Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:Cbx3'

266050

Institutional Source

Beutler Lab

Gene Symbol

Cbx3

Ensembl Gene

ENSMUSG00000029836

Gene Name

chromobox 3

Synonyms

M32, heterochromatin protein 1 gamma, HP1g

MMRRC Submission

040044-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51447596-51460684 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51448793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031862] [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000094623] [ENSMUST00000114445] [ENSMUST00000114445] [ENSMUST00000114446] [ENSMUST00000114446] [ENSMUST00000114459] [ENSMUST00000141711] [ENSMUST00000141711] [ENSMUST00000204188] [ENSMUST00000203220] [ENSMUST00000204158] [ENSMUST00000203954]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031862

SMART Domains

Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069949

SMART Domains

Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	5.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090002

SMART Domains

Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000094623

SMART Domains

Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114445

SMART Domains

Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
Pfam:Chromo	30	60	1.4e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114445

SMART Domains

Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
Pfam:Chromo	30	60	1.4e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114446

SMART Domains

Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114446

SMART Domains

Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114459

SMART Domains

Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141711

SMART Domains

Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	109	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141711

SMART Domains

Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	109	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156463

Predicted Effect

probably benign
Transcript: ENSMUST00000204188

SMART Domains

Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205204

Predicted Effect

probably benign
Transcript: ENSMUST00000203220

SMART Domains

Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204158

SMART Domains

Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203954

SMART Domains

Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	22	94	1.51e-23	SMART
RRM	113	185	7.64e-20	SMART
low complexity region	198	307	N/A	INTRINSIC
low complexity region	322	353	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trap allele are infertile. Mice homozygous for a hypomorphic targeted allele exhibit partial postnatal lethality and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Ccnt2	A	G	1: 127,731,136 (GRCm39)	Y671C	probably damaging	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pappa2	A	T	1: 158,784,214 (GRCm39)	Y265*	probably null	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tas1r1	A	G	4: 152,112,627 (GRCm39)	F809L	probably damaging	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,385,529 (GRCm39)	T540K	probably benign	Het

Other mutations in Cbx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Cbx3	APN	6	51,452,281 (GRCm39)	missense	probably damaging	0.97
R4877:Cbx3	UTSW	6	51,459,540 (GRCm39)	missense	possibly damaging	0.59
R5138:Cbx3	UTSW	6	51,452,269 (GRCm39)	missense	probably damaging	1.00
R5518:Cbx3	UTSW	6	51,458,726 (GRCm39)	missense	probably benign	0.12
R7350:Cbx3	UTSW	6	51,452,355 (GRCm39)	critical splice donor site	probably null
R7465:Cbx3	UTSW	6	51,455,510 (GRCm39)	missense	probably benign	0.00
R8093:Cbx3	UTSW	6	51,458,748 (GRCm39)	missense	possibly damaging	0.72
R8230:Cbx3	UTSW	6	51,452,281 (GRCm39)	missense	probably damaging	0.97
R8244:Cbx3	UTSW	6	51,452,350 (GRCm39)	missense	probably benign	0.00
R9151:Cbx3	UTSW	6	51,455,533 (GRCm39)	missense	probably benign	0.00
X0020:Cbx3	UTSW	6	51,458,732 (GRCm39)	missense	probably benign	0.20
X0025:Cbx3	UTSW	6	51,459,495 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAGTTGTCTGAGGTACCAGTG -3'
(R):5'- TCCACCACAGGTTCTAGCTC -3'

Sequencing Primer
(F):5'- TCTGAGGTACCAGTGTTTTAGTAAG -3'
(R):5'- TCACAAACTTACCAATGTAGT -3'

Posted On

2015-02-05