Mutagenetix > Incidental Mutation

Incidental Mutation 'R4208:Kif3b'

319010

Institutional Source

Beutler Lab

Gene Symbol

Kif3b

Ensembl Gene

ENSMUSG00000027475

Gene Name

kinesin family member 3B

Synonyms

MMRRC Submission

041037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153133333-153175310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153165477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 628 (R628Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028977 (fasta)

Gene Model

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

AlphaFold

Q61771

Predicted Effect

probably damaging
Transcript: ENSMUST00000028977
AA Change: R628Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
AA Change: R628Q

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

Meta Mutation Damage Score

0.1190

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (57/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,910,060 (GRCm39)	L284P	probably benign	Het
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ace2	A	G	X: 162,952,581 (GRCm39)	I110V	probably benign	Het
Adamts12	A	G	15: 11,071,840 (GRCm39)	H128R	probably benign	Het
Aoc1l2	A	T	6: 48,908,581 (GRCm39)	D527V	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
B4galnt3	A	G	6: 120,192,063 (GRCm39)	S557P	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Casp12	T	C	9: 5,346,629 (GRCm39)	L52P	probably damaging	Het
Cep126	C	T	9: 8,100,822 (GRCm39)	E571K	probably damaging	Het
Cfhr1	A	G	1: 139,475,616 (GRCm39)		probably benign	Het
Cmah	A	G	13: 24,601,410 (GRCm39)		probably null	Het
Col10a1	C	T	10: 34,271,539 (GRCm39)	P504S	probably damaging	Het
Ctnna3	T	A	10: 64,795,557 (GRCm39)	D758E	probably benign	Het
Cyp2c65	T	C	19: 39,079,099 (GRCm39)	S393P	probably damaging	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
F13b	G	T	1: 139,444,079 (GRCm39)	W471L	probably damaging	Het
Fam181a	A	G	12: 103,282,173 (GRCm39)	D26G	probably damaging	Het
Gabpb2	A	G	3: 95,111,245 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,879 (GRCm39)		noncoding transcript	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Lars1	T	C	18: 42,362,768 (GRCm39)	E557G	probably benign	Het
Ldlrad3	C	T	2: 101,783,507 (GRCm39)	D240N	probably damaging	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Lsr	A	G	7: 30,672,519 (GRCm39)	I27T	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Met	T	C	6: 17,548,728 (GRCm39)	V924A	possibly damaging	Het
Mpp3	T	C	11: 101,891,426 (GRCm39)	T571A	probably benign	Het
Or4c1	A	T	2: 89,133,270 (GRCm39)	I222N	probably damaging	Het
Or52n3	A	G	7: 104,530,810 (GRCm39)	T299A	probably damaging	Het
Padi1	C	A	4: 140,544,538 (GRCm39)	V552L	possibly damaging	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
RP24-126A19.1	C	A	5: 146,832,606 (GRCm39)	R123L	noncoding transcript	Het
Scn10a	T	A	9: 119,445,842 (GRCm39)	E1438V	probably damaging	Het
Sfmbt2	T	A	2: 10,547,793 (GRCm39)	D458E	probably damaging	Het
Slitrk3	T	A	3: 72,958,490 (GRCm39)	Y94F	possibly damaging	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Steap4	A	G	5: 8,030,404 (GRCm39)	Y420C	probably damaging	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trbv23	A	T	6: 41,193,022 (GRCm39)	I6F	probably benign	Het
Vmn1r87	A	G	7: 12,866,185 (GRCm39)	V34A	probably benign	Het
Zc3h7a	C	T	16: 10,982,508 (GRCm39)	E6K	possibly damaging	Het
Zfp606	G	A	7: 12,228,102 (GRCm39)	C683Y	probably damaging	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
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'- AAGCCTTGGTCTCAGGAGTTC -3'
(R):5'- TCTCAAACCTAAATTCCTCTGGAAG -3'

Sequencing Primer
(F):5'- AGGAGTTCCTGCTTTGAGTTCTTAC -3'
(R):5'- CTGCCAAGCCTGACAATAGAGTTTG -3'

Posted On

2015-06-10