Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Cbx3'

396277

Institutional Source

Beutler Lab

Gene Symbol

Cbx3

Ensembl Gene

ENSMUSG00000029836

Gene Name

chromobox 3

Synonyms

M32, heterochromatin protein 1 gamma, HP1g

MMRRC Submission

042724-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.543) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51447596-51460684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51452269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 28 (E28G)

Ref Sequence

ENSEMBL: ENSMUSP00000121370 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031862
AA Change: E28G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836
AA Change: E28G

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 damaging
Transcript: ENSMUST00000094623
AA Change: E28G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836
AA Change: E28G

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 damaging
Transcript: ENSMUST00000114445
AA Change: E28G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836
AA Change: E28G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114446
AA Change: E28G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836
AA Change: E28G

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 damaging
Transcript: ENSMUST00000141711
AA Change: E28G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836
AA Change: E28G

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

noncoding transcript
Transcript: ENSMUST00000203404

Meta Mutation Damage Score

0.2391

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Serpinf1	T	C	11: 75,305,854 (GRCm39)	E178G	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	probably damaging	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
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'- GCTTACACTGGATCAAGGAAGTT -3'
(R):5'- AGCACCGTTAAAGGTACTAACTT -3'

Sequencing Primer
(F):5'- TACACTGGATCAAGGAAGTTTAAAG -3'
(R):5'- ACTCACTTTAGTAGACCAGGCTGG -3'

Posted On

2016-06-21