Mutagenetix > Incidental Mutation

Incidental Mutation 'R8694:Kif1b'

668557

Institutional Source

Beutler Lab

Gene Symbol

Kif1b

Ensembl Gene

ENSMUSG00000063077

Gene Name

kinesin family member 1B

Synonyms

Kif1b beta, KIF1Bp130, A530096N05Rik, D4Mil1e, Kif1b alpha, N-3 kinesin, KIF1Bp204

MMRRC Submission

068548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149176319-149307693 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149220567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 967 (S967P)

Ref Sequence

ENSEMBL: ENSMUSP00000056754 (fasta)

Gene Model

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

AlphaFold

Q60575

Predicted Effect

probably benign
Transcript: ENSMUST00000055647
AA Change: S921P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: S921P

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: S967P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: S967P

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (51/52)

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
A830010M20Rik	A	G	5: 107,510,769 (GRCm38)	D1735G	probably benign	Het
Adar	T	C	3: 89,735,643 (GRCm38)	L277P	probably damaging	Het
Adgrb3	C	A	1: 25,826,391 (GRCm38)	D124Y	probably damaging	Het
Afdn	T	C	17: 13,888,379 (GRCm38)	V1403A	probably benign	Het
Afg3l1	T	C	8: 123,501,234 (GRCm38)	V586A	probably damaging	Het
Aloxe3	A	G	11: 69,142,851 (GRCm38)	D597G	probably damaging	Het
Asb15	T	C	6: 24,570,667 (GRCm38)	V548A	probably benign	Het
Atp6v1a	C	T	16: 44,101,628 (GRCm38)	R388Q	probably damaging	Het
C130074G19Rik	G	A	1: 184,882,987 (GRCm38)	T2M	probably damaging	Het
Ccdc187	T	C	2: 26,275,493 (GRCm38)	T884A	probably benign	Het
Cdk5rap1	G	A	2: 154,353,228 (GRCm38)	R356*	probably null	Het
Cebpz	A	T	17: 78,926,905 (GRCm38)	H725Q	probably damaging	Het
Celsr2	T	C	3: 108,406,860 (GRCm38)	D1283G	probably damaging	Het
Cldn11	G	T	3: 31,163,090 (GRCm38)	V136F	probably damaging	Het
Cpxm2	T	C	7: 132,080,054 (GRCm38)	N249D	probably benign	Het
Ctsz	T	C	2: 174,438,279 (GRCm38)	N67D	probably benign	Het
Drd3	A	C	16: 43,822,712 (GRCm38)	H405P	probably damaging	Het
F2rl2	T	C	13: 95,700,831 (GRCm38)	V128A	probably benign	Het
Fh1	C	T	1: 175,620,560 (GRCm38)	P43S	probably benign	Het
Fndc7	C	T	3: 108,872,306 (GRCm38)	W307*	probably null	Het
Gm996	A	G	2: 25,579,819 (GRCm38)	S27P	possibly damaging	Het
Gmip	G	T	8: 69,817,835 (GRCm38)	V732L	probably benign	Het
Heatr4	A	G	12: 83,980,264 (GRCm38)	F73S	probably damaging	Het
Iqcf4	T	C	9: 106,570,912 (GRCm38)		probably benign	Het
Itln1	T	A	1: 171,531,711 (GRCm38)	Q67L	probably damaging	Het
Jak1	A	G	4: 101,156,507 (GRCm38)	V1008A	probably damaging	Het
Kcnh1	A	T	1: 192,238,723 (GRCm38)		probably benign	Het
Kcnu1	T	G	8: 25,852,073 (GRCm38)		probably benign	Het
Klra17	A	G	6: 129,874,817 (GRCm38)	S31P	probably benign	Het
Kmt2d	C	T	15: 98,844,734 (GRCm38)	E4182K	unknown	Het
Lama5	T	C	2: 180,180,884 (GRCm38)	D2825G	probably damaging	Het
Lmtk2	T	C	5: 144,171,748 (GRCm38)	V336A	probably damaging	Het
Mad1l1	A	G	5: 140,088,683 (GRCm38)	I584T	probably benign	Het
Magea1	T	A	X: 155,088,791 (GRCm38)	N313I	possibly damaging	Het
Mapt	T	C	11: 104,298,614 (GRCm38)	S153P	probably benign	Het
Myo1e	T	C	9: 70,383,890 (GRCm38)	Y988H	probably benign	Het
Ndufc2	A	T	7: 97,400,196 (GRCm38)	N3I	probably benign	Het
Nos2	T	A	11: 78,945,689 (GRCm38)	V531D	possibly damaging	Het
Npbwr1	T	A	1: 5,916,398 (GRCm38)	Y299F	probably damaging	Het
Olfr1100	G	A	2: 86,978,247 (GRCm38)	P183L	probably damaging	Het
Olfr1238	A	G	2: 89,407,034 (GRCm38)	L15P	probably damaging	Het
Olfr1242	A	G	2: 89,493,827 (GRCm38)	Y162H	possibly damaging	Het
Olfr659	G	T	7: 104,671,089 (GRCm38)	C129F	probably damaging	Het
Pp2d1	T	C	17: 53,508,163 (GRCm38)	Y511C	probably benign	Het
Psmb4	T	C	3: 94,886,124 (GRCm38)	N149D	probably benign	Het
Setbp1	T	C	18: 78,858,301 (GRCm38)	K717R	probably damaging	Het
Slc25a11	T	C	11: 70,644,804 (GRCm38)	M303V	probably benign	Het
Spesp1	A	T	9: 62,272,960 (GRCm38)	M222K	probably benign	Het
Tmem132d	A	G	5: 127,792,431 (GRCm38)	M613T	probably benign	Het
Ugt2a2	A	G	5: 87,464,170 (GRCm38)	F294L	probably damaging	Het
Usp34	A	G	11: 23,484,161 (GRCm38)	T3246A		Het
Zfp750	T	A	11: 121,513,630 (GRCm38)	I140F	possibly damaging	Het
Zscan4e	A	T	7: 11,307,647 (GRCm38)	H127Q	possibly damaging	Het

Other mutations in Kif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Kif1b	APN	4	149,220,602 (GRCm38)	missense	probably damaging	1.00
IGL01943:Kif1b	APN	4	149,214,905 (GRCm38)	critical splice donor site	probably null
IGL02240:Kif1b	APN	4	149,246,414 (GRCm38)	missense	probably damaging	1.00
IGL02414:Kif1b	APN	4	149,199,314 (GRCm38)	missense	probably damaging	0.96
IGL02490:Kif1b	APN	4	149,204,208 (GRCm38)	missense	probably benign
IGL02501:Kif1b	APN	4	149,214,976 (GRCm38)	missense	probably damaging	1.00
IGL02833:Kif1b	APN	4	149,246,364 (GRCm38)	missense	probably damaging	1.00
IGL02852:Kif1b	APN	4	149,291,328 (GRCm38)	missense	probably damaging	1.00
IGL02900:Kif1b	APN	4	149,180,809 (GRCm38)	missense	possibly damaging	0.81
IGL03287:Kif1b	APN	4	149,214,981 (GRCm38)	missense	possibly damaging	0.67
IGL03412:Kif1b	APN	4	149,274,939 (GRCm38)	missense	probably benign	0.00
PIT4305001:Kif1b	UTSW	4	149,220,792 (GRCm38)	critical splice acceptor site	probably null
R0005:Kif1b	UTSW	4	149,181,927 (GRCm38)	missense	probably damaging	1.00
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0129:Kif1b	UTSW	4	149,261,201 (GRCm38)	missense	probably benign
R0180:Kif1b	UTSW	4	149,213,659 (GRCm38)	missense	probably damaging	1.00
R0288:Kif1b	UTSW	4	149,199,338 (GRCm38)	missense	probably damaging	1.00
R0360:Kif1b	UTSW	4	149,262,729 (GRCm38)	missense	probably damaging	1.00
R0383:Kif1b	UTSW	4	149,202,512 (GRCm38)	missense	probably damaging	1.00
R0398:Kif1b	UTSW	4	149,204,231 (GRCm38)	missense	possibly damaging	0.89
R0403:Kif1b	UTSW	4	149,181,967 (GRCm38)	nonsense	probably null
R0445:Kif1b	UTSW	4	149,188,009 (GRCm38)	missense	probably benign	0.01
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1681:Kif1b	UTSW	4	149,195,501 (GRCm38)	critical splice acceptor site	probably null
R1728:Kif1b	UTSW	4	149,187,722 (GRCm38)	missense	probably damaging	0.99
R1840:Kif1b	UTSW	4	149,188,132 (GRCm38)	missense	probably damaging	1.00
R1874:Kif1b	UTSW	4	149,187,632 (GRCm38)	missense	probably benign
R1915:Kif1b	UTSW	4	149,267,216 (GRCm38)	missense	probably damaging	1.00
R2106:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2124:Kif1b	UTSW	4	149,222,296 (GRCm38)	missense	probably benign	0.08
R2126:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2127:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2128:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2129:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2146:Kif1b	UTSW	4	149,184,309 (GRCm38)	missense	probably damaging	0.99
R2255:Kif1b	UTSW	4	149,274,997 (GRCm38)	missense	probably damaging	1.00
R2392:Kif1b	UTSW	4	149,220,620 (GRCm38)	missense	possibly damaging	0.93
R2883:Kif1b	UTSW	4	149,237,648 (GRCm38)	missense	possibly damaging	0.78
R2981:Kif1b	UTSW	4	149,220,541 (GRCm38)	critical splice donor site	probably null
R3038:Kif1b	UTSW	4	149,213,333 (GRCm38)	missense	probably benign	0.02
R3616:Kif1b	UTSW	4	149,262,283 (GRCm38)	splice site	probably benign
R3935:Kif1b	UTSW	4	149,237,160 (GRCm38)	missense	probably benign	0.00
R4347:Kif1b	UTSW	4	149,247,234 (GRCm38)	missense	probably damaging	1.00
R4423:Kif1b	UTSW	4	149,214,105 (GRCm38)	missense	probably damaging	0.99
R4637:Kif1b	UTSW	4	149,199,311 (GRCm38)	missense	probably damaging	0.97
R4745:Kif1b	UTSW	4	149,237,882 (GRCm38)	nonsense	probably null
R4807:Kif1b	UTSW	4	149,247,921 (GRCm38)	intron	probably benign
R5618:Kif1b	UTSW	4	149,269,889 (GRCm38)	missense	possibly damaging	0.94
R5644:Kif1b	UTSW	4	149,238,482 (GRCm38)	missense	probably damaging	0.96
R5683:Kif1b	UTSW	4	149,222,261 (GRCm38)	missense	probably damaging	1.00
R5696:Kif1b	UTSW	4	149,273,849 (GRCm38)	splice site	probably null
R6022:Kif1b	UTSW	4	149,198,532 (GRCm38)	missense	probably benign	0.01
R6048:Kif1b	UTSW	4	149,263,629 (GRCm38)	missense	probably damaging	1.00
R6137:Kif1b	UTSW	4	149,238,426 (GRCm38)	missense	possibly damaging	0.47
R6139:Kif1b	UTSW	4	149,237,532 (GRCm38)	missense	possibly damaging	0.88
R6171:Kif1b	UTSW	4	149,258,048 (GRCm38)	missense	probably damaging	1.00
R6250:Kif1b	UTSW	4	149,213,643 (GRCm38)	missense	probably benign	0.00
R6423:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6424:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6425:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6443:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6460:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6462:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6463:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6469:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6470:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6471:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6472:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6504:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6536:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6537:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6668:Kif1b	UTSW	4	149,213,407 (GRCm38)	missense	probably benign	0.09
R6698:Kif1b	UTSW	4	149,274,956 (GRCm38)	missense	probably damaging	0.99
R7065:Kif1b	UTSW	4	149,202,525 (GRCm38)	missense	possibly damaging	0.46
R7222:Kif1b	UTSW	4	149,225,157 (GRCm38)	missense	probably damaging	1.00
R7342:Kif1b	UTSW	4	149,214,090 (GRCm38)	missense	possibly damaging	0.94
R7720:Kif1b	UTSW	4	149,182,355 (GRCm38)	missense	probably benign	0.01
R7744:Kif1b	UTSW	4	149,237,075 (GRCm38)	missense	possibly damaging	0.83
R7797:Kif1b	UTSW	4	149,237,387 (GRCm38)	missense	probably benign
R7829:Kif1b	UTSW	4	149,220,990 (GRCm38)	splice site	probably null
R7869:Kif1b	UTSW	4	149,184,376 (GRCm38)	missense	probably benign	0.01
R7878:Kif1b	UTSW	4	149,214,997 (GRCm38)	missense	probably damaging	0.98
R7980:Kif1b	UTSW	4	149,269,921 (GRCm38)	missense	probably damaging	1.00
R8047:Kif1b	UTSW	4	149,214,922 (GRCm38)	missense	probably damaging	1.00
R8237:Kif1b	UTSW	4	149,191,185 (GRCm38)	missense	probably benign	0.10
R8243:Kif1b	UTSW	4	149,204,267 (GRCm38)	missense	probably benign
R8252:Kif1b	UTSW	4	149,273,805 (GRCm38)	missense	probably damaging	1.00
R8342:Kif1b	UTSW	4	149,222,348 (GRCm38)	missense	probably damaging	0.96
R8460:Kif1b	UTSW	4	149,187,620 (GRCm38)	missense	possibly damaging	0.93
R8462:Kif1b	UTSW	4	149,182,340 (GRCm38)	missense	probably benign	0.05
R8496:Kif1b	UTSW	4	149,192,611 (GRCm38)	nonsense	probably null
R8687:Kif1b	UTSW	4	149,261,163 (GRCm38)	nonsense	probably null
R8842:Kif1b	UTSW	4	149,253,739 (GRCm38)	missense	probably damaging	0.98
R8883:Kif1b	UTSW	4	149,276,885 (GRCm38)	missense	probably benign
R8971:Kif1b	UTSW	4	149,247,816 (GRCm38)	missense	probably damaging	1.00
R8994:Kif1b	UTSW	4	149,195,482 (GRCm38)	missense
R9002:Kif1b	UTSW	4	149,191,255 (GRCm38)	missense	probably damaging	0.96
R9227:Kif1b	UTSW	4	149,237,900 (GRCm38)	missense	probably damaging	1.00
R9231:Kif1b	UTSW	4	149,191,195 (GRCm38)	missense	possibly damaging	0.94
R9450:Kif1b	UTSW	4	149,238,010 (GRCm38)	missense	probably benign	0.01
R9478:Kif1b	UTSW	4	149,261,159 (GRCm38)	critical splice donor site	probably null
R9571:Kif1b	UTSW	4	149,220,641 (GRCm38)	missense	probably damaging	1.00
R9644:Kif1b	UTSW	4	149,291,379 (GRCm38)	missense	probably damaging	1.00
RF008:Kif1b	UTSW	4	149,251,738 (GRCm38)	splice site	probably null
X0009:Kif1b	UTSW	4	149,247,264 (GRCm38)	missense	probably damaging	1.00
X0062:Kif1b	UTSW	4	149,275,005 (GRCm38)	missense	probably damaging	1.00
Z1176:Kif1b	UTSW	4	149,266,298 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ATTTGGGTCAAGCCGTCCTC -3'
(R):5'- TGTGTGAATGAGCGCCTTGC -3'

Sequencing Primer
(F):5'- CCAGGTGGTCTTCATAAGCTGC -3'
(R):5'- GACCGCACACCCTCCCC -3'

Posted On

2021-04-30