Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01311:Kif1b'

73696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif1b

Ensembl Gene

ENSMUSG00000063077

Gene Name

kinesin family member 1B

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01311

Quality Score

Status

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149305059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 909 (L909P)

Ref Sequence

ENSEMBL: ENSMUSP00000061472 (fasta)

Gene Model

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

AlphaFold

Q60575

Predicted Effect

probably damaging
Transcript: ENSMUST00000055647
AA Change: L909P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: L909P

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

possibly damaging
Transcript: ENSMUST00000060537
AA Change: L955P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: L955P

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: ENSMUST00000133526

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	T	7: 101,037,343 (GRCm39)	K457*	probably null	Het
Arhgef10	C	A	8: 15,041,054 (GRCm39)		probably null	Het
Becn1	C	T	11: 101,182,342 (GRCm39)	G281S	probably damaging	Het
Borcs8	A	G	8: 70,617,818 (GRCm39)	S59G	probably damaging	Het
Brd10	C	T	19: 29,731,420 (GRCm39)	V531I	probably benign	Het
Capn5	C	A	7: 97,811,130 (GRCm39)	R53L	probably damaging	Het
Cdk5	C	T	5: 24,624,593 (GRCm39)		probably null	Het
Cnksr1	A	G	4: 133,957,777 (GRCm39)	L434P	probably damaging	Het
Col22a1	C	T	15: 71,845,486 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,667,299 (GRCm39)	D811G	probably damaging	Het
Haus3	G	A	5: 34,324,988 (GRCm39)	Q224*	probably null	Het
Jakmip2	A	G	18: 43,690,389 (GRCm39)		probably benign	Het
Jam3	T	G	9: 27,010,019 (GRCm39)	T296P	probably damaging	Het
Kcnrg	T	C	14: 61,849,274 (GRCm39)	L245P	probably damaging	Het
Klrc3	T	C	6: 129,618,375 (GRCm39)	D136G	probably damaging	Het
Lrrc37	T	A	11: 103,425,502 (GRCm39)	R1450S	unknown	Het
Ltf	T	C	9: 110,860,080 (GRCm39)		probably benign	Het
Meig1	A	T	2: 3,410,245 (GRCm39)	V85D	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,746 (GRCm39)	E326D	probably benign	Het
Nlrp2	T	A	7: 5,322,238 (GRCm39)	D65V	possibly damaging	Het
Or4c100	T	C	2: 88,356,104 (GRCm39)	F59S	possibly damaging	Het
Or52h7	T	C	7: 104,214,036 (GRCm39)	Y203H	probably damaging	Het
Padi2	G	A	4: 140,644,948 (GRCm39)	V61I	probably benign	Het
Pkd1l1	T	C	11: 8,851,174 (GRCm39)	S753G	possibly damaging	Het
Ppp4r3b	T	C	11: 29,144,591 (GRCm39)	S314P	probably benign	Het
Serpina3i	T	C	12: 104,233,946 (GRCm39)	S305P	probably damaging	Het
Slc16a4	G	T	3: 107,199,821 (GRCm39)	V23F	possibly damaging	Het
Slc25a34	G	A	4: 141,348,747 (GRCm39)	T239I	possibly damaging	Het
Srebf2	T	C	15: 82,076,404 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,625,885 (GRCm39)	V1355A	possibly damaging	Het
Tcf12	A	T	9: 71,765,938 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,586,077 (GRCm39)	E171G	possibly damaging	Het
Ubr4	A	G	4: 139,206,356 (GRCm39)	H4864R	possibly damaging	Het
Vmn2r108	A	T	17: 20,682,939 (GRCm39)	L755*	probably null	Het
Zfp292	C	T	4: 34,807,961 (GRCm39)	M1699I	probably benign	Het
Zmynd8	T	C	2: 165,647,129 (GRCm39)	D880G	probably damaging	Het

Other mutations in Kif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07