Mutagenetix > Incidental Mutation

Incidental Mutation 'R8842:Kif1b'

674467

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

068669-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149338196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 483 (I483F)

Ref Sequence

ENSEMBL: ENSMUSP00000056754 (fasta)

Gene Model

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

AlphaFold

Q60575

Predicted Effect

probably damaging
Transcript: ENSMUST00000030806
AA Change: I437F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030806
Gene: ENSMUSG00000063077
AA Change: I437F

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 damaging
Transcript: ENSMUST00000055647
AA Change: I437F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: I437F

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 damaging
Transcript: ENSMUST00000060537
AA Change: I483F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: I483F

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

0.1120

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	G	A	7: 122,893,750 (GRCm39)	P557S	probably benign	Het
Atad5	G	T	11: 80,000,910 (GRCm39)	D1014Y	possibly damaging	Het
Bmp6	T	A	13: 38,530,359 (GRCm39)	S151T	probably benign	Het
Bmp6	C	T	13: 38,682,795 (GRCm39)	Q459*	probably null	Het
Ccdc39	A	G	3: 33,880,612 (GRCm39)	Y452H	probably damaging	Het
Cenpj	A	G	14: 56,780,329 (GRCm39)	Y961H	probably damaging	Het
Col6a6	A	T	9: 105,655,166 (GRCm39)	Y852N	probably damaging	Het
Cpne8	A	G	15: 90,456,218 (GRCm39)	I156T	probably benign	Het
Cul1	T	A	6: 47,492,010 (GRCm39)	L430Q	probably damaging	Het
Dhx30	A	G	9: 109,914,296 (GRCm39)	S1031P	probably benign	Het
Dhx9	A	T	1: 153,338,335 (GRCm39)	F774I	possibly damaging	Het
Fezf2	A	C	14: 12,345,079 (GRCm38)	M36R	probably damaging	Het
Gbp2b	A	T	3: 142,312,576 (GRCm39)	I320L	probably benign	Het
Gemin6	T	A	17: 80,533,115 (GRCm39)	V16D	possibly damaging	Het
Gpr158	T	A	2: 21,581,751 (GRCm39)	V410D	possibly damaging	Het
H2-DMb2	C	T	17: 34,366,904 (GRCm39)	T112M	probably damaging	Het
Hecw2	T	C	1: 53,990,033 (GRCm39)	T114A		Het
Herc2	G	T	7: 55,738,059 (GRCm39)	R234L	probably damaging	Het
Igsf11	A	G	16: 38,829,243 (GRCm39)	I46V	probably benign	Het
Izumo1r	C	T	9: 14,813,705 (GRCm39)	G38S	possibly damaging	Het
Katna1	A	G	10: 7,614,600 (GRCm39)	D36G	probably benign	Het
Kdm1b	G	T	13: 47,231,832 (GRCm39)	R697L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrp1b	G	A	2: 41,158,417 (GRCm39)	T1714I		Het
Man2a2	A	G	7: 80,003,067 (GRCm39)	L1014P	probably damaging	Het
Marf1	T	C	16: 13,935,169 (GRCm39)	E1533G	probably damaging	Het
Mfsd2a	A	T	4: 122,845,623 (GRCm39)	I176N	probably damaging	Het
Mterf1b	T	A	5: 4,246,961 (GRCm39)	F201I	possibly damaging	Het
Neurod2	T	C	11: 98,218,507 (GRCm39)	E219G	probably damaging	Het
Nln	T	C	13: 104,209,486 (GRCm39)	E29G	probably benign	Het
Obscn	G	A	11: 58,892,861 (GRCm39)	T6795M	possibly damaging	Het
Or1e1c	G	T	11: 73,266,186 (GRCm39)	V207F	probably benign	Het
Or1i2	A	G	10: 78,447,635 (GRCm39)	V280A	possibly damaging	Het
Or1n1	C	A	2: 36,749,539 (GRCm39)	A274S	probably benign	Het
Or4c118	C	T	2: 88,975,074 (GRCm39)	V98I	probably benign	Het
Otog	A	T	7: 45,895,948 (GRCm39)	I138F	probably damaging	Het
Pdcd2l	G	A	7: 33,884,192 (GRCm39)	Q337*	probably null	Het
Ptprk	A	T	10: 28,442,497 (GRCm39)	N859I	probably damaging	Het
Pygl	G	T	12: 70,274,368 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,863,018 (GRCm39)	A447T	probably benign	Het
Slc27a6	A	T	18: 58,712,888 (GRCm39)	S237C	probably benign	Het
Smarcc1	G	A	9: 110,051,199 (GRCm39)	M1006I	possibly damaging	Het
Sult2a2	G	T	7: 13,472,192 (GRCm39)	G130C	probably damaging	Het
Trpm7	T	A	2: 126,663,131 (GRCm39)	H1039L	probably benign	Het
Wdr64	T	G	1: 175,599,893 (GRCm39)	N573K	probably benign	Het
Zbtb48	T	C	4: 152,104,496 (GRCm39)	I611V	probably benign	Het
Zer1	T	C	2: 30,001,062 (GRCm39)	S120G	possibly damaging	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	probably damaging	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
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'- TGTGAAGCATTTCAGGAGGG -3'
(R):5'- GTCTGATGTGCACTTAATTTTAGGC -3'

Sequencing Primer
(F):5'- TAATTCTATTTCACACACACACACAC -3'
(R):5'- AGTCTGCCATCGTCTTCA -3'

Posted On

2021-07-15