Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Cbx7'

513538

Institutional Source

Beutler Lab

Gene Symbol

Cbx7

Ensembl Gene

ENSMUSG00000053411

Gene Name

chromobox 7

Synonyms

D15Ertd417e, 1600014J01Rik

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6371 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

79800008-79855320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79803023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 30 (S30P)

Ref Sequence

ENSEMBL: ENSMUSP00000118871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089293] [ENSMUST00000109615] [ENSMUST00000109616] [ENSMUST00000128931] [ENSMUST00000132821] [ENSMUST00000146719] [ENSMUST00000177044] [ENSMUST00000177098]

AlphaFold

Q8VDS3

Predicted Effect

probably benign
Transcript: ENSMUST00000089293
AA Change: S177P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086708
Gene: ENSMUSG00000053411
AA Change: S177P

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
AA Change: S84P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105244
Gene: ENSMUSG00000053411
AA Change: S84P

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
AA Change: S84P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105245
Gene: ENSMUSG00000053411
AA Change: S84P

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
AA Change: S64P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118813
Gene: ENSMUSG00000053411
AA Change: S64P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132821
AA Change: S30P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118871
Gene: ENSMUSG00000053411
AA Change: S30P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146719
AA Change: S106P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120748
Gene: ENSMUSG00000053411
AA Change: S106P

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

noncoding transcript
Transcript: ENSMUST00000176639

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177098

SMART Domains

Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	31	209	6.8e-37	PFAM
Pfam:APOBEC_C	147	201	6e-23	PFAM
Pfam:APOBEC_N	216	386	1.2e-27	PFAM
Pfam:APOBEC_C	325	378	3.1e-21	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,894 (GRCm39)	S237L	probably damaging	Het
Ank3	T	G	10: 69,644,709 (GRCm39)	L58V	probably damaging	Het
Arsb	A	T	13: 93,926,574 (GRCm39)	I115F	possibly damaging	Het
Atad2b	T	C	12: 5,023,970 (GRCm39)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,598,201 (GRCm39)	M515R	probably benign	Het
Cdk12	A	G	11: 98,136,114 (GRCm39)	T1123A	unknown	Het
Cep170b	A	G	12: 112,707,379 (GRCm39)	D375G	probably damaging	Het
Clcn3	T	C	8: 61,390,369 (GRCm39)	K164E	probably benign	Het
Clip4	A	C	17: 72,163,459 (GRCm39)	K677T	probably damaging	Het
Clrn2	T	C	5: 45,617,540 (GRCm39)	I137T	possibly damaging	Het
Cntln	T	C	4: 84,802,816 (GRCm39)	S39P	probably damaging	Het
Crocc2	T	A	1: 93,143,353 (GRCm39)	N1318K	probably benign	Het
Emc1	C	T	4: 139,098,976 (GRCm39)	Q820*	probably null	Het
Fbxl2	G	A	9: 113,818,451 (GRCm39)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Garin5b	A	G	7: 4,762,358 (GRCm39)	V257A	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hspg2	T	C	4: 137,269,006 (GRCm39)	Y2213H	probably damaging	Het
Ifnar2	T	C	16: 91,184,986 (GRCm39)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,384,431 (GRCm39)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,781,436 (GRCm39)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,741,666 (GRCm39)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,795,800 (GRCm39)		probably null	Het
Ms4a6b	A	G	19: 11,497,728 (GRCm39)	E9G	probably damaging	Het
Nat3	G	A	8: 67,976,831 (GRCm39)		probably null	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nop58	T	G	1: 59,750,471 (GRCm39)		probably benign	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or8s16	A	G	15: 98,211,219 (GRCm39)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,302,575 (GRCm39)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,356,843 (GRCm39)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,368,230 (GRCm39)	T37I	probably benign	Het
Reln	T	A	5: 22,200,511 (GRCm39)	M1330L	probably benign	Het
Ric1	A	G	19: 29,539,426 (GRCm39)	E53G	probably benign	Het
Sgip1	T	A	4: 102,823,482 (GRCm39)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,850,709 (GRCm39)	D538E	probably benign	Het
Son	T	C	16: 91,471,629 (GRCm39)			Het
Srebf1	A	T	11: 60,094,341 (GRCm39)	S591R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,469,319 (GRCm39)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,845,688 (GRCm39)	V210E	probably benign	Het
Ttc6	T	A	12: 57,775,249 (GRCm39)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,636,131 (GRCm39)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,349,362 (GRCm39)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,040,460 (GRCm39)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 72,643,329 (GRCm39)	Y252N	probably damaging	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
R7803:Cbx7	UTSW	15	79,818,024 (GRCm39)	missense	unknown
R8065:Cbx7	UTSW	15	79,818,099 (GRCm39)	missense	unknown
R8067: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'- ACACGCTTGAAGCAGGATGC -3'
(R):5'- CCAAGGGCAATGAGAAGCTC -3'

Sequencing Primer
(F):5'- GTGCACCTGCCTAGCTAGCTATAG -3'
(R):5'- CCATGGGGGTGGTCAAGG -3'

Posted On

2018-04-27