Mutagenetix > Incidental Mutation

Incidental Mutation 'R5518:Cbx3'

431397

Institutional Source

Beutler Lab

Gene Symbol

Cbx3

Ensembl Gene

ENSMUSG00000029836

Gene Name

chromobox 3

Synonyms

M32, heterochromatin protein 1 gamma, HP1g

MMRRC Submission

043077-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

R5518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51447596-51460684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51458726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 64 (P64S)

Ref Sequence

ENSEMBL: ENSMUSP00000110088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031862] [ENSMUST00000094623] [ENSMUST00000114445] [ENSMUST00000114446] [ENSMUST00000141711]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031862
AA Change: A118V

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

SMART Domains

Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836
AA Change: A118V

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: ENSMUST00000094623
AA Change: A118V

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

SMART Domains

Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836
AA Change: A118V

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: ENSMUST00000114445
AA Change: P64S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836
AA Change: P64S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114446
AA Change: A118V

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

SMART Domains

Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836
AA Change: A118V

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: 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: ENSMUST00000203404

Meta Mutation Damage Score

0.0928

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,769,873 (GRCm39)	E881K	probably benign	Het
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Abl1	T	A	2: 31,680,754 (GRCm39)	C349S	probably damaging	Het
Acot11	C	A	4: 106,607,207 (GRCm39)	V459L	probably benign	Het
Ank2	A	T	3: 126,753,348 (GRCm39)	V311D	probably damaging	Het
Ankrd11	C	G	8: 123,617,733 (GRCm39)	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,525,869 (GRCm39)	I359V	probably benign	Het
Armc3	T	G	2: 19,302,739 (GRCm39)	L684V	probably benign	Het
Asb10	G	A	5: 24,744,643 (GRCm39)	P184S	probably damaging	Het
Atp10b	T	C	11: 43,042,463 (GRCm39)	S8P	possibly damaging	Het
Blk	G	T	14: 63,615,956 (GRCm39)	S324R	possibly damaging	Het
C4b	G	C	17: 34,953,416 (GRCm39)	N1022K	probably benign	Het
Card6	G	T	15: 5,134,696 (GRCm39)	T169K	probably damaging	Het
Catsper2	T	C	2: 121,236,844 (GRCm39)	T268A	possibly damaging	Het
Chchd6	A	G	6: 89,544,567 (GRCm39)		probably null	Het
Cntn1	G	A	15: 92,212,534 (GRCm39)	E899K	probably benign	Het
Col6a4	A	T	9: 105,949,387 (GRCm39)	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779 (GRCm39)	N84T	probably benign	Het
Dcxr	A	C	11: 120,617,025 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,242,818 (GRCm39)	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,313,596 (GRCm39)	C221F	probably damaging	Het
Exoc3l	T	C	8: 106,019,795 (GRCm39)	N353D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
G3bp2	T	A	5: 92,216,347 (GRCm39)	H63L	probably benign	Het
Galnt17	A	G	5: 130,929,428 (GRCm39)	Y460H	probably damaging	Het
Gm6003	T	A	7: 32,865,004 (GRCm39)		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,726,154 (GRCm39)	L23P	probably damaging	Het
Ins1	T	C	19: 52,253,177 (GRCm39)	L39P	probably damaging	Het
Itpr3	T	G	17: 27,306,566 (GRCm39)	V210G	probably damaging	Het
Klrb1	T	A	6: 128,683,488 (GRCm39)	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,408,596 (GRCm39)	F177I	probably damaging	Het
Lrrc37	A	T	11: 103,506,079 (GRCm39)	I1963K	probably benign	Het
Mcat	A	G	15: 83,431,875 (GRCm39)		probably null	Het
Mknk2	A	T	10: 80,504,475 (GRCm39)	C229S	possibly damaging	Het
Mta2	C	A	19: 8,925,456 (GRCm39)	Q362K	probably benign	Het
Ndst4	T	C	3: 125,232,105 (GRCm39)	Y225H	probably benign	Het
Or4d11	T	C	19: 12,013,429 (GRCm39)	R226G	probably damaging	Het
Pcdha1	A	G	18: 37,065,415 (GRCm39)	D693G	probably benign	Het
Pik3r5	G	A	11: 68,368,294 (GRCm39)	D100N	possibly damaging	Het
Pld3	T	C	7: 27,231,796 (GRCm39)	D465G	probably damaging	Het
Prkdc	T	C	16: 15,496,172 (GRCm39)	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,120,143 (GRCm39)	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,823,354 (GRCm39)	M475K	probably benign	Het
Rbak	A	G	5: 143,159,064 (GRCm39)	L663P	probably damaging	Het
Rnf17	A	G	14: 56,719,590 (GRCm39)	N947D	probably damaging	Het
Ryr2	T	C	13: 11,702,795 (GRCm39)	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,917,087 (GRCm39)	L194R	probably damaging	Het
Smg6	T	C	11: 74,944,724 (GRCm39)	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,292,342 (GRCm39)	V269E	possibly damaging	Het
Snx14	G	T	9: 88,265,855 (GRCm39)	P760Q	probably damaging	Het
Sorl1	T	C	9: 41,948,508 (GRCm39)	E759G	possibly damaging	Het
Sspo	C	T	6: 48,473,588 (GRCm39)	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,991,944 (GRCm39)	F1970I	possibly damaging	Het
Tekt3	C	A	11: 62,974,768 (GRCm39)	H362Q	probably benign	Het
Tmem121	T	C	12: 113,152,547 (GRCm39)	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,802,534 (GRCm39)	T614A	probably benign	Het
Tnc	T	C	4: 63,935,916 (GRCm39)	D340G	probably damaging	Het
Ttc28	A	T	5: 111,373,794 (GRCm39)	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,952,238 (GRCm39)	D8G	probably benign	Het
Vwde	T	C	6: 13,186,937 (GRCm39)	N850S	probably benign	Het
Zfp280d	A	G	9: 72,231,417 (GRCm39)	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818 (GRCm39)	C595R	probably damaging	Het
Zfp768	A	G	7: 126,943,583 (GRCm39)	S182P	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
R2037:Cbx3	UTSW	6	51,448,793 (GRCm39)	splice site	probably null
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
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'- GCATGTTTTCAAGTCAAACTGTGG -3'
(R):5'- CAGTGAGACCCTGTTTAACCTCTG -3'

Sequencing Primer
(F):5'- CAAGTCAAACTGTGGTTCTTGTTC -3'
(R):5'- GACTGGGACTCCATAAAGCTGTC -3'

Posted On

2016-10-05