Mutagenetix > Incidental Mutation

Incidental Mutation 'R1485:Kif3b'

163376

Institutional Source

Beutler Lab

Gene Symbol

Kif3b

Ensembl Gene

ENSMUSG00000027475

Gene Name

kinesin family member 3B

Synonyms

MMRRC Submission

039538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153133333-153175310 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 153164851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028977 (fasta)

Gene Model

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

AlphaFold

Q61771

Predicted Effect

probably null
Transcript: ENSMUST00000028977

SMART Domains

Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,727,738 (GRCm39)	S301P	probably damaging	Het
AI987944	C	A	7: 41,023,954 (GRCm39)	G342*	probably null	Het
Alox5	A	T	6: 116,401,125 (GRCm39)	F212I	probably damaging	Het
Apaf1	A	T	10: 90,896,105 (GRCm39)	D322E	probably benign	Het
Aste1	T	A	9: 105,275,009 (GRCm39)	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,588,063 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,176,406 (GRCm39)	Y1836C	probably damaging	Het
Castor2	T	A	5: 134,165,972 (GRCm39)	L240Q	probably damaging	Het
Ccdc77	G	A	6: 120,315,101 (GRCm39)	Q183*	probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Coch	G	T	12: 51,645,072 (GRCm39)	V209F	probably damaging	Het
Cops3	G	A	11: 59,718,715 (GRCm39)	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,387 (GRCm39)		probably null	Het
D6Ertd527e	A	T	6: 87,088,067 (GRCm39)	S77C	unknown	Het
Defb7	A	G	8: 19,545,110 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,590,603 (GRCm39)		probably null	Het
Entpd6	T	A	2: 150,610,843 (GRCm39)		probably null	Het
Evc2	C	T	5: 37,527,900 (GRCm39)	A303V	probably benign	Het
Fhod1	T	C	8: 106,063,430 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,712,676 (GRCm39)	F54I	probably benign	Het
Gm7104	C	A	12: 88,252,333 (GRCm39)		noncoding transcript	Het
Grid1	A	T	14: 34,544,540 (GRCm39)	D37V	probably damaging	Het
Icam5	G	A	9: 20,947,702 (GRCm39)	A560T	probably benign	Het
Igf2r	A	C	17: 12,910,172 (GRCm39)	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,153,929 (GRCm39)	V65A	probably benign	Het
Kmt2a	T	G	9: 44,738,225 (GRCm39)		probably benign	Het
Marchf6	T	A	15: 31,498,839 (GRCm39)	T153S	probably damaging	Het
Mcam	T	A	9: 44,048,060 (GRCm39)	I72N	probably damaging	Het
Ncoa4-ps	A	G	12: 119,224,785 (GRCm39)		noncoding transcript	Het
Nkain3	T	C	4: 20,484,932 (GRCm39)	I48M	probably damaging	Het
Nop58	T	A	1: 59,737,504 (GRCm39)	I107N	probably damaging	Het
Notch2	A	G	3: 98,007,573 (GRCm39)	H441R	probably benign	Het
Nr1d1	G	A	11: 98,661,187 (GRCm39)	R360C	probably benign	Het
Or56a5	A	G	7: 104,792,888 (GRCm39)	I210T	probably benign	Het
Pclo	T	C	5: 14,763,793 (GRCm39)	S4089P	unknown	Het
Pi4kb	A	G	3: 94,901,698 (GRCm39)	E455G	probably damaging	Het
Piezo1	T	C	8: 123,208,788 (GRCm39)	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,016,908 (GRCm39)	V283A	possibly damaging	Het
Pramel12	G	A	4: 143,144,188 (GRCm39)	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Rasa2	A	G	9: 96,426,401 (GRCm39)	I815T	probably benign	Het
Rev1	A	T	1: 38,127,653 (GRCm39)	D202E	probably benign	Het
Septin14	C	T	5: 129,770,118 (GRCm39)	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,876,370 (GRCm39)	S112G	probably benign	Het
Siah3	T	A	14: 75,762,994 (GRCm39)	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,250,853 (GRCm39)	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,765,548 (GRCm39)	L313F	probably damaging	Het
Smdt1	T	C	15: 82,230,433 (GRCm39)	V50A	probably benign	Het
Spata31e2	T	G	1: 26,724,961 (GRCm39)	K73T	possibly damaging	Het
Supt3	G	A	17: 45,347,607 (GRCm39)	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492 (GRCm39)	I742T	possibly damaging	Het
Tex44	T	A	1: 86,355,640 (GRCm39)	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,420,917 (GRCm39)	D171E	probably damaging	Het
Trim31	A	C	17: 37,209,568 (GRCm39)	D108A	probably damaging	Het
Ubr1	T	C	2: 120,791,579 (GRCm39)	N135S	probably benign	Het
Uso1	G	A	5: 92,328,422 (GRCm39)	V340I	possibly damaging	Het
Utp6	A	C	11: 79,839,749 (GRCm39)	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,109 (GRCm39)	V554A	possibly damaging	Het
Xdh	C	A	17: 74,221,014 (GRCm39)	E572*	probably null	Het
Zbtb7c	T	C	18: 76,270,061 (GRCm39)	S50P	probably damaging	Het
Zfp672	A	G	11: 58,220,395 (GRCm39)		probably benign	Het
Zzef1	A	G	11: 72,791,635 (GRCm39)		probably null	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
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
R8515:Kif3b	UTSW	2	153,158,427 (GRCm39)	missense	probably damaging	1.00
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'- TCTGCTTGTACCTGAGTAGGAATGACC -3'
(R):5'- GCACACTTCACTTTACAGGGGACAG -3'

Sequencing Primer
(F):5'- acctcctccctcagcatc -3'
(R):5'- TTGAGATCATGGGAAACGCTATACC -3'

Posted On

2014-03-28