Mutagenetix > Incidental Mutation

Incidental Mutation 'R6400:Cbx8'

516137

Institutional Source

Beutler Lab

Gene Symbol

Cbx8

Ensembl Gene

ENSMUSG00000025578

Gene Name

chromobox 8

Synonyms

Pc3, polycomb 3

MMRRC Submission

044547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118929262-118931739 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 118929694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 300 (Q300*)

Ref Sequence

ENSEMBL: ENSMUSP00000026663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026663]

AlphaFold

Q9QXV1

PDB Structure

Solution Structure of RSGI RUH-055, a Chromo Domain from Mus musculus cDNA [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000026663
AA Change: Q300*

SMART Domains

Protein: ENSMUSP00000026663
Gene: ENSMUSG00000025578
AA Change: Q300*

Domain	Start	End	E-Value	Type
CHROMO	10	62	2.91e-18	SMART
low complexity region	82	90	N/A	INTRINSIC
low complexity region	140	153	N/A	INTRINSIC
low complexity region	159	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143831

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.2%

Validation Efficiency

100% (32/32)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired MLL-AF9 transformation but are otherwise viable with normal hematopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,638,435 (GRCm39)	*160Q	probably null	Het
Aen	G	A	7: 78,557,142 (GRCm39)	G330E	probably benign	Het
Akap8l	G	A	17: 32,555,294 (GRCm39)	R262C	probably damaging	Het
Cd274	C	T	19: 29,362,808 (GRCm39)	T290M	probably damaging	Het
Cd36	A	C	5: 18,019,721 (GRCm39)	S127A	probably damaging	Het
Celf3	A	G	3: 94,387,593 (GRCm39)	Y55C	probably damaging	Het
Clec1a	A	T	6: 129,412,316 (GRCm39)		probably null	Het
Cog2	A	T	8: 125,277,045 (GRCm39)	I684F	probably damaging	Het
Cyp2c65	C	T	19: 39,049,558 (GRCm39)	L29F	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Dytn	A	T	1: 63,680,335 (GRCm39)	L408*	probably null	Het
Flg	A	G	3: 93,187,228 (GRCm39)	T227A	probably benign	Het
Heatr4	T	A	12: 84,001,784 (GRCm39)	K887M	probably null	Het
Hoxb1	C	T	11: 96,256,818 (GRCm39)	Q56*	probably null	Het
Kcnh7	T	A	2: 62,569,688 (GRCm39)	N736I	probably damaging	Het
Lgr4	T	C	2: 109,821,478 (GRCm39)	V120A	probably damaging	Het
Ltbp1	A	G	17: 75,458,397 (GRCm39)	Y326C	possibly damaging	Het
Map3k1	A	T	13: 111,892,259 (GRCm39)	S999T	probably damaging	Het
Med12l	T	C	3: 59,155,332 (GRCm39)	F1171L	probably damaging	Het
Muc5b	T	C	7: 141,412,402 (GRCm39)	S1783P	unknown	Het
Nbr1	T	C	11: 101,456,600 (GRCm39)	L159P	probably damaging	Het
Nme9	T	C	9: 99,351,760 (GRCm39)	F248S	possibly damaging	Het
Or4x11	C	T	2: 89,867,739 (GRCm39)	L159F	probably benign	Het
Or6k2	T	C	1: 173,986,830 (GRCm39)	S164P	probably damaging	Het
Rasgrf1	C	T	9: 89,873,683 (GRCm39)	T664I	probably damaging	Het
Setx	A	G	2: 29,020,286 (GRCm39)	D91G	probably damaging	Het
Stim1	A	G	7: 102,080,157 (GRCm39)	R514G	probably null	Het
Svep1	C	A	4: 58,049,169 (GRCm39)	G3446V	probably damaging	Het
Tcte2	T	A	17: 13,942,714 (GRCm39)		probably benign	Het
Trmt10b	A	G	4: 45,308,562 (GRCm39)	K239E	probably damaging	Het
Wdr70	A	T	15: 8,072,322 (GRCm39)	S189T	probably benign	Het

Other mutations in Cbx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1213:Cbx8	UTSW	11	118,930,359 (GRCm39)	splice site	probably null
R1299:Cbx8	UTSW	11	118,931,676 (GRCm39)	start codon destroyed	probably null	0.99
R4497:Cbx8	UTSW	11	118,931,618 (GRCm39)	missense	probably damaging	1.00
R5282:Cbx8	UTSW	11	118,929,742 (GRCm39)	missense	probably damaging	0.98
R5695:Cbx8	UTSW	11	118,930,137 (GRCm39)	missense	probably benign
R6237:Cbx8	UTSW	11	118,931,213 (GRCm39)	missense	possibly damaging	0.95
R6980:Cbx8	UTSW	11	118,930,287 (GRCm39)	missense	possibly damaging	0.73
R7697:Cbx8	UTSW	11	118,931,637 (GRCm39)	nonsense	probably null
R8428:Cbx8	UTSW	11	118,929,754 (GRCm39)	missense	probably damaging	0.97
R9013:Cbx8	UTSW	11	118,929,649 (GRCm39)	missense	possibly damaging	0.93
R9553:Cbx8	UTSW	11	118,930,964 (GRCm39)	missense	probably damaging	1.00
Z1176:Cbx8	UTSW	11	118,929,945 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AATCCTTGGTCCGTGTTGC -3'
(R):5'- TGATCCAGCTTGCTCGAAGG -3'

Sequencing Primer
(F):5'- GCTCTCCTTAATGGTGACGGTC -3'
(R):5'- CTCAGACCTGGTGCAATATGG -3'

Posted On

2018-05-04