Mutagenetix > Incidental Mutation

Incidental Mutation 'R8515:Kif3b'

656065

Institutional Source

Beutler Lab

Gene Symbol

Kif3b

Ensembl Gene

ENSMUSG00000027475

Gene Name

kinesin family member 3B

Synonyms

MMRRC Submission

067847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153133333-153175310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153158427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 76 (T76M)

Ref Sequence

ENSEMBL: ENSMUSP00000028977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028977]

AlphaFold

Q61771

Predicted Effect

probably damaging
Transcript: ENSMUST00000028977
AA Change: T76M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
AA Change: T76M

Domain	Start	End	E-Value	Type
KISc	7	348	6.36e-186	SMART
low complexity region	370	412	N/A	INTRINSIC
low complexity region	437	458	N/A	INTRINSIC
Blast:KISc	459	535	3e-10	BLAST
low complexity region	537	548	N/A	INTRINSIC
Blast:KISc	549	626	4e-27	BLAST
low complexity region	685	697	N/A	INTRINSIC
low complexity region	714	735	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period. [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
Aak1	A	G	6: 86,902,112 (GRCm39)	M94V	possibly damaging	Het
Acss3	A	G	10: 106,784,524 (GRCm39)	I566T	possibly damaging	Het
Adcy3	T	C	12: 4,262,187 (GRCm39)	V1080A	probably damaging	Het
Aldh1b1	C	T	4: 45,803,818 (GRCm39)	T452I	probably damaging	Het
Bptf	A	T	11: 106,946,064 (GRCm39)	S2392T	possibly damaging	Het
Ccnb2	A	G	9: 70,320,382 (GRCm39)		probably null	Het
Clec4a4	T	A	6: 122,980,982 (GRCm39)	Y72N	probably benign	Het
Clk4	G	A	11: 51,166,088 (GRCm39)	R198Q	probably damaging	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117 (GRCm39)		probably null	Het
Ctbs	T	A	3: 146,164,568 (GRCm39)	Y240*	probably null	Het
Cyp2d22	T	C	15: 82,258,113 (GRCm39)	D169G	probably benign	Het
Dnah11	C	T	12: 117,939,533 (GRCm39)	V3196I	probably damaging	Het
Fam110b	T	C	4: 5,799,380 (GRCm39)	V266A	probably benign	Het
Fbxo40	A	G	16: 36,791,015 (GRCm39)	S32P	probably damaging	Het
Gm4787	T	A	12: 81,424,043 (GRCm39)	H705L	probably benign	Het
Grik1	A	T	16: 87,720,170 (GRCm39)	Y702*	probably null	Het
Hao2	A	T	3: 98,790,963 (GRCm39)	N70K	probably benign	Het
Heatr4	A	G	12: 84,001,478 (GRCm39)	I888T	probably damaging	Het
Herc4	T	A	10: 63,151,565 (GRCm39)	N935K	probably benign	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Kmo	A	T	1: 175,474,718 (GRCm39)	H134L	probably damaging	Het
Lama3	C	A	18: 12,544,688 (GRCm39)	Q344K	probably null	Het
Man2a2	A	T	7: 80,018,038 (GRCm39)	F211I	possibly damaging	Het
Mmp19	T	C	10: 128,631,471 (GRCm39)	I189T	probably benign	Het
Muc4	G	A	16: 32,575,629 (GRCm39)	G1710S	unknown	Het
Myo15b	G	A	11: 115,749,610 (GRCm39)	G127S		Het
Naca	T	C	10: 127,880,112 (GRCm39)	S1715P	possibly damaging	Het
Ndufs4	T	C	13: 114,425,339 (GRCm39)	N163S	probably damaging	Het
Nim1k	G	A	13: 120,173,986 (GRCm39)	R303*	probably null	Het
Nkx6-3	A	T	8: 23,643,707 (GRCm39)	Y36F	possibly damaging	Het
Osbpl10	C	A	9: 115,005,136 (GRCm39)	Q188K	probably benign	Het
Pak6	G	T	2: 118,520,478 (GRCm39)	R156S	probably benign	Het
Pcf11	T	A	7: 92,307,998 (GRCm39)	K723N	possibly damaging	Het
Pcnx1	A	G	12: 82,009,490 (GRCm39)	Y546C	possibly damaging	Het
Pik3r6	A	G	11: 68,430,783 (GRCm39)	Y528C	probably damaging	Het
Ppp3cb	T	A	14: 20,581,844 (GRCm39)	N57I	probably benign	Het
Preb	A	G	5: 31,116,722 (GRCm39)	L57P	probably damaging	Het
Prkdc	A	G	16: 15,482,232 (GRCm39)	D425G	probably damaging	Het
Rab35	G	A	5: 115,781,467 (GRCm39)	V90I	probably damaging	Het
Rab3gap2	G	C	1: 184,995,017 (GRCm39)	S852T	probably benign	Het
Rcn1	C	T	2: 105,219,464 (GRCm39)	R243Q	probably null	Het
Rom1	A	G	19: 8,906,465 (GRCm39)	S25P	probably damaging	Het
Shank3	C	A	15: 89,387,775 (GRCm39)	Y286*	probably null	Het
Sis	T	A	3: 72,836,742 (GRCm39)	I837L	probably benign	Het
Ski	T	C	4: 155,245,083 (GRCm39)	S388G	possibly damaging	Het
Skint1	T	C	4: 111,867,921 (GRCm39)	F16S	probably benign	Het
Slc22a21	T	G	11: 53,846,904 (GRCm39)	D323A	possibly damaging	Het
Slc40a1	G	A	1: 45,951,467 (GRCm39)	T230I	probably damaging	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Spata31h1	T	A	10: 82,124,436 (GRCm39)	D2858V	probably benign	Het
Spdl1	G	A	11: 34,704,252 (GRCm39)	T527I	possibly damaging	Het
Sptb	A	T	12: 76,658,815 (GRCm39)	L1240Q	probably benign	Het
Tef	T	A	15: 81,687,037 (GRCm39)	V18D	possibly damaging	Het
Uckl1	T	C	2: 181,216,280 (GRCm39)	D155G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,037 (GRCm39)	I26V	probably benign	Het
Wac	A	G	18: 7,871,606 (GRCm39)	M46V	probably benign	Het
Wbp1	C	T	6: 83,096,866 (GRCm39)	G146D	probably damaging	Het
Zfand2a	A	C	5: 139,459,546 (GRCm39)	S147A	probably benign	Het
Zfhx4	A	T	3: 5,464,534 (GRCm39)	Y1589F	probably benign	Het
Zfp345	G	C	2: 150,314,348 (GRCm39)	D396E	probably benign	Het

Other mutations in Kif3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kif3b	APN	2	153,159,051 (GRCm39)	missense	probably damaging	0.99
IGL00927:Kif3b	APN	2	153,158,381 (GRCm39)	missense	possibly damaging	0.89
IGL02121:Kif3b	APN	2	153,159,194 (GRCm39)	missense	probably damaging	0.99
IGL02302:Kif3b	APN	2	153,158,868 (GRCm39)	missense	probably damaging	1.00
IGL02306:Kif3b	APN	2	153,162,572 (GRCm39)	missense	probably damaging	1.00
IGL02348:Kif3b	APN	2	153,158,813 (GRCm39)	missense	probably damaging	0.98
IGL03111:Kif3b	APN	2	153,171,988 (GRCm39)	missense	probably benign	0.00
R1463:Kif3b	UTSW	2	153,172,073 (GRCm39)	makesense	probably null
R1474:Kif3b	UTSW	2	153,162,235 (GRCm39)	missense	probably damaging	1.00
R1485:Kif3b	UTSW	2	153,164,851 (GRCm39)	splice site	probably null
R1538:Kif3b	UTSW	2	153,159,382 (GRCm39)	small deletion	probably benign
R1834:Kif3b	UTSW	2	153,159,405 (GRCm39)	missense	probably benign	0.22
R2371:Kif3b	UTSW	2	153,164,743 (GRCm39)	missense	possibly damaging	0.66
R4051:Kif3b	UTSW	2	153,165,477 (GRCm39)	missense	probably damaging	0.99
R4208:Kif3b	UTSW	2	153,165,477 (GRCm39)	missense	probably damaging	0.99
R4504:Kif3b	UTSW	2	153,165,564 (GRCm39)	critical splice donor site	probably null
R4619:Kif3b	UTSW	2	153,158,594 (GRCm39)	nonsense	probably null
R4806:Kif3b	UTSW	2	153,162,288 (GRCm39)	missense	probably damaging	1.00
R4911:Kif3b	UTSW	2	153,159,212 (GRCm39)	nonsense	probably null
R7017:Kif3b	UTSW	2	153,171,644 (GRCm39)	missense	possibly damaging	0.87
R7990:Kif3b	UTSW	2	153,159,383 (GRCm39)	missense	probably benign	0.01
R8056:Kif3b	UTSW	2	153,171,979 (GRCm39)	missense	possibly damaging	0.93
R8503:Kif3b	UTSW	2	153,162,824 (GRCm39)	critical splice donor site	probably null
R9041:Kif3b	UTSW	2	153,159,468 (GRCm39)	missense	probably benign	0.01
R9524:Kif3b	UTSW	2	153,159,460 (GRCm39)	missense	probably benign	0.38
X0026:Kif3b	UTSW	2	153,158,241 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCTCAGAATCAGTCCGGG -3'
(R):5'- TACTGCTGATTCTGAGATCGAG -3'

Sequencing Primer
(F):5'- CTCAGAATCAGTCCGGGTGGTG -3'
(R):5'- GAGATGTGGGTGAAGATGTGATC -3'

Posted On

2020-10-20