Mutagenetix > Incidental Mutation

Incidental Mutation 'R8883:Kif1b'

677096

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

068689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149361342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 49 (S49T)

Ref Sequence

ENSEMBL: ENSMUSP00000056754 (fasta)

Gene Model

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

AlphaFold

Q60575

Predicted Effect

probably benign
Transcript: ENSMUST00000030806
AA Change: S49T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030806
Gene: ENSMUSG00000063077
AA Change: S49T

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
AA Change: S49T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: S49T

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: S49T

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

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: S49T

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

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,283,168 (GRCm39)	S3197P	probably benign	Het
Arih2	A	G	9: 108,486,992 (GRCm39)	S315P	probably damaging	Het
Atp1b3	A	T	9: 96,246,122 (GRCm39)	L29Q	probably damaging	Het
Bsn	G	A	9: 107,990,227 (GRCm39)	P1842S	probably damaging	Het
Ccnb1ip1	G	C	14: 51,027,359 (GRCm39)	P248A	probably benign	Het
Cep76	T	C	18: 67,766,540 (GRCm39)	Q262R	probably benign	Het
Cox10	T	C	11: 63,884,775 (GRCm39)	E210G	probably damaging	Het
Dcaf1	T	G	9: 106,724,839 (GRCm39)		probably benign	Het
Dgki	A	T	6: 36,993,608 (GRCm39)	D584E	probably damaging	Het
Evpl	T	C	11: 116,121,243 (GRCm39)	E428G	probably damaging	Het
Fbh1	A	G	2: 11,753,922 (GRCm39)	F807L	probably benign	Het
Fbxo11	A	G	17: 88,305,044 (GRCm39)	V533A		Het
Fermt3	G	T	19: 6,980,600 (GRCm39)	D322E	probably damaging	Het
Fsip2	G	T	2: 82,809,524 (GRCm39)	V1948L	possibly damaging	Het
Gata4	T	C	14: 63,442,204 (GRCm39)	D206G	probably benign	Het
Gjd3	A	G	11: 102,691,769 (GRCm39)	V78A	probably damaging	Het
Gnl1	A	G	17: 36,293,490 (GRCm39)	N225S	probably damaging	Het
Hmces	G	A	6: 87,910,396 (GRCm39)	A269T	probably benign	Het
Kalrn	A	T	16: 33,814,025 (GRCm39)	N2434K	probably damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lap3	C	A	5: 45,669,272 (GRCm39)	H474N	probably benign	Het
Ldlrad1	A	G	4: 107,073,412 (GRCm39)	Y149C	probably damaging	Het
Lsm8	T	C	6: 18,851,747 (GRCm39)	V62A	probably benign	Het
Map3k14	T	G	11: 103,130,278 (GRCm39)	Q213P	probably benign	Het
Mboat2	T	G	12: 25,009,033 (GRCm39)	H478Q		Het
Mepce	C	A	5: 137,784,779 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,636 (GRCm39)	R233H		Het
Muc2	A	G	7: 141,287,469 (GRCm39)	H216R	probably damaging	Het
Ntmt1	G	A	2: 30,712,466 (GRCm39)	A170T	probably benign	Het
Or2ag15	A	G	7: 106,340,274 (GRCm39)	I289T	possibly damaging	Het
Or2d3	A	C	7: 106,490,536 (GRCm39)	M260R	probably damaging	Het
Or5w17	T	A	2: 87,583,838 (GRCm39)	L166F	probably damaging	Het
Or8g19	A	G	9: 39,056,083 (GRCm39)	H229R	probably benign	Het
Pebp4	G	T	14: 70,085,098 (GRCm39)	C52F	probably damaging	Het
Pigm	T	A	1: 172,205,085 (GRCm39)	Y274N	probably damaging	Het
Pik3r6	T	C	11: 68,424,468 (GRCm39)	S358P	probably benign	Het
Plekhd1	T	C	12: 80,767,368 (GRCm39)	I252T	probably benign	Het
Prss3b	G	T	6: 41,009,305 (GRCm39)	Y176*	probably null	Het
Racgap1	A	G	15: 99,526,540 (GRCm39)	V341A	probably benign	Het
Rprd1a	T	C	18: 24,640,260 (GRCm39)	D172G	possibly damaging	Het
Spg11	T	C	2: 121,943,561 (GRCm39)	D197G	probably damaging	Het
Spmap2	T	C	10: 79,412,474 (GRCm39)	D339G	probably benign	Het
Spta1	A	T	1: 174,021,145 (GRCm39)	K574N	possibly damaging	Het
Srrd	A	T	5: 112,487,790 (GRCm39)	F130L	possibly damaging	Het
Stim1	A	T	7: 102,080,257 (GRCm39)	H547L	unknown	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tap1	T	C	17: 34,406,867 (GRCm39)	V5A	unknown	Het
Tent5c	C	A	3: 100,379,707 (GRCm39)	A350S	probably benign	Het
Usp45	G	A	4: 21,825,006 (GRCm39)	G586D	probably damaging	Het
Vps13c	G	T	9: 67,855,479 (GRCm39)	A2515S	probably benign	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfyve28	T	C	5: 34,375,211 (GRCm39)		probably null	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
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
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'- TTTTAAATGAACTCCTGAACTGGG -3'
(R):5'- GTCCAGTATAAATTGCCCTCTTAAAC -3'

Sequencing Primer
(F):5'- CATGCCTGTAATTCCAGCAGTTGAG -3'
(R):5'- TTGCCCTCTTAAACAATGATAACC -3'

Posted On

2021-08-02