Incidental Mutation 'R8694:Kif1b'
ID 668557
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 068548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8694 (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 G at 149305024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 967 (S967P)
Ref Sequence ENSEMBL: ENSMUSP00000056754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055647] [ENSMUST00000060537]
AlphaFold Q60575
Predicted Effect probably benign
Transcript: ENSMUST00000055647
AA Change: S921P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: S921P

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 damaging
Transcript: ENSMUST00000060537
AA Change: S967P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: S967P

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: 99.3%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,642,950 (GRCm39) L277P probably damaging Het
Adgrb3 C A 1: 25,865,472 (GRCm39) D124Y probably damaging Het
Afdn T C 17: 14,108,641 (GRCm39) V1403A probably benign Het
Afg3l1 T C 8: 124,227,973 (GRCm39) V586A probably damaging Het
Ajm1 A G 2: 25,469,831 (GRCm39) S27P possibly damaging Het
Aloxe3 A G 11: 69,033,677 (GRCm39) D597G probably damaging Het
Asb15 T C 6: 24,570,666 (GRCm39) V548A probably benign Het
Atp6v1a C T 16: 43,921,991 (GRCm39) R388Q probably damaging Het
Btbd8 A G 5: 107,658,635 (GRCm39) D1735G probably benign Het
C130074G19Rik G A 1: 184,615,184 (GRCm39) T2M probably damaging Het
Ccdc187 T C 2: 26,165,505 (GRCm39) T884A probably benign Het
Cdk5rap1 G A 2: 154,195,148 (GRCm39) R356* probably null Het
Cebpz A T 17: 79,234,334 (GRCm39) H725Q probably damaging Het
Celsr2 T C 3: 108,314,176 (GRCm39) D1283G probably damaging Het
Cldn11 G T 3: 31,217,239 (GRCm39) V136F probably damaging Het
Cpxm2 T C 7: 131,681,783 (GRCm39) N249D probably benign Het
Ctsz T C 2: 174,280,072 (GRCm39) N67D probably benign Het
Drd3 A C 16: 43,643,075 (GRCm39) H405P probably damaging Het
F2rl2 T C 13: 95,837,339 (GRCm39) V128A probably benign Het
Fh1 C T 1: 175,448,126 (GRCm39) P43S probably benign Het
Fndc7 C T 3: 108,779,622 (GRCm39) W307* probably null Het
Gmip G T 8: 70,270,485 (GRCm39) V732L probably benign Het
Heatr4 A G 12: 84,027,038 (GRCm39) F73S probably damaging Het
Iqcf4 T C 9: 106,448,111 (GRCm39) probably benign Het
Itln1 T A 1: 171,359,279 (GRCm39) Q67L probably damaging Het
Jak1 A G 4: 101,013,704 (GRCm39) V1008A probably damaging Het
Kcnh1 A T 1: 191,921,031 (GRCm39) probably benign Het
Kcnu1 T G 8: 26,342,101 (GRCm39) probably benign Het
Klra17 A G 6: 129,851,780 (GRCm39) S31P probably benign Het
Kmt2d C T 15: 98,742,615 (GRCm39) E4182K unknown Het
Lama5 T C 2: 179,822,677 (GRCm39) D2825G probably damaging Het
Lmtk2 T C 5: 144,108,566 (GRCm39) V336A probably damaging Het
Mad1l1 A G 5: 140,074,438 (GRCm39) I584T probably benign Het
Magea1 T A X: 153,871,787 (GRCm39) N313I possibly damaging Het
Mapt T C 11: 104,189,440 (GRCm39) S153P probably benign Het
Myo1e T C 9: 70,291,172 (GRCm39) Y988H probably benign Het
Ndufc2 A T 7: 97,049,403 (GRCm39) N3I probably benign Het
Nos2 T A 11: 78,836,515 (GRCm39) V531D possibly damaging Het
Npbwr1 T A 1: 5,986,617 (GRCm39) Y299F probably damaging Het
Or4a39 A G 2: 89,237,378 (GRCm39) L15P probably damaging Het
Or4a70 A G 2: 89,324,171 (GRCm39) Y162H possibly damaging Het
Or52n20 G T 7: 104,320,296 (GRCm39) C129F probably damaging Het
Or8h10 G A 2: 86,808,591 (GRCm39) P183L probably damaging Het
Pp2d1 T C 17: 53,815,191 (GRCm39) Y511C probably benign Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Setbp1 T C 18: 78,901,516 (GRCm39) K717R probably damaging Het
Slc25a11 T C 11: 70,535,630 (GRCm39) M303V probably benign Het
Spesp1 A T 9: 62,180,242 (GRCm39) M222K probably benign Het
Tmem132d A G 5: 127,869,495 (GRCm39) M613T probably benign Het
Ugt2a2 A G 5: 87,612,029 (GRCm39) F294L probably damaging Het
Usp34 A G 11: 23,434,161 (GRCm39) T3246A Het
Zfp750 T A 11: 121,404,456 (GRCm39) I140F possibly damaging Het
Zscan4e A T 7: 11,041,574 (GRCm39) H127Q possibly 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
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
R9227:Kif1b UTSW 4 149,322,357 (GRCm39) missense probably damaging 1.00
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'- ATTTGGGTCAAGCCGTCCTC -3'
(R):5'- TGTGTGAATGAGCGCCTTGC -3'

Sequencing Primer
(F):5'- CCAGGTGGTCTTCATAAGCTGC -3'
(R):5'- GACCGCACACCCTCCCC -3'
Posted On 2021-04-30