Incidental Mutation 'R2124:Kif1b'
ID 229647
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 040127-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149260776-149392150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149306753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 869 (D869G)
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: D823G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: D823G

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
AA Change: D869G

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: D869G

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 noncoding transcript
Transcript: ENSMUST00000133526
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign 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
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
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'- TAGGAACTGAACCTGGAACATC -3'
(R):5'- GCATTAAGTGACACGAGCAACC -3'

Sequencing Primer
(F):5'- AACATCAGGGGTGAGCTCCATC -3'
(R):5'- CTCTTAAAATACCTGGCACGCAG -3'
Posted On 2014-09-17