Mutagenetix > Incidental Mutation

Incidental Mutation 'R8067:Cbx7'

620073

Institutional Source

Beutler Lab

Gene Symbol

Cbx7

Ensembl Gene

ENSMUSG00000053411

Gene Name

chromobox 7

Synonyms

D15Ertd417e, 1600014J01Rik

MMRRC Submission

067502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79800008-79855320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79818099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1 (V1D)

Ref Sequence

ENSEMBL: ENSMUSP00000120748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089293] [ENSMUST00000109615] [ENSMUST00000109616] [ENSMUST00000128931] [ENSMUST00000132821] [ENSMUST00000146719] [ENSMUST00000177044]

AlphaFold

Q8VDS3

Predicted Effect

probably benign
Transcript: ENSMUST00000089293

SMART Domains

Protein: ENSMUSP00000086708
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
CHROMO	10	62	3.12e-18	SMART
low complexity region	68	85	N/A	INTRINSIC
low complexity region	190	202	N/A	INTRINSIC
PDB:3GS2\|D	219	248	2e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109615

SMART Domains

Protein: ENSMUSP00000105244
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
CHROMO	10	62	3.12e-18	SMART
low complexity region	70	81	N/A	INTRINSIC
low complexity region	97	109	N/A	INTRINSIC
PDB:3GS2\|D	126	155	1e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109616

SMART Domains

Protein: ENSMUSP00000105245
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
CHROMO	10	62	3.12e-18	SMART
low complexity region	70	81	N/A	INTRINSIC
low complexity region	97	109	N/A	INTRINSIC
PDB:3GS2\|D	126	155	1e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128931

SMART Domains

Protein: ENSMUSP00000118813
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	77	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132821

SMART Domains

Protein: ENSMUSP00000118871
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000146719
AA Change: V1D

SMART Domains

Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411
AA Change: V1D

Domain	Start	End	E-Value	Type
CHROMO	2	84	4.03e-12	SMART
low complexity region	92	103	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
PDB:3GS2\|D	148	177	6e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000177044

SMART Domains

Protein: ENSMUSP00000135246
Gene: ENSMUSG00000053411

Domain	Start	End	E-Value	Type
CHROMO	10	56	3.71e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body length and develop liver and lung adenomas and carcinomas while mutant embryonic fibriblasts show a higher growth rate and reduced susceptibility to senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	T	8: 13,608,643 (GRCm39)	D145E	possibly damaging	Het
Adcy7	T	C	8: 89,037,697 (GRCm39)	L255P	probably damaging	Het
Cd209c	A	C	8: 3,995,700 (GRCm39)	M34R	probably benign	Het
Chodl	A	T	16: 78,743,601 (GRCm39)	L229F	probably damaging	Het
Depdc5	C	A	5: 33,053,252 (GRCm39)	N197K	possibly damaging	Het
Dnai1	T	A	4: 41,614,258 (GRCm39)	D311E	probably damaging	Het
Dop1a	A	G	9: 86,400,392 (GRCm39)	Y1017C	probably benign	Het
Dop1b	T	A	16: 93,562,336 (GRCm39)	L927*	probably null	Het
Dpp10	A	G	1: 123,280,389 (GRCm39)	S646P	probably benign	Het
Ebf1	G	A	11: 44,511,374 (GRCm39)	V90M	probably benign	Het
Efhd1	C	T	1: 87,192,313 (GRCm39)	P48S	probably benign	Het
Fam83b	T	C	9: 76,398,380 (GRCm39)	T908A	probably benign	Het
Fbxl16	G	A	17: 26,036,957 (GRCm39)	V313I	probably damaging	Het
Git2	C	T	5: 114,904,579 (GRCm39)	M113I	probably damaging	Het
Gpr87	T	A	3: 59,087,308 (GRCm39)	I66F	probably damaging	Het
H60c	A	C	10: 3,209,338 (GRCm39)	L217V	unknown	Het
Iba57	T	C	11: 59,054,086 (GRCm39)		probably benign	Het
Igkv11-125	C	A	6: 67,890,814 (GRCm39)	T44N	probably benign	Het
Itih2	T	A	2: 10,128,294 (GRCm39)	I136F	probably damaging	Het
Itpr3	T	A	17: 27,329,836 (GRCm39)	D1543E	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	A	T	16: 34,792,389 (GRCm39)	E1570V	probably benign	Het
N4bp2	T	A	5: 65,964,639 (GRCm39)	L896H	probably damaging	Het
Ndc1	T	A	4: 107,247,595 (GRCm39)	S468T	probably benign	Het
Ndst3	T	C	3: 123,395,094 (GRCm39)	N512S	probably damaging	Het
Or51b6	A	G	7: 103,555,610 (GRCm39)		probably benign	Het
Or5w15	T	A	2: 87,568,147 (GRCm39)	I174F	probably damaging	Het
Plekhn1	T	C	4: 156,312,697 (GRCm39)	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,622,968 (GRCm39)	E350G	probably null	Het
Prpf8	T	C	11: 75,390,976 (GRCm39)	W1342R	probably damaging	Het
Pum1	T	C	4: 130,478,836 (GRCm39)	V486A	possibly damaging	Het
Rin2	T	G	2: 145,702,977 (GRCm39)	S558A	probably damaging	Het
Ripk4	A	T	16: 97,564,737 (GRCm39)	V58D	probably damaging	Het
Smyd3	A	G	1: 179,238,028 (GRCm39)	M113T	possibly damaging	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tasor2	C	T	13: 3,619,602 (GRCm39)	V2210I	probably benign	Het
Tmed2	T	C	5: 124,684,986 (GRCm39)	I134T	possibly damaging	Het
Washc2	T	A	6: 116,201,464 (GRCm39)	S353R	probably damaging	Het
Xdh	T	A	17: 74,207,652 (GRCm39)	R902W	probably benign	Het
Zbtb5	A	T	4: 44,994,972 (GRCm39)	S137R	probably benign	Het
Zfp286	A	T	11: 62,644,345 (GRCm39)	I192K	unknown	Het
Zfp942	T	C	17: 22,149,391 (GRCm39)	Y38C	probably damaging	Het
Zfpm1	T	C	8: 123,062,323 (GRCm39)	S461P	probably benign	Het

Other mutations in Cbx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Cbx7	APN	15	79,814,829 (GRCm39)	missense	probably damaging	1.00
IGL02601:Cbx7	APN	15	79,807,671 (GRCm39)	critical splice donor site	probably null
IGL02798:Cbx7	APN	15	79,802,600 (GRCm39)	missense	probably damaging	1.00
R1372:Cbx7	UTSW	15	79,803,074 (GRCm39)	missense	probably damaging	1.00
R1373:Cbx7	UTSW	15	79,803,074 (GRCm39)	missense	probably damaging	1.00
R1985:Cbx7	UTSW	15	79,802,591 (GRCm39)	missense	probably damaging	1.00
R2240:Cbx7	UTSW	15	79,802,558 (GRCm39)	missense	probably damaging	1.00
R6371:Cbx7	UTSW	15	79,803,023 (GRCm39)	missense	possibly damaging	0.83
R7803:Cbx7	UTSW	15	79,818,024 (GRCm39)	missense	unknown
R8065:Cbx7	UTSW	15	79,818,099 (GRCm39)	missense	unknown
R9525:Cbx7	UTSW	15	79,814,797 (GRCm39)	missense	probably damaging	0.98
Z1177:Cbx7	UTSW	15	79,818,085 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACCCACTTTTGCCGTCTG -3'
(R):5'- CTTCGCCAGACATAGGTGCTTAG -3'

Sequencing Primer
(F):5'- GCCCTTGGTTTGCTGACCG -3'
(R):5'- CAGACATAGGTGCTTAGAGTTTATTC -3'

Posted On

2020-01-23