247I probably benign Het
Vpreb1b A G 16: 17,798,801 (GRCm39) N96D probably damaging Het
Zcchc17 A T 4: 130,230,928 (GRCm39) M87K probably damaging Het
Other mutations in Kif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Kif1b APN 4 149,305,059 (GRCm39) missense probably damaging 1.00
IGL01943:Kif1b APN 4 149,299,362 (GRCm39) critical splice donor site probably null
IGL02240:Kif1b APN 4 149,330,871 (GRCm39) missense probably damaging 1.00
IGL02414:Kif1b APN 4 149,283,771 (GRCm39) missense probably damaging 0.96
IGL02490:Kif1b APN 4 149,288,665 (GRCm39) missense probably benign
IGL02501:Kif1b APN 4 149,299,433 (GRCm39) missense probably damaging 1.00
IGL02833:Kif1b APN 4 149,330,821 (GRCm39) missense probably damaging 1.00
IGL02852:Kif1b APN 4 149,375,785 (GRCm39) missense probably damaging 1.00
IGL02900:Kif1b APN 4 149,265,266 (GRCm39) missense possibly damaging 0.81
IGL03287:Kif1b APN 4 149,299,438 (GRCm39) missense possibly damaging 0.67
IGL03412:Kif1b APN 4 149,359,396 (GRCm39) missense probably benign 0.00
PIT4305001:Kif1b UTSW 4 149,305,249 (GRCm39) critical splice acceptor site probably null
R0005:Kif1b UTSW 4 149,266,384 (GRCm39) missense probably damaging 1.00
R0044:Kif1b UTSW 4 149,348,058 (GRCm39) splice site probably benign
R0044:Kif1b UTSW 4 149,348,058 (GRCm39) splice site probably benign
R0129:Kif1b UTSW 4 149,345,658 (GRCm39) missense probably benign
R0180:Kif1b UTSW 4 149,298,116 (GRCm39) missense probably damaging 1.00
R0288:Kif1b UTSW 4 149,283,795 (GRCm39) missense probably damaging 1.00
R0360:Kif1b UTSW 4 149,347,186 (GRCm39) missense probably damaging 1.00
R0383:Kif1b UTSW 4 149,286,969 (GRCm39) missense probably damaging 1.00
R0398:Kif1b UTSW 4 149,288,688 (GRCm39) missense possibly damaging 0.89
R0403:Kif1b UTSW 4 149,266,424 (GRCm39) nonsense probably null
R0445:Kif1b UTSW 4 149,272,466 (GRCm39) missense probably benign 0.01
R1466:Kif1b UTSW 4 149,307,709 (GRCm39) missense probably damaging 0.99
R1466:Kif1b UTSW 4 149,307,709 (GRCm39) missense probably damaging 0.99
R1681:Kif1b UTSW 4 149,279,958 (GRCm39) critical splice acceptor site probably null
R1728:Kif1b UTSW 4 149,272,179 (GRCm39) missense probably damaging 0.99
R1840:Kif1b UTSW 4 149,272,589 (GRCm39) missense probably damaging 1.00
R1874:Kif1b UTSW 4 149,272,089 (GRCm39) missense probably benign
R1915:Kif1b UTSW 4 149,351,673 (GRCm39) missense probably damaging 1.00
R2106:Kif1b UTSW 4 149,272,097 (GRCm39) missense possibly damaging 0.92
R2124:Kif1b UTSW 4 149,306,753 (GRCm39) missense probably benign 0.08
R2126:Kif1b UTSW 4 149,272,097 (GRCm39) missense possibly damaging 0.92
R2127:Kif1b UTSW 4 149,272,097 (GRCm39) missense possibly damaging 0.92
R2128:Kif1b UTSW 4 149,272,097 (GRCm39) missense possibly damaging 0.92
R2129:Kif1b UTSW 4 149,272,097 (GRCm39) missense possibly damaging 0.92
R2146:Kif1b UTSW 4 149,268,766 (GRCm39) missense probably damaging 0.99
R2255:Kif1b UTSW 4 149,359,454 (GRCm39) missense probably damaging 1.00
R2392:Kif1b UTSW 4 149,305,077 (GRCm39) missense possibly damaging 0.93
R2883:Kif1b UTSW 4 149,322,105 (GRCm39) missense possibly damaging 0.78
R2981:Kif1b UTSW 4 149,304,998 (GRCm39) critical splice donor site probably null
R3038:Kif1b UTSW 4 149,297,790 (GRCm39) missense probably benign 0.02
R3616:Kif1b UTSW 4 149,346,740 (GRCm39) splice site probably benign
R3935:Kif1b UTSW 4 149,321,617 (GRCm39) missense probably benign 0.00
R4347:Kif1b UTSW 4 149,331,691 (GRCm39) missense probably damaging 1.00
R4423:Kif1b UTSW 4 149,298,562 (GRCm39) missense probably damaging 0.99
R4637:Kif1b UTSW 4 149,283,768 (GRCm39) missense probably damaging 0.97
R4745:Kif1b UTSW 4 149,322,339 (GRCm39) nonsense probably null
R4807:Kif1b UTSW 4 149,332,378 (GRCm39) intron probably benign
R5618:Kif1b UTSW 4 149,354,346 (GRCm39) missense possibly damaging 0.94
R5644:Kif1b UTSW 4 149,322,939 (GRCm39) missense probably damaging 0.96
R5683:Kif1b UTSW 4 149,306,718 (GRCm39) missense probably damaging 1.00
R5696:Kif1b UTSW 4 149,358,306 (GRCm39) splice site probably null
R6022:Kif1b UTSW 4 149,282,989 (GRCm39) missense probably benign 0.01
R6048:Kif1b UTSW 4 149,348,086 (GRCm39) missense probably damaging 1.00
R6137:Kif1b UTSW 4 149,322,883 (GRCm39) missense possibly damaging 0.47
R6139:Kif1b UTSW 4 149,321,989 (GRCm39) missense possibly damaging 0.88
R6171:Kif1b UTSW 4 149,342,505 (GRCm39) missense probably damaging 1.00
R6250:Kif1b UTSW 4 149,298,100 (GRCm39) missense probably benign 0.00
R6423:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6424:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6425:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6443:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6460:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6462:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6463:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6469:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6470:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6471:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6472:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6504:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6536:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6537:Kif1b UTSW 4 149,277,053 (GRCm39) missense probably benign 0.16
R6668:Kif1b UTSW 4 149,297,864 (GRCm39) missense probably benign 0.09
R6698:Kif1b UTSW 4 149,359,413 (GRCm39) missense probably damaging 0.99
R7065:Kif1b UTSW 4 149,286,982 (GRCm39) missense possibly damaging 0.46
R7222:Kif1b UTSW 4 149,309,614 (GRCm39) missense probably damaging 1.00
R7342:Kif1b UTSW 4 149,298,547 (GRCm39) missense possibly damaging 0.94
R7720:Kif1b UTSW 4 149,266,812 (GRCm39) missense probably benign 0.01
R7744:Kif1b UTSW 4 149,321,532 (GRCm39) missense possibly damaging 0.83
R7797:Kif1b UTSW 4 149,321,844 (GRCm39) missense probably benign
R7829:Kif1b UTSW 4 149,305,447 (GRCm39) splice site probably null
R7869:Kif1b UTSW 4 149,268,833 (GRCm39) missense probably benign 0.01
R7878:Kif1b UTSW 4 149,299,454 (GRCm39) missense probably damaging 0.98
R7980:Kif1b UTSW 4 149,354,378 (GRCm39) missense probably damaging 1.00
R8047:Kif1b UTSW 4 149,299,379 (GRCm39) missense probably damaging 1.00
R8237:Kif1b UTSW 4 149,275,642 (GRCm39) missense probably benign 0.10
R8243:Kif1b UTSW 4 149,288,724 (GRCm39) missense probably benign
R8252:Kif1b UTSW 4 149,358,262 (GRCm39) missense probably damaging 1.00
R8342:Kif1b UTSW 4 149,306,805 (GRCm39) missense probably damaging 0.96
R8460:Kif1b UTSW 4 149,272,077 (GRCm39) missense possibly damaging 0.93
R8462:Kif1b UTSW 4 149,266,797 (GRCm39) missense probably benign 0.05
R8496:Kif1b UTSW 4 149,277,068 (GRCm39) nonsense probably null
R8687:Kif1b UTSW 4 149,345,620 (GRCm39) nonsense probably null
R8694:Kif1b UTSW 4 149,305,024 (GRCm39) missense probably damaging 0.98
R8842:Kif1b UTSW 4 149,338,196 (GRCm39) missense probably damaging 0.98
R8883:Kif1b UTSW 4 149,361,342 (GRCm39) missense probably benign
R8971:Kif1b UTSW 4 149,332,273 (GRCm39) missense probably damaging 1.00
R8994:Kif1b UTSW 4 149,279,939 (GRCm39) missense
R9002:Kif1b UTSW 4 149,275,712 (GRCm39) missense probably damaging 0.96
R9231:Kif1b UTSW 4 149,275,652 (GRCm39) missense possibly damaging 0.94
R9450:Kif1b UTSW 4 149,322,467 (GRCm39) missense probably benign 0.01
R9478:Kif1b UTSW 4 149,345,616 (GRCm39) critical splice donor site probably null
R9571:Kif1b UTSW 4 149,305,098 (GRCm39) missense probably damaging 1.00
R9644:Kif1b UTSW 4 149,375,836 (GRCm39) missense probably damaging 1.00
RF008:Kif1b UTSW 4 149,336,195 (GRCm39) splice site probably null
X0009:Kif1b UTSW 4 149,331,721 (GRCm39) missense probably damaging 1.00
X0062:Kif1b UTSW 4 149,359,462 (GRCm39) missense probably damaging 1.00
Z1176:Kif1b UTSW 4 149,350,755 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AAAGCTGGATCCCCGTTCATC -3'
(R):5'- AATGAGCGAGACTCTTGGAG -3'

Sequencing Primer
(F):5'- TTCATCAGCTGGGAAACGC -3'
(R):5'- CAGGGATGTCTGGGACACTG -3'
Posted On 2022-02-07