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

Kif1b beta, KIF1Bp130, A530096N05Rik, D4Mil1e, Kif1b alpha, N-3 kinesin, KIF1Bp204

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

149176319-149307693 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149261201 bp (GRCm38)

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: 74,787,194 (GRCm38)	D31G	probably damaging	Het
Actr2	A	G	11: 20,100,939 (GRCm38)		probably benign	Het
Adcy8	A	G	15: 64,747,013 (GRCm38)	C764R	probably benign	Het
Ago4	A	C	4: 126,517,183 (GRCm38)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,636,970 (GRCm38)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,638,329 (GRCm38)	L26P	probably damaging	Het
Appl1	A	T	14: 26,928,643 (GRCm38)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,728,063 (GRCm38)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,417,918 (GRCm38)	E47G	probably damaging	Het
Birc6	A	G	17: 74,528,760 (GRCm38)	D70G	probably benign	Het
Bola2	G	A	7: 126,696,559 (GRCm38)	V56M	probably damaging	Het
Cd300lg	A	G	11: 102,054,092 (GRCm38)		probably null	Het
Cdc42bpb	A	G	12: 111,304,959 (GRCm38)		probably benign	Het
Ceacam20	A	G	7: 19,976,260 (GRCm38)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,659,650 (GRCm38)	M662V	probably benign	Het
Chd3	C	A	11: 69,348,501 (GRCm38)	E1607*	probably null	Het
Chtf18	A	T	17: 25,727,311 (GRCm38)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm38)	N200S	probably benign	Het
Csmd1	G	A	8: 16,079,942 (GRCm38)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,362,349 (GRCm38)	T204I	probably damaging	Het
Dennd4a	T	C	9: 64,893,294 (GRCm38)	S905P	probably damaging	Het
Dhx57	T	C	17: 80,238,914 (GRCm38)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,596,240 (GRCm38)		probably benign	Het
Dnhd1	G	T	7: 105,720,924 (GRCm38)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,850,027 (GRCm38)	C1120R	probably benign	Het
Efs	C	T	14: 54,917,223 (GRCm38)	A427T	probably damaging	Het
Erich6	T	C	3: 58,624,378 (GRCm38)	E399G	probably damaging	Het
Espl1	A	G	15: 102,316,648 (GRCm38)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,532,778 (GRCm38)	S830P	probably damaging	Het
Herc1	T	A	9: 66,448,075 (GRCm38)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,349,676 (GRCm38)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,716,159 (GRCm38)	T1026I	probably benign	Het
Ldlrap1	A	C	4: 134,757,422 (GRCm38)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,603,038 (GRCm38)	V155I	probably damaging	Het
Limch1	A	T	5: 66,959,590 (GRCm38)	N116I	probably damaging	Het
Lonp2	C	T	8: 86,634,890 (GRCm38)	R232C	probably damaging	Het
Lrch1	C	A	14: 74,835,746 (GRCm38)	C151F	probably benign	Het
Lrig3	A	G	10: 126,006,943 (GRCm38)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,433,275 (GRCm38)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,623,482 (GRCm38)	K501N	probably damaging	Het
Mdc1	G	T	17: 35,854,445 (GRCm38)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,266,140 (GRCm38)		probably benign	Het
Mul1	T	C	4: 138,437,721 (GRCm38)		probably benign	Het
Mybl2	G	A	2: 163,059,491 (GRCm38)		probably benign	Het
Notch1	G	C	2: 26,460,458 (GRCm38)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,146,620 (GRCm38)	L2200M	probably benign	Het
Odad3	G	T	9: 21,993,552 (GRCm38)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,917,470 (GRCm38)		probably null	Het
Or12k5	G	A	2: 37,005,045 (GRCm38)	R190*	probably null	Het
Or5ae2	T	A	7: 84,856,988 (GRCm38)	F206L	probably benign	Het
Or8a1b	T	C	9: 37,711,940 (GRCm38)	Y113C	probably damaging	Het
Plekhs1	T	C	19: 56,477,290 (GRCm38)		probably null	Het
Ppm1h	G	A	10: 122,941,355 (GRCm38)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,298,422 (GRCm38)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,462,390 (GRCm38)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,278,070 (GRCm38)	T159I	probably benign	Het
Rab20	A	G	8: 11,454,415 (GRCm38)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,651,151 (GRCm38)	M1R	probably null	Het
Skp2	A	G	15: 9,125,193 (GRCm38)	S100P	probably damaging	Het
Smg5	T	C	3: 88,349,233 (GRCm38)	S269P	probably benign	Het
Sspo	A	T	6: 48,455,418 (GRCm38)	T684S	probably benign	Het
Syt3	A	G	7: 44,393,358 (GRCm38)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,343,504 (GRCm38)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,765,045 (GRCm38)		probably benign	Het
Tsfm	A	G	10: 127,030,470 (GRCm38)	L74P	probably benign	Het
Ttn	G	C	2: 76,734,265 (GRCm38)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,798,908 (GRCm38)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,169,496 (GRCm38)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,522,271 (GRCm38)	S212T	probably benign	Het

Other mutations in Kif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Kif1b	APN	4	149,220,602 (GRCm38)	missense	probably damaging	1.00
IGL01943:Kif1b	APN	4	149,214,905 (GRCm38)	critical splice donor site	probably null
IGL02240:Kif1b	APN	4	149,246,414 (GRCm38)	missense	probably damaging	1.00
IGL02414:Kif1b	APN	4	149,199,314 (GRCm38)	missense	probably damaging	0.96
IGL02490:Kif1b	APN	4	149,204,208 (GRCm38)	missense	probably benign
IGL02501:Kif1b	APN	4	149,214,976 (GRCm38)	missense	probably damaging	1.00
IGL02833:Kif1b	APN	4	149,246,364 (GRCm38)	missense	probably damaging	1.00
IGL02852:Kif1b	APN	4	149,291,328 (GRCm38)	missense	probably damaging	1.00
IGL02900:Kif1b	APN	4	149,180,809 (GRCm38)	missense	possibly damaging	0.81
IGL03287:Kif1b	APN	4	149,214,981 (GRCm38)	missense	possibly damaging	0.67
IGL03412:Kif1b	APN	4	149,274,939 (GRCm38)	missense	probably benign	0.00
PIT4305001:Kif1b	UTSW	4	149,220,792 (GRCm38)	critical splice acceptor site	probably null
R0005:Kif1b	UTSW	4	149,181,927 (GRCm38)	missense	probably damaging	1.00
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0180:Kif1b	UTSW	4	149,213,659 (GRCm38)	missense	probably damaging	1.00
R0288:Kif1b	UTSW	4	149,199,338 (GRCm38)	missense	probably damaging	1.00
R0360:Kif1b	UTSW	4	149,262,729 (GRCm38)	missense	probably damaging	1.00
R0383:Kif1b	UTSW	4	149,202,512 (GRCm38)	missense	probably damaging	1.00
R0398:Kif1b	UTSW	4	149,204,231 (GRCm38)	missense	possibly damaging	0.89
R0403:Kif1b	UTSW	4	149,181,967 (GRCm38)	nonsense	probably null
R0445:Kif1b	UTSW	4	149,188,009 (GRCm38)	missense	probably benign	0.01
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1681:Kif1b	UTSW	4	149,195,501 (GRCm38)	critical splice acceptor site	probably null
R1728:Kif1b	UTSW	4	149,187,722 (GRCm38)	missense	probably damaging	0.99
R1840:Kif1b	UTSW	4	149,188,132 (GRCm38)	missense	probably damaging	1.00
R1874:Kif1b	UTSW	4	149,187,632 (GRCm38)	missense	probably benign
R1915:Kif1b	UTSW	4	149,267,216 (GRCm38)	missense	probably damaging	1.00
R2106:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2124:Kif1b	UTSW	4	149,222,296 (GRCm38)	missense	probably benign	0.08
R2126:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2127:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2128:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2129:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2146:Kif1b	UTSW	4	149,184,309 (GRCm38)	missense	probably damaging	0.99
R2255:Kif1b	UTSW	4	149,274,997 (GRCm38)	missense	probably damaging	1.00
R2392:Kif1b	UTSW	4	149,220,620 (GRCm38)	missense	possibly damaging	0.93
R2883:Kif1b	UTSW	4	149,237,648 (GRCm38)	missense	possibly damaging	0.78
R2981:Kif1b	UTSW	4	149,220,541 (GRCm38)	critical splice donor site	probably null
R3038:Kif1b	UTSW	4	149,213,333 (GRCm38)	missense	probably benign	0.02
R3616:Kif1b	UTSW	4	149,262,283 (GRCm38)	splice site	probably benign
R3935:Kif1b	UTSW	4	149,237,160 (GRCm38)	missense	probably benign	0.00
R4347:Kif1b	UTSW	4	149,247,234 (GRCm38)	missense	probably damaging	1.00
R4423:Kif1b	UTSW	4	149,214,105 (GRCm38)	missense	probably damaging	0.99
R4637:Kif1b	UTSW	4	149,199,311 (GRCm38)	missense	probably damaging	0.97
R4745:Kif1b	UTSW	4	149,237,882 (GRCm38)	nonsense	probably null
R4807:Kif1b	UTSW	4	149,247,921 (GRCm38)	intron	probably benign
R5618:Kif1b	UTSW	4	149,269,889 (GRCm38)	missense	possibly damaging	0.94
R5644:Kif1b	UTSW	4	149,238,482 (GRCm38)	missense	probably damaging	0.96
R5683:Kif1b	UTSW	4	149,222,261 (GRCm38)	missense	probably damaging	1.00
R5696:Kif1b	UTSW	4	149,273,849 (GRCm38)	splice site	probably null
R6022:Kif1b	UTSW	4	149,198,532 (GRCm38)	missense	probably benign	0.01
R6048:Kif1b	UTSW	4	149,263,629 (GRCm38)	missense	probably damaging	1.00
R6137:Kif1b	UTSW	4	149,238,426 (GRCm38)	missense	possibly damaging	0.47
R6139:Kif1b	UTSW	4	149,237,532 (GRCm38)	missense	possibly damaging	0.88
R6171:Kif1b	UTSW	4	149,258,048 (GRCm38)	missense	probably damaging	1.00
R6250:Kif1b	UTSW	4	149,213,643 (GRCm38)	missense	probably benign	0.00
R6423:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6424:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6425:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6443:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6460:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6462:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6463:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6469:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6470:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6471:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6472:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6504:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6536:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6537:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6668:Kif1b	UTSW	4	149,213,407 (GRCm38)	missense	probably benign	0.09
R6698:Kif1b	UTSW	4	149,274,956 (GRCm38)	missense	probably damaging	0.99
R7065:Kif1b	UTSW	4	149,202,525 (GRCm38)	missense	possibly damaging	0.46
R7222:Kif1b	UTSW	4	149,225,157 (GRCm38)	missense	probably damaging	1.00
R7342:Kif1b	UTSW	4	149,214,090 (GRCm38)	missense	possibly damaging	0.94
R7720:Kif1b	UTSW	4	149,182,355 (GRCm38)	missense	probably benign	0.01
R7744:Kif1b	UTSW	4	149,237,075 (GRCm38)	missense	possibly damaging	0.83
R7797:Kif1b	UTSW	4	149,237,387 (GRCm38)	missense	probably benign
R7829:Kif1b	UTSW	4	149,220,990 (GRCm38)	splice site	probably null
R7869:Kif1b	UTSW	4	149,184,376 (GRCm38)	missense	probably benign	0.01
R7878:Kif1b	UTSW	4	149,214,997 (GRCm38)	missense	probably damaging	0.98
R7980:Kif1b	UTSW	4	149,269,921 (GRCm38)	missense	probably damaging	1.00
R8047:Kif1b	UTSW	4	149,214,922 (GRCm38)	missense	probably damaging	1.00
R8237:Kif1b	UTSW	4	149,191,185 (GRCm38)	missense	probably benign	0.10
R8243:Kif1b	UTSW	4	149,204,267 (GRCm38)	missense	probably benign
R8252:Kif1b	UTSW	4	149,273,805 (GRCm38)	missense	probably damaging	1.00
R8342:Kif1b	UTSW	4	149,222,348 (GRCm38)	missense	probably damaging	0.96
R8460:Kif1b	UTSW	4	149,187,620 (GRCm38)	missense	possibly damaging	0.93
R8462:Kif1b	UTSW	4	149,182,340 (GRCm38)	missense	probably benign	0.05
R8496:Kif1b	UTSW	4	149,192,611 (GRCm38)	nonsense	probably null
R8687:Kif1b	UTSW	4	149,261,163 (GRCm38)	nonsense	probably null
R8694:Kif1b	UTSW	4	149,220,567 (GRCm38)	missense	probably damaging	0.98
R8842:Kif1b	UTSW	4	149,253,739 (GRCm38)	missense	probably damaging	0.98
R8883:Kif1b	UTSW	4	149,276,885 (GRCm38)	missense	probably benign
R8971:Kif1b	UTSW	4	149,247,816 (GRCm38)	missense	probably damaging	1.00
R8994:Kif1b	UTSW	4	149,195,482 (GRCm38)	missense
R9002:Kif1b	UTSW	4	149,191,255 (GRCm38)	missense	probably damaging	0.96
R9227:Kif1b	UTSW	4	149,237,900 (GRCm38)	missense	probably damaging	1.00
R9231:Kif1b	UTSW	4	149,191,195 (GRCm38)	missense	possibly damaging	0.94
R9450:Kif1b	UTSW	4	149,238,010 (GRCm38)	missense	probably benign	0.01
R9478:Kif1b	UTSW	4	149,261,159 (GRCm38)	critical splice donor site	probably null
R9571:Kif1b	UTSW	4	149,220,641 (GRCm38)	missense	probably damaging	1.00
R9644:Kif1b	UTSW	4	149,291,379 (GRCm38)	missense	probably damaging	1.00
RF008:Kif1b	UTSW	4	149,251,738 (GRCm38)	splice site	probably null
X0009:Kif1b	UTSW	4	149,247,264 (GRCm38)	missense	probably damaging	1.00
X0062:Kif1b	UTSW	4	149,275,005 (GRCm38)	missense	probably damaging	1.00
Z1176:Kif1b	UTSW	4	149,266,298 (GRCm38)	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