Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Kif1b'

158488

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

038646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0445 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149272466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1455 (L1455Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061472 (fasta)

Gene Model

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

AlphaFold

Q60575

Predicted Effect

probably benign
Transcript: ENSMUST00000055647
AA Change: L1455Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: L1455Q

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: L1501Q

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

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: L1501Q

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

unknown
Transcript: ENSMUST00000139123
AA Change: L179Q

SMART Domains

Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: L179Q

Domain	Start	End	E-Value	Type
Pfam:DUF3694	1	92	4.4e-23	PFAM
low complexity region	169	186	N/A	INTRINSIC
low complexity region	204	232	N/A	INTRINSIC
low complexity region	298	316	N/A	INTRINSIC
PH	381	480	1.02e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150853

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	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
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'- AGGAACATCGTTACCTGAGCCCAG -3'
(R):5'- AGCATTTGTTTACTTTTCACAAGGCCC -3'

Sequencing Primer
(F):5'- GTTACCTGAGCCCAGTAAGC -3'
(R):5'- atccacctgcctctgcc -3'

Posted On

2014-02-20