Mutagenetix > Incidental Mutation

Incidental Mutation 'R9478:Kif1b'

715919

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 149345616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000060537

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,451,573 (GRCm39)	I886F	possibly damaging	Het
3100002H09Rik	A	G	4: 124,504,151 (GRCm39)	S134P	unknown	Het
Abcf2	A	G	5: 24,770,940 (GRCm39)	L604P	possibly damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg14	G	T	14: 47,783,138 (GRCm39)	H373Q	probably damaging	Het
Atmin	C	T	8: 117,681,537 (GRCm39)	H179Y	probably damaging	Het
Catsperg1	G	T	7: 28,897,777 (GRCm39)	P197T	possibly damaging	Het
Ccdc7b	C	T	8: 129,837,473 (GRCm39)	Q155*	probably null	Het
Cep85l	T	G	10: 53,224,875 (GRCm39)	E238A	possibly damaging	Het
Cfap119	T	C	7: 127,184,087 (GRCm39)		probably null	Het
Cntln	G	A	4: 84,897,630 (GRCm39)	V406I	probably benign	Het
Csf2rb2	C	A	15: 78,168,965 (GRCm39)	G730V	probably benign	Het
Cyp3a59	T	A	5: 146,034,997 (GRCm39)	L225Q	probably damaging	Het
Dock1	T	A	7: 134,367,962 (GRCm39)	F511I	probably damaging	Het
Dsg1b	A	T	18: 20,531,008 (GRCm39)	Y453F		Het
Dync1h1	T	C	12: 110,625,137 (GRCm39)	F3829L	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Esco2	C	A	14: 66,068,657 (GRCm39)	G218*	probably null	Het
Gale	C	T	4: 135,692,574 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hgf	A	G	5: 16,766,029 (GRCm39)	D55G	possibly damaging	Het
Il17ra	A	G	6: 120,451,336 (GRCm39)	D170G	possibly damaging	Het
Inha	A	G	1: 75,486,562 (GRCm39)	S286G	probably benign	Het
Klhl24	T	G	16: 19,941,763 (GRCm39)	S570R	possibly damaging	Het
Krt87	G	A	15: 101,385,449 (GRCm39)	R308W	probably benign	Het
Lama2	T	A	10: 26,891,478 (GRCm39)	E2545V	probably damaging	Het
Lztfl1	T	C	9: 123,537,167 (GRCm39)	K165E	possibly damaging	Het
Mab21l3	A	T	3: 101,725,987 (GRCm39)	D336E	probably damaging	Het
Matn2	T	C	15: 34,345,242 (GRCm39)	I83T	probably damaging	Het
Mfsd9	T	C	1: 40,812,941 (GRCm39)	D458G	probably benign	Het
Ncbp3	A	G	11: 72,968,768 (GRCm39)	D513G	probably damaging	Het
Neb	T	A	2: 52,078,788 (GRCm39)	K5818N	probably benign	Het
Nol4	G	A	18: 23,053,934 (GRCm39)	P120S	probably damaging	Het
Oit3	C	A	10: 59,274,464 (GRCm39)	C112F	probably damaging	Het
Or11g27	A	T	14: 50,771,051 (GRCm39)	T61S	probably benign	Het
Or4b1	C	A	2: 89,979,595 (GRCm39)	A252S	possibly damaging	Het
Or5p52	G	A	7: 107,502,238 (GRCm39)	V105M	probably damaging	Het
Or6c6	T	A	10: 129,186,960 (GRCm39)	M176K	possibly damaging	Het
Pank4	G	A	4: 155,064,565 (GRCm39)	R708Q	probably benign	Het
Plch1	T	A	3: 63,606,825 (GRCm39)	L1026F	probably benign	Het
Poglut3	T	C	9: 53,303,236 (GRCm39)	F232L	probably damaging	Het
Ptpn3	A	T	4: 57,197,573 (GRCm39)	I772N	probably damaging	Het
Purb	A	G	11: 6,425,424 (GRCm39)	F155L	probably damaging	Het
Rcor2	C	T	19: 7,248,794 (GRCm39)	R256W	probably damaging	Het
Rp1	A	G	1: 4,417,545 (GRCm39)	L1189P	probably benign	Het
Scn1a	T	C	2: 66,156,493 (GRCm39)	E472G	probably benign	Het
Sema3e	T	C	5: 14,286,386 (GRCm39)	Y536H	probably damaging	Het
Serpina3n	A	T	12: 104,378,672 (GRCm39)	I331F	possibly damaging	Het
Sertad3	T	C	7: 27,175,679 (GRCm39)	S38P	probably damaging	Het
Sfrp4	G	T	13: 19,807,610 (GRCm39)	R3L	unknown	Het
Slc35a5	T	C	16: 44,964,426 (GRCm39)	E269G	probably damaging	Het
Snrnp200	G	A	2: 127,076,993 (GRCm39)		probably null	Het
Sumo1	A	G	1: 59,694,615 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,154,387 (GRCm39)	K2020E	probably damaging	Het
Tcp10a	A	T	17: 7,601,740 (GRCm39)	T247S	probably benign	Het
Tgds	T	C	14: 118,352,544 (GRCm39)	D290G	possibly damaging	Het
Trav7d-3	A	T	14: 52,982,054 (GRCm39)	I32F	possibly damaging	Het
Vps41	A	G	13: 19,046,913 (GRCm39)	N788D		Het
Zfp521	G	A	18: 13,950,372 (GRCm39)	T1194I	probably damaging	Het
Zmynd8	C	A	2: 165,649,569 (GRCm39)	K841N	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
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
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'- GTCATCTTCAGTGAAGGCATAAAC -3'
(R):5'- CTTAGCTCTTACTGATTAGAACCTGG -3'

Sequencing Primer
(F):5'- CAGTGAAGGCATAAACTAAAGTTCAC -3'
(R):5'- ACTGATTAGAACCTGGATTTTAACG -3'

Posted On

2022-06-15