Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Kif1b'

21557

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

038414-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0129 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149345658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 394 (I394T)

Ref Sequence

ENSEMBL: ENSMUSP00000056754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030806] [ENSMUST00000055647] [ENSMUST00000060537]

AlphaFold

Q60575

Predicted Effect

probably benign
Transcript: ENSMUST00000030806

SMART Domains

Protein: ENSMUSP00000030806
Gene: ENSMUSG00000063077

Domain	Start	End	E-Value	Type
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	660	N/A	INTRINSIC
coiled coil region	814	858	N/A	INTRINSIC
low complexity region	889	902	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055647

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077

Domain	Start	End	E-Value	Type
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: I394T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: I394T

Domain	Start	End	E-Value	Type
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: ENSMUST00000150230

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,920,265 (GRCm39)	D31G	probably damaging	Het
Actr2	A	G	11: 20,050,939 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,618,862 (GRCm39)	C764R	probably benign	Het
Ago4	A	C	4: 126,410,976 (GRCm39)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,336,395 (GRCm39)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,474,163 (GRCm39)	L26P	probably damaging	Het
Appl1	A	T	14: 26,650,600 (GRCm39)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,635,370 (GRCm39)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,308,744 (GRCm39)	E47G	probably damaging	Het
Birc6	A	G	17: 74,835,755 (GRCm39)	D70G	probably benign	Het
Bola2	G	A	7: 126,295,731 (GRCm39)	V56M	probably damaging	Het
Cd300lg	A	G	11: 101,944,918 (GRCm39)		probably null	Het
Cdc42bpb	A	G	12: 111,271,393 (GRCm39)		probably benign	Het
Ceacam20	A	G	7: 19,710,185 (GRCm39)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,391,847 (GRCm39)	M662V	probably benign	Het
Chd3	C	A	11: 69,239,327 (GRCm39)	E1607*	probably null	Het
Chtf18	A	T	17: 25,946,285 (GRCm39)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm39)	N200S	probably benign	Het
Csmd1	G	A	8: 16,129,956 (GRCm39)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,412,350 (GRCm39)	T204I	probably damaging	Het
Dennd4a	T	C	9: 64,800,576 (GRCm39)	S905P	probably damaging	Het
Dhx57	T	C	17: 80,546,343 (GRCm39)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,480,441 (GRCm39)		probably benign	Het
Dnhd1	G	T	7: 105,370,131 (GRCm39)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,838,466 (GRCm39)	C1120R	probably benign	Het
Efs	C	T	14: 55,154,680 (GRCm39)	A427T	probably damaging	Het
Erich6	T	C	3: 58,531,799 (GRCm39)	E399G	probably damaging	Het
Espl1	A	G	15: 102,225,083 (GRCm39)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,690,120 (GRCm39)	S830P	probably damaging	Het
Herc1	T	A	9: 66,355,357 (GRCm39)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,326,637 (GRCm39)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,546,503 (GRCm39)	T1026I	probably benign	Het
Ldlrap1	A	C	4: 134,484,733 (GRCm39)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,580,403 (GRCm39)	V155I	probably damaging	Het
Limch1	A	T	5: 67,116,933 (GRCm39)	N116I	probably damaging	Het
Lonp2	C	T	8: 87,361,518 (GRCm39)	R232C	probably damaging	Het
Lrch1	C	A	14: 75,073,186 (GRCm39)	C151F	probably benign	Het
Lrig3	A	G	10: 125,842,812 (GRCm39)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,327,068 (GRCm39)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,513,494 (GRCm39)	K501N	probably damaging	Het
Mdc1	G	T	17: 36,165,337 (GRCm39)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,312,914 (GRCm39)		probably benign	Het
Mul1	T	C	4: 138,165,032 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,901,411 (GRCm39)		probably benign	Het
Notch1	G	C	2: 26,350,470 (GRCm39)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,053,936 (GRCm39)	L2200M	probably benign	Het
Odad3	G	T	9: 21,904,848 (GRCm39)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,774,667 (GRCm39)		probably null	Het
Or12k5	G	A	2: 36,895,057 (GRCm39)	R190*	probably null	Het
Or5ae2	T	A	7: 84,506,196 (GRCm39)	F206L	probably benign	Het
Or8a1b	T	C	9: 37,623,236 (GRCm39)	Y113C	probably damaging	Het
Plekhs1	T	C	19: 56,465,722 (GRCm39)		probably null	Het
Ppm1h	G	A	10: 122,777,260 (GRCm39)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,345,207 (GRCm39)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,509,164 (GRCm39)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,119,990 (GRCm39)	T159I	probably benign	Het
Rab20	A	G	8: 11,504,415 (GRCm39)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,574,616 (GRCm39)	M1R	probably null	Het
Skp2	A	G	15: 9,125,280 (GRCm39)	S100P	probably damaging	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sspo	A	T	6: 48,432,352 (GRCm39)	T684S	probably benign	Het
Syt3	A	G	7: 44,042,782 (GRCm39)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,610,903 (GRCm39)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,750,800 (GRCm39)		probably benign	Het
Tsfm	A	G	10: 126,866,339 (GRCm39)	L74P	probably benign	Het
Ttn	G	C	2: 76,564,609 (GRCm39)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,629,252 (GRCm39)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,005,330 (GRCm39)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,706,441 (GRCm39)	S212T	probably benign	Het

Other mutations in Kif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGAGAACTGGACTTTCCACCCGAC -3'
(R):5'- TGGCTTAGCATGACAAGGCTCG -3'

Sequencing Primer
(F):5'- GACTCTGTCTGGGATTTCCCTG -3'
(R):5'- CAGTTCTTTAGAAAGAAGTTCTTGCC -3'

Posted On

2013-04-11