Mutagenetix > Incidental Mutation

Incidental Mutation 'R8994:Kif1b'

684584

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

068825-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8994 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

149260776-149392150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 149279939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 27 (D27G)

Gene Model

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

AlphaFold

Q60575

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 benign
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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: D27G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,771,556 (GRCm39)		probably null	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,723,471 (GRCm39)	M952K	probably benign	Het
Ccser2	A	T	14: 36,662,076 (GRCm39)	N369K	probably benign	Het
Cd300e	A	T	11: 114,946,348 (GRCm39)	Y38N	probably damaging	Het
Crat	G	T	2: 30,297,887 (GRCm39)	F212L	probably damaging	Het
Dnah8	T	A	17: 31,009,807 (GRCm39)	S3733T	probably benign	Het
Fam135a	C	T	1: 24,067,621 (GRCm39)	D1083N	probably damaging	Het
Fam174a	C	A	1: 95,241,689 (GRCm39)	P50T	possibly damaging	Het
Fars2	T	A	13: 36,388,849 (GRCm39)	Y113N	probably damaging	Het
Fpr3	T	C	17: 18,191,341 (GRCm39)	I204T	possibly damaging	Het
Frmd3	T	C	4: 74,088,985 (GRCm39)	V394A	probably benign	Het
Garin5a	G	T	7: 44,146,342 (GRCm39)	R16L	probably benign	Het
Gpbp1	C	A	13: 111,603,384 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,441,629 (GRCm39)	F1197Y	probably benign	Het
Herc3	A	G	6: 58,851,328 (GRCm39)	T526A	probably benign	Het
Hnrnpul2	T	C	19: 8,802,350 (GRCm39)	C406R	probably damaging	Het
Hsd17b3	T	C	13: 64,210,695 (GRCm39)	Q220R	probably damaging	Het
Igf2r	T	A	17: 12,935,537 (GRCm39)	Y651F	possibly damaging	Het
Kcng1	C	T	2: 168,110,768 (GRCm39)	R132Q	probably benign	Het
Kif1a	G	A	1: 92,983,457 (GRCm39)	S680F	possibly damaging	Het
Klk12	A	T	7: 43,421,485 (GRCm39)	T180S	probably damaging	Het
Klk1b27	A	G	7: 43,705,136 (GRCm39)	H101R	probably damaging	Het
Lrp6	C	A	6: 134,518,656 (GRCm39)	E136D	probably benign	Het
Mcm9	T	C	10: 53,424,620 (GRCm39)	I657V	probably benign	Het
Med13l	A	C	5: 118,866,226 (GRCm39)	K427Q	possibly damaging	Het
Nol10	A	T	12: 17,402,717 (GRCm39)	D63V	probably damaging	Het
Nudcd2	A	G	11: 40,624,862 (GRCm39)	T24A	probably damaging	Het
Nup155	T	C	15: 8,172,645 (GRCm39)		probably null	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or10p1	A	T	10: 129,444,005 (GRCm39)	L115H	probably damaging	Het
Or51af1	A	T	7: 103,141,800 (GRCm39)	M95K	probably benign	Het
Or5p81	G	A	7: 108,267,169 (GRCm39)	C182Y	probably damaging	Het
Or8c19-ps1	A	T	9: 38,220,581 (GRCm39)	*163Y	probably null	Het
Piezo1	T	C	8: 123,209,829 (GRCm39)	D2314G	unknown	Het
Pkhd1l1	T	C	15: 44,410,499 (GRCm39)	F2669L	probably damaging	Het
Plpp4	A	G	7: 128,981,157 (GRCm39)	R178G	probably damaging	Het
Ppp1r13l	G	T	7: 19,102,695 (GRCm39)	A37S	possibly damaging	Het
Prl6a1	A	G	13: 27,499,417 (GRCm39)	T62A	probably benign	Het
Ranbp2	C	A	10: 58,315,891 (GRCm39)	Q2204K	possibly damaging	Het
Rbm48	T	A	5: 3,640,795 (GRCm39)	M195L	probably benign	Het
Rigi	C	A	4: 40,205,941 (GRCm39)	E884*	probably null	Het
Shank3	T	A	15: 89,417,416 (GRCm39)	F4L	probably benign	Het
Slain2	T	A	5: 73,114,984 (GRCm39)	V405D	probably damaging	Het
Slitrk5	A	C	14: 111,918,227 (GRCm39)	D617A	probably benign	Het
Sp140	T	A	1: 85,549,603 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,443,542 (GRCm39)	T240A	probably benign	Het
Timm21	T	C	18: 84,969,489 (GRCm39)		probably benign	Het
Tmem131	T	C	1: 36,854,538 (GRCm39)	S904G	probably benign	Het
Tmem86b	A	G	7: 4,632,706 (GRCm39)	C53R	unknown	Het
Wdr33	T	C	18: 31,960,459 (GRCm39)	L41P	probably benign	Het
Zfp112	A	C	7: 23,825,490 (GRCm39)	H490P	probably benign	Het
Zfp455	T	C	13: 67,355,478 (GRCm39)	Y184H	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
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'- TCGTGCTCTGTTCTAGGTAAAGC -3'
(R):5'- GTCCTCTGAAATTCAGTTCGC -3'

Sequencing Primer
(F):5'- GTAAGAGCACCCGACTGTTC -3'
(R):5'- TGAAATTCAGTTCGCTTCTTAGC -3'

Posted On

2021-10-11