Incidental Mutation 'R1681:Kif1b'
ID 188489
Institutional Source Beutler Lab
Gene Symbol Kif1b
Ensembl Gene ENSMUSG00000063077
Gene Name kinesin family member 1B
Synonyms Kif1b beta, KIF1Bp130, A530096N05Rik, D4Mil1e, Kif1b alpha, N-3 kinesin, KIF1Bp204
MMRRC Submission 039717-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1681 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 149176319-149307693 bp(-) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 149195501 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000055647] [ENSMUST00000060537]
AlphaFold Q60575
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
Predicted Effect probably null
Transcript: ENSMUST00000139123
SMART Domains Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077

DomainStartEndE-ValueType
Pfam:DUF3694 1 92 4.4e-23 PFAM
low complexity region 169 186 N/A INTRINSIC
low complexity region 204 232 N/A INTRINSIC
low complexity region 298 316 N/A INTRINSIC
PH 381 480 1.02e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000139123
SMART Domains Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077

DomainStartEndE-ValueType
Pfam:DUF3694 1 92 4.4e-23 PFAM
low complexity region 169 186 N/A INTRINSIC
low complexity region 204 232 N/A INTRINSIC
low complexity region 298 316 N/A INTRINSIC
PH 381 480 1.02e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,226,185 (GRCm38) I247N probably damaging Het
Ankle1 G T 8: 71,407,618 (GRCm38) S260I probably benign Het
Aoc2 T C 11: 101,325,192 (GRCm38) S34P probably benign Het
Ap1m1 A C 8: 72,256,122 (GRCm38) I397L possibly damaging Het
Apba1 C A 19: 23,936,561 (GRCm38) D649E probably damaging Het
Aptx C T 4: 40,697,274 (GRCm38) V25M probably benign Het
Arhgef18 G A 8: 3,439,645 (GRCm38) G326R probably damaging Het
Atm A C 9: 53,522,155 (GRCm38) I265S possibly damaging Het
B3galt4 A T 17: 33,951,213 (GRCm38) V17E probably benign Het
Bcl7a T A 5: 123,356,023 (GRCm38) M86K possibly damaging Het
Calhm6 A G 10: 34,127,900 (GRCm38) F4L probably benign Het
Cela3a T A 4: 137,402,684 (GRCm38) probably null Het
Cep85 T A 4: 134,148,728 (GRCm38) K456* probably null Het
Ces1f C A 8: 93,275,414 (GRCm38) A29S probably benign Het
Chd9 A T 8: 90,973,135 (GRCm38) I598F probably damaging Het
Cntln T C 4: 84,947,635 (GRCm38) L176S probably damaging Het
Cntn3 A T 6: 102,170,668 (GRCm38) N909K probably damaging Het
Cntnap5b T C 1: 100,076,107 (GRCm38) S271P probably damaging Het
Col6a3 T A 1: 90,773,502 (GRCm38) H2564L unknown Het
Cyp2b19 C A 7: 26,763,340 (GRCm38) probably null Het
Dapk1 G T 13: 60,718,464 (GRCm38) probably null Het
Dnah7b T A 1: 46,324,712 (GRCm38) Y3497* probably null Het
Duoxa2 T C 2: 122,299,162 (GRCm38) probably null Het
Eny2 T C 15: 44,432,478 (GRCm38) W42R probably damaging Het
Epha3 A G 16: 63,595,728 (GRCm38) V635A probably damaging Het
Fam167b G C 4: 129,578,276 (GRCm38) Q34E probably benign Het
Fancm T C 12: 65,105,656 (GRCm38) M962T probably benign Het
Gimap8 T A 6: 48,656,411 (GRCm38) I388N probably benign Het
Gpaa1 A G 15: 76,331,453 (GRCm38) T22A probably benign Het
Hoxc11 T C 15: 102,955,156 (GRCm38) S211P possibly damaging Het
Hsd17b12 T C 2: 94,033,561 (GRCm38) N312S unknown Het
Idh2 T G 7: 80,099,158 (GRCm38) E125A probably damaging Het
Igdcc4 A G 9: 65,128,795 (GRCm38) Y712C probably damaging Het
Kank1 T C 19: 25,410,304 (GRCm38) V447A possibly damaging Het
Klc4 A T 17: 46,636,770 (GRCm38) D335E probably damaging Het
Klhl33 T A 14: 50,893,077 (GRCm38) D320V probably benign Het
Krt73 A T 15: 101,802,047 (GRCm38) M84K possibly damaging Het
Kti12 T A 4: 108,848,858 (GRCm38) I323N probably damaging Het
Kynu T C 2: 43,679,825 (GRCm38) L373P probably damaging Het
Lats1 T C 10: 7,705,914 (GRCm38) M821T probably damaging Het
Lnx1 A T 5: 74,685,410 (GRCm38) H126Q probably benign Het
Lonrf2 G A 1: 38,813,276 (GRCm38) P165S probably benign Het
Lrrc4b T A 7: 44,461,177 (GRCm38) Y158N probably damaging Het
Lrrc74b C A 16: 17,559,753 (GRCm38) R87L probably damaging Het
Meig1 T C 2: 3,409,274 (GRCm38) D63G probably damaging Het
Mrpl38 G A 11: 116,138,429 (GRCm38) probably benign Het
Mtcl2 T C 2: 157,030,530 (GRCm38) T966A possibly damaging Het
Naip2 C T 13: 100,161,860 (GRCm38) G556D probably benign Het
Naip2 T C 13: 100,161,854 (GRCm38) E558G probably benign Het
Nlrp1a T A 11: 71,142,358 (GRCm38) E3D unknown Het
Nphs2 T A 1: 156,320,898 (GRCm38) D110E probably damaging Het
Nxn T A 11: 76,272,464 (GRCm38) K244N probably benign Het
Oas3 A T 5: 120,769,908 (GRCm38) F322L probably benign Het
Obscn T A 11: 59,103,325 (GRCm38) Y1577F probably damaging Het
Olfr911-ps1 T A 9: 38,524,117 (GRCm38) N128K probably benign Het
Or10ag57 G A 2: 87,388,620 (GRCm38) R305K possibly damaging Het
Or8b50 G A 9: 38,606,948 (GRCm38) G161D probably damaging Het
Or8b52 A G 9: 38,665,320 (GRCm38) Y175H probably benign Het
Or8d2 T C 9: 38,848,513 (GRCm38) M133T probably damaging Het
Panx1 T C 9: 15,007,783 (GRCm38) D260G probably benign Het
Pcdhb15 T C 18: 37,473,813 (GRCm38) Y33H probably damaging Het
Pik3ap1 C A 19: 41,308,529 (GRCm38) V461F probably damaging Het
Plpp3 G A 4: 105,208,805 (GRCm38) probably null Het
Prtn3 A T 10: 79,880,541 (GRCm38) T61S probably benign Het
Psen1 T A 12: 83,724,620 (GRCm38) Y225N probably damaging Het
Rab44 T A 17: 29,140,124 (GRCm38) S429T possibly damaging Het
Ralgapa1 T C 12: 55,762,603 (GRCm38) I462M probably benign Het
Rbfox3 T C 11: 118,505,669 (GRCm38) N105S probably damaging Het
Rbm7 A C 9: 48,489,721 (GRCm38) Y236D possibly damaging Het
Samhd1 T C 2: 157,101,732 (GRCm38) T621A probably benign Het
Samt3 C A X: 86,046,650 (GRCm38) D49E probably benign Het
Sass6 T C 3: 116,603,473 (GRCm38) V26A possibly damaging Het
Scn11a C T 9: 119,804,412 (GRCm38) M418I possibly damaging Het
Scrib T C 15: 76,064,567 (GRCm38) E480G probably damaging Het
Sec24a T G 11: 51,695,189 (GRCm38) T1071P probably damaging Het
Siglecg A C 7: 43,408,941 (GRCm38) E84A probably benign Het
Slc6a17 C T 3: 107,474,386 (GRCm38) V419I probably damaging Het
Ssr2 T C 3: 88,581,042 (GRCm38) M75T possibly damaging Het
Tbc1d22b A G 17: 29,575,177 (GRCm38) T275A possibly damaging Het
Tbx15 T A 3: 99,351,824 (GRCm38) probably null Het
Tll1 A C 8: 64,085,551 (GRCm38) L353R possibly damaging Het
Tlr4 C T 4: 66,841,105 (GRCm38) P712S probably damaging Het
Tmem145 T A 7: 25,314,734 (GRCm38) F424L possibly damaging Het
Tnrc18 T C 5: 142,773,817 (GRCm38) K755E unknown Het
Trmt44 A G 5: 35,569,977 (GRCm38) I298T probably benign Het
Vmn1r69 A G 7: 10,580,252 (GRCm38) V184A probably benign Het
Zfp84 T C 7: 29,777,400 (GRCm38) C506R probably damaging Het
Other mutations in Kif1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Kif1b APN 4 149,220,602 (GRCm38) missense probably damaging 1.00
IGL01943:Kif1b APN 4 149,214,905 (GRCm38) critical splice donor site probably null
IGL02240:Kif1b APN 4 149,246,414 (GRCm38) missense probably damaging 1.00
IGL02414:Kif1b APN 4 149,199,314 (GRCm38) missense probably damaging 0.96
IGL02490:Kif1b APN 4 149,204,208 (GRCm38) missense probably benign
IGL02501:Kif1b APN 4 149,214,976 (GRCm38) missense probably damaging 1.00
IGL02833:Kif1b APN 4 149,246,364 (GRCm38) missense probably damaging 1.00
IGL02852:Kif1b APN 4 149,291,328 (GRCm38) missense probably damaging 1.00
IGL02900:Kif1b APN 4 149,180,809 (GRCm38) missense possibly damaging 0.81
IGL03287:Kif1b APN 4 149,214,981 (GRCm38) missense possibly damaging 0.67
IGL03412:Kif1b APN 4 149,274,939 (GRCm38) missense probably benign 0.00
PIT4305001:Kif1b UTSW 4 149,220,792 (GRCm38) critical splice acceptor site probably null
R0005:Kif1b UTSW 4 149,181,927 (GRCm38) missense probably damaging 1.00
R0044:Kif1b UTSW 4 149,263,601 (GRCm38) splice site probably benign
R0044:Kif1b UTSW 4 149,263,601 (GRCm38) splice site probably benign
R0129:Kif1b UTSW 4 149,261,201 (GRCm38) missense probably benign
R0180:Kif1b UTSW 4 149,213,659 (GRCm38) missense probably damaging 1.00
R0288:Kif1b UTSW 4 149,199,338 (GRCm38) missense probably damaging 1.00
R0360:Kif1b UTSW 4 149,262,729 (GRCm38) missense probably damaging 1.00
R0383:Kif1b UTSW 4 149,202,512 (GRCm38) missense probably damaging 1.00
R0398:Kif1b UTSW 4 149,204,231 (GRCm38) missense possibly damaging 0.89
R0403:Kif1b UTSW 4 149,181,967 (GRCm38) nonsense probably null
R0445:Kif1b UTSW 4 149,188,009 (GRCm38) missense probably benign 0.01
R1466:Kif1b UTSW 4 149,223,252 (GRCm38) missense probably damaging 0.99
R1466:Kif1b UTSW 4 149,223,252 (GRCm38) missense probably damaging 0.99
R1728:Kif1b UTSW 4 149,187,722 (GRCm38) missense probably damaging 0.99
R1840:Kif1b UTSW 4 149,188,132 (GRCm38) missense probably damaging 1.00
R1874:Kif1b UTSW 4 149,187,632 (GRCm38) missense probably benign
R1915:Kif1b UTSW 4 149,267,216 (GRCm38) missense probably damaging 1.00
R2106:Kif1b UTSW 4 149,187,640 (GRCm38) missense possibly damaging 0.92
R2124:Kif1b UTSW 4 149,222,296 (GRCm38) missense probably benign 0.08
R2126:Kif1b UTSW 4 149,187,640 (GRCm38) missense possibly damaging 0.92
R2127:Kif1b UTSW 4 149,187,640 (GRCm38) missense possibly damaging 0.92
R2128:Kif1b UTSW 4 149,187,640 (GRCm38) missense possibly damaging 0.92
R2129:Kif1b UTSW 4 149,187,640 (GRCm38) missense possibly damaging 0.92
R2146:Kif1b UTSW 4 149,184,309 (GRCm38) missense probably damaging 0.99
R2255:Kif1b UTSW 4 149,274,997 (GRCm38) missense probably damaging 1.00
R2392:Kif1b UTSW 4 149,220,620 (GRCm38) missense possibly damaging 0.93
R2883:Kif1b UTSW 4 149,237,648 (GRCm38) missense possibly damaging 0.78
R2981:Kif1b UTSW 4 149,220,541 (GRCm38) critical splice donor site probably null
R3038:Kif1b UTSW 4 149,213,333 (GRCm38) missense probably benign 0.02
R3616:Kif1b UTSW 4 149,262,283 (GRCm38) splice site probably benign
R3935:Kif1b UTSW 4 149,237,160 (GRCm38) missense probably benign 0.00
R4347:Kif1b UTSW 4 149,247,234 (GRCm38) missense probably damaging 1.00
R4423:Kif1b UTSW 4 149,214,105 (GRCm38) missense probably damaging 0.99
R4637:Kif1b UTSW 4 149,199,311 (GRCm38) missense probably damaging 0.97
R4745:Kif1b UTSW 4 149,237,882 (GRCm38) nonsense probably null
R4807:Kif1b UTSW 4 149,247,921 (GRCm38) intron probably benign
R5618:Kif1b UTSW 4 149,269,889 (GRCm38) missense possibly damaging 0.94
R5644:Kif1b UTSW 4 149,238,482 (GRCm38) missense probably damaging 0.96
R5683:Kif1b UTSW 4 149,222,261 (GRCm38) missense probably damaging 1.00
R5696:Kif1b UTSW 4 149,273,849 (GRCm38) splice site probably null
R6022:Kif1b UTSW 4 149,198,532 (GRCm38) missense probably benign 0.01
R6048:Kif1b UTSW 4 149,263,629 (GRCm38) missense probably damaging 1.00
R6137:Kif1b UTSW 4 149,238,426 (GRCm38) missense possibly damaging 0.47
R6139:Kif1b UTSW 4 149,237,532 (GRCm38) missense possibly damaging 0.88
R6171:Kif1b UTSW 4 149,258,048 (GRCm38) missense probably damaging 1.00
R6250:Kif1b UTSW 4 149,213,643 (GRCm38) missense probably benign 0.00
R6423:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6424:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6425:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6443:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6460:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6462:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6463:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6469:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6470:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6471:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6472:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6504:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6536:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6537:Kif1b UTSW 4 149,192,596 (GRCm38) missense probably benign 0.16
R6668:Kif1b UTSW 4 149,213,407 (GRCm38) missense probably benign 0.09
R6698:Kif1b UTSW 4 149,274,956 (GRCm38) missense probably damaging 0.99
R7065:Kif1b UTSW 4 149,202,525 (GRCm38) missense possibly damaging 0.46
R7222:Kif1b UTSW 4 149,225,157 (GRCm38) missense probably damaging 1.00
R7342:Kif1b UTSW 4 149,214,090 (GRCm38) missense possibly damaging 0.94
R7720:Kif1b UTSW 4 149,182,355 (GRCm38) missense probably benign 0.01
R7744:Kif1b UTSW 4 149,237,075 (GRCm38) missense possibly damaging 0.83
R7797:Kif1b UTSW 4 149,237,387 (GRCm38) missense probably benign
R7829:Kif1b UTSW 4 149,220,990 (GRCm38) splice site probably null
R7869:Kif1b UTSW 4 149,184,376 (GRCm38) missense probably benign 0.01
R7878:Kif1b UTSW 4 149,214,997 (GRCm38) missense probably damaging 0.98
R7980:Kif1b UTSW 4 149,269,921 (GRCm38) missense probably damaging 1.00
R8047:Kif1b UTSW 4 149,214,922 (GRCm38) missense probably damaging 1.00
R8237:Kif1b UTSW 4 149,191,185 (GRCm38) missense probably benign 0.10
R8243:Kif1b UTSW 4 149,204,267 (GRCm38) missense probably benign
R8252:Kif1b UTSW 4 149,273,805 (GRCm38) missense probably damaging 1.00
R8342:Kif1b UTSW 4 149,222,348 (GRCm38) missense probably damaging 0.96
R8460:Kif1b UTSW 4 149,187,620 (GRCm38) missense possibly damaging 0.93
R8462:Kif1b UTSW 4 149,182,340 (GRCm38) missense probably benign 0.05
R8496:Kif1b UTSW 4 149,192,611 (GRCm38) nonsense probably null
R8687:Kif1b UTSW 4 149,261,163 (GRCm38) nonsense probably null
R8694:Kif1b UTSW 4 149,220,567 (GRCm38) missense probably damaging 0.98
R8842:Kif1b UTSW 4 149,253,739 (GRCm38) missense probably damaging 0.98
R8883:Kif1b UTSW 4 149,276,885 (GRCm38) missense probably benign
R8971:Kif1b UTSW 4 149,247,816 (GRCm38) missense probably damaging 1.00
R8994:Kif1b UTSW 4 149,195,482 (GRCm38) missense
R9002:Kif1b UTSW 4 149,191,255 (GRCm38) missense probably damaging 0.96
R9227:Kif1b UTSW 4 149,237,900 (GRCm38) missense probably damaging 1.00
R9231:Kif1b UTSW 4 149,191,195 (GRCm38) missense possibly damaging 0.94
R9450:Kif1b UTSW 4 149,238,010 (GRCm38) missense probably benign 0.01
R9478:Kif1b UTSW 4 149,261,159 (GRCm38) critical splice donor site probably null
R9571:Kif1b UTSW 4 149,220,641 (GRCm38) missense probably damaging 1.00
R9644:Kif1b UTSW 4 149,291,379 (GRCm38) missense probably damaging 1.00
RF008:Kif1b UTSW 4 149,251,738 (GRCm38) splice site probably null
X0009:Kif1b UTSW 4 149,247,264 (GRCm38) missense probably damaging 1.00
X0062:Kif1b UTSW 4 149,275,005 (GRCm38) missense probably damaging 1.00
Z1176:Kif1b UTSW 4 149,266,298 (GRCm38) missense possibly damaging 0.89
Predicted Primers
Posted On 2014-05-09