Incidental Mutation 'R2129:Kif1b'
ID 227821
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 040132-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2129 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149260776-149392150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149272097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 1568 (S1568L)
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: S1522L

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: S1522L

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 possibly damaging
Transcript: ENSMUST00000060537
AA Change: S1568L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: S1568L

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 unknown
Transcript: ENSMUST00000139123
AA Change: S246L
SMART Domains Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: S246L

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 noncoding transcript
Transcript: ENSMUST00000150853
Meta Mutation Damage Score 0.2112 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (91/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abhd14a A T 9: 106,318,064 (GRCm39) L125Q probably null Het
Abhd17b T A 19: 21,658,413 (GRCm39) probably null Het
Abo G A 2: 26,736,586 (GRCm39) T61I probably benign Het
Adamts15 T C 9: 30,815,799 (GRCm39) T686A probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Anxa2 A T 9: 69,383,410 (GRCm39) Y75F possibly damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Bri3bp T A 5: 125,528,735 (GRCm39) L48* probably null Het
Car7 T A 8: 105,275,605 (GRCm39) C185S possibly damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chst10 A G 1: 38,904,776 (GRCm39) Y203H probably benign Het
Clca3a1 T C 3: 144,722,526 (GRCm39) D282G probably damaging Het
Coq3 T G 4: 21,900,342 (GRCm39) S190A probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Cygb A G 11: 116,540,668 (GRCm39) L106P probably damaging Het
Dab2 G T 15: 6,365,864 (GRCm39) E87* probably null Het
Dcst1 T A 3: 89,264,852 (GRCm39) I299F probably damaging Het
Dennd4a T G 9: 64,813,256 (GRCm39) probably null Het
Depdc7 A G 2: 104,558,518 (GRCm39) S168P probably benign Het
Dicer1 G A 12: 104,688,290 (GRCm39) T429I probably damaging Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Dock2 T C 11: 34,618,242 (GRCm39) M125V probably damaging Het
Dync2h1 A G 9: 7,175,289 (GRCm39) S107P possibly damaging Het
Emb T C 13: 117,404,082 (GRCm39) V278A probably damaging Het
Firrm T C 1: 163,794,026 (GRCm39) Y518C probably damaging Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Galm T C 17: 80,490,647 (GRCm39) I268T probably benign Het
Gm5581 A C 6: 131,145,247 (GRCm39) noncoding transcript Het
Gpr6 G A 10: 40,947,168 (GRCm39) S138L possibly damaging Het
Hesx1 C A 14: 26,722,802 (GRCm39) H42Q possibly damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Kctd19 T C 8: 106,111,804 (GRCm39) T31A probably damaging Het
Krtap19-3 T C 16: 88,674,863 (GRCm39) probably benign Het
Lin28a T A 4: 133,745,465 (GRCm39) I43F probably benign Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 A G 4: 123,262,608 (GRCm39) probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Megf8 T C 7: 25,030,140 (GRCm39) L425P probably damaging Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Mybpc1 T G 10: 88,387,314 (GRCm39) T466P probably damaging Het
Myo10 T C 15: 25,781,885 (GRCm39) Y1127H probably benign Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Myo9b T C 8: 71,786,343 (GRCm39) Y670H probably damaging Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Neurod2 G T 11: 98,218,414 (GRCm39) A250E possibly damaging Het
Nherf1 A T 11: 115,067,270 (GRCm39) I174F probably damaging Het
Nipsnap1 C A 11: 4,838,932 (GRCm39) N119K probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Or10ab4 T A 7: 107,655,111 (GRCm39) N307K probably benign Het
Or11h23 A G 14: 50,948,093 (GRCm39) Y102C probably damaging Het
Or2t48 T C 11: 58,420,437 (GRCm39) D125G probably damaging Het
Pald1 A G 10: 61,184,085 (GRCm39) probably null Het
Palld T C 8: 62,330,395 (GRCm39) S161G probably benign Het
Paqr9 T A 9: 95,443,122 (GRCm39) F371I probably benign Het
Pear1 A T 3: 87,665,666 (GRCm39) C120* probably null Het
Pla2g4e A T 2: 120,013,292 (GRCm39) F343I probably damaging Het
Plxdc2 A T 2: 16,516,902 (GRCm39) Y61F probably benign Het
Polh G A 17: 46,499,014 (GRCm39) Q234* probably null Het
Prkce T A 17: 86,803,463 (GRCm39) M454K possibly damaging Het
Proser1 C A 3: 53,385,366 (GRCm39) T416K probably benign Het
Prr14l G T 5: 32,989,172 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rp1l1 T A 14: 64,266,415 (GRCm39) V667D possibly damaging Het
Rpp40 A T 13: 36,082,604 (GRCm39) C256* probably null Het
Rps6ka5 A G 12: 100,644,797 (GRCm39) L51P probably damaging Het
Rtp2 C T 16: 23,746,457 (GRCm39) C78Y probably damaging Het
Ryr3 A G 2: 112,508,715 (GRCm39) probably benign Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc6a21 T G 7: 44,932,197 (GRCm39) probably null Het
Smo A G 6: 29,757,313 (GRCm39) Y476C probably damaging Het
Tacr3 A T 3: 134,560,621 (GRCm39) T187S probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tasp1 T C 2: 139,890,164 (GRCm39) K71E possibly damaging Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Tmem41a T C 16: 21,764,911 (GRCm39) probably null Het
Tmem63a A G 1: 180,793,105 (GRCm39) N459D probably benign Het
Ube2k A G 5: 65,752,269 (GRCm39) T151A probably damaging Het
Ubr1 T C 2: 120,773,034 (GRCm39) E402G probably benign Het
Ulk4 T A 9: 120,981,248 (GRCm39) I897F probably benign Het
Usp30 A G 5: 114,249,224 (GRCm39) E176G probably damaging Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Wdr17 C T 8: 55,085,416 (GRCm39) V1236M probably damaging Het
Zbtb32 T C 7: 30,290,918 (GRCm39) K126E possibly damaging Het
Zeb1 A T 18: 5,767,681 (GRCm39) S731C 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
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'- CCTGTGAAGGTAAGGACTGACC -3'
(R):5'- ACGATGTTCCTCTTGTCAGG -3'

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