Incidental Mutation 'R2392:Kif1b'
ID 247800
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 040360-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2392 (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 149305077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 949 (T949M)
Ref Sequence ENSEMBL: ENSMUSP00000056754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055647] [ENSMUST00000060537]
AlphaFold Q60575
Predicted Effect possibly damaging
Transcript: ENSMUST00000055647
AA Change: T903M

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: T903M

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: T949M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: T949M

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 0.0621 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (53/55)
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
Abca12 A T 1: 71,297,264 (GRCm39) S2409T probably damaging Het
Acap2 A G 16: 30,958,458 (GRCm39) F120S probably damaging Het
Akr1c6 A G 13: 4,484,477 (GRCm39) probably null Het
Bptf C A 11: 106,963,573 (GRCm39) A1874S probably damaging Het
Ccnl1 A G 3: 65,856,173 (GRCm39) V244A probably damaging Het
Cenpe T G 3: 134,953,874 (GRCm39) L1628R probably damaging Het
Cfap54 A G 10: 92,860,873 (GRCm39) probably null Het
Chchd7 T A 4: 3,943,381 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crybg2 G T 4: 133,799,925 (GRCm39) V362L probably benign Het
Ddx11 T A 17: 66,456,968 (GRCm39) V791E probably damaging Het
Disp1 G A 1: 182,868,731 (GRCm39) P1230S probably benign Het
Elp5 T C 11: 69,865,928 (GRCm39) H116R probably benign Het
Epb42 T C 2: 120,860,468 (GRCm39) E177G possibly damaging Het
F13a1 T A 13: 37,127,971 (GRCm39) I336F possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcsk A G 8: 111,616,356 (GRCm39) M453T probably benign Het
Hacd2 A T 16: 34,926,748 (GRCm39) E249V probably benign Het
Hnrnpf C A 6: 117,901,829 (GRCm39) A371D possibly damaging Het
Jmjd1c A G 10: 67,065,683 (GRCm39) T1703A probably damaging Het
Kcnj13 G A 1: 87,314,622 (GRCm39) T200I possibly damaging Het
Klhl35 G A 7: 99,123,031 (GRCm39) A552T possibly damaging Het
Krt74 A G 15: 101,665,236 (GRCm39) noncoding transcript Het
Krtap14 T A 16: 88,622,597 (GRCm39) probably null Het
Lrrc45 A G 11: 120,610,365 (GRCm39) N492S probably benign Het
Lrrcc1 T A 3: 14,601,580 (GRCm39) N114K probably damaging Het
Mfsd2b T C 12: 4,915,164 (GRCm39) D375G possibly damaging Het
Mgat4a A G 1: 37,537,785 (GRCm39) L44P probably damaging Het
Mttp A C 3: 137,800,782 (GRCm39) D774E probably damaging Het
Myo5a T C 9: 75,116,521 (GRCm39) V1554A probably benign Het
Nes C T 3: 87,883,250 (GRCm39) A503V probably benign Het
Nme8 A G 13: 19,873,113 (GRCm39) probably null Het
Nr4a1 A G 15: 101,172,075 (GRCm39) D583G possibly damaging Het
Or12d17 A G 17: 37,777,310 (GRCm39) Y71C probably damaging Het
Or5k14 A G 16: 58,692,797 (GRCm39) S239P probably damaging Het
Pnpla8 T A 12: 44,358,287 (GRCm39) L746I probably damaging Het
Ppp1r7 A T 1: 93,282,063 (GRCm39) I205F probably benign Het
Psd4 C A 2: 24,284,679 (GRCm39) P181Q probably damaging Het
Ripor2 G A 13: 24,890,206 (GRCm39) V694I probably benign Het
Scn10a A G 9: 119,456,268 (GRCm39) S1185P possibly damaging Het
Sec23b T A 2: 144,427,507 (GRCm39) probably null Het
Slfn2 A G 11: 82,956,154 (GRCm39) N12S possibly damaging Het
Slfn4 A G 11: 83,076,248 (GRCm39) K38R possibly damaging Het
Smarca2 G T 19: 26,618,050 (GRCm39) probably null Het
Taar4 A G 10: 23,837,172 (GRCm39) T261A possibly damaging Het
Tbl2 A G 5: 135,185,368 (GRCm39) D159G probably benign Het
Tmem120a T C 5: 135,770,892 (GRCm39) E55G probably damaging Het
Ttc21b A G 2: 66,037,794 (GRCm39) probably null Het
Vill A T 9: 118,896,628 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,487,130 (GRCm39) M511K probably damaging Het
Vmn2r81 A T 10: 79,110,516 (GRCm39) D543V probably damaging Het
Wdr95 A G 5: 149,504,135 (GRCm39) T314A probably benign Het
Zbtb8b A G 4: 129,326,982 (GRCm39) I61T 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
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'- AAGGCCTAGGCTTTCTTTCTAGC -3'
(R):5'- TGGGCATCCTGTTAACCGAC -3'

Sequencing Primer
(F):5'- CTTTCTAGCCAAAATTGCACAGAGG -3'
(R):5'- GGGCATCCTGTTAACCGACTATTC -3'
Posted On 2014-11-11