Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Cbx4'

294152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbx4

Ensembl Gene

ENSMUSG00000039989

Gene Name

chromobox 4

Synonyms

PC2, MPc2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

118968399-118977047 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 118972938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 146 (K146*)

Ref Sequence

ENSEMBL: ENSMUSP00000026665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026665]

AlphaFold

O55187

Predicted Effect

probably null
Transcript: ENSMUST00000026665
AA Change: K146*

SMART Domains

Protein: ENSMUSP00000026665
Gene: ENSMUSG00000039989
AA Change: K146*

Domain	Start	End	E-Value	Type
CHROMO	10	62	5.23e-20	SMART
low complexity region	138	152	N/A	INTRINSIC
low complexity region	209	230	N/A	INTRINSIC
low complexity region	311	323	N/A	INTRINSIC
low complexity region	488	520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181285

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene results in complete neonatal lethality and severe thymus hypoplasia as a result of reduced thymocyte proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,584 (GRCm39)	Y174*	probably null	Het
Apc	C	A	18: 34,446,935 (GRCm39)	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578 (GRCm39)	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,159,458 (GRCm39)	F79I	probably damaging	Het
Brip1	G	T	11: 85,955,925 (GRCm39)	L863I	possibly damaging	Het
Ces1a	C	T	8: 93,766,126 (GRCm39)	V163I	possibly damaging	Het
Ces5a	C	T	8: 94,255,272 (GRCm39)		probably benign	Het
Cfhr1	A	C	1: 139,484,131 (GRCm39)	N128K	possibly damaging	Het
Clcn3	T	C	8: 61,394,391 (GRCm39)	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,068,955 (GRCm39)	I166S	probably benign	Het
Cntnap3	A	T	13: 64,946,872 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,714,739 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,430 (GRCm39)	V626E	probably damaging	Het
Dele1	T	A	18: 38,394,177 (GRCm39)	L458Q	probably damaging	Het
Gcm2	T	C	13: 41,256,477 (GRCm39)	Y424C	probably benign	Het
Gm9964	A	G	11: 79,187,196 (GRCm39)	F84L	probably damaging	Het
Grn	T	A	11: 102,326,930 (GRCm39)	D509E	probably benign	Het
Iho1	G	T	9: 108,283,820 (GRCm39)	T208K	probably benign	Het
Kdm5c	G	A	X: 151,029,314 (GRCm39)	D343N	probably damaging	Het
Ly75	C	T	2: 60,124,125 (GRCm39)	M1717I	probably benign	Het
Map1a	C	A	2: 121,129,134 (GRCm39)	P133T	probably damaging	Het
Mpp2	C	A	11: 101,950,199 (GRCm39)	A552S	possibly damaging	Het
Mtr	T	C	13: 12,213,980 (GRCm39)	I897M	probably damaging	Het
Npas3	A	T	12: 54,095,550 (GRCm39)	I337F	probably damaging	Het
Nup85	T	C	11: 115,472,691 (GRCm39)		probably benign	Het
Or10a49	A	G	7: 108,468,257 (GRCm39)	Y35H	probably benign	Het
Or10al2	T	A	17: 37,983,340 (GRCm39)	M142K	possibly damaging	Het
Or2t46	T	A	11: 58,472,024 (GRCm39)	L118H	possibly damaging	Het
Or51l4	T	A	7: 103,404,700 (GRCm39)	I31F	possibly damaging	Het
Or56a5	T	C	7: 104,792,966 (GRCm39)	N178S	probably damaging	Het
Pdia4	A	T	6: 47,780,429 (GRCm39)	D301E	probably benign	Het
Phf2	C	A	13: 48,982,322 (GRCm39)	G134C	unknown	Het
Polr2h	T	A	16: 20,539,352 (GRCm39)	L76H	probably damaging	Het
Rbm47	G	A	5: 66,184,364 (GRCm39)	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,507,837 (GRCm39)	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,447,179 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,227,991 (GRCm39)	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,101,372 (GRCm39)	H46P	probably damaging	Het
Tbck	A	G	3: 132,440,475 (GRCm39)		probably benign	Het
Tmtc4	A	T	14: 123,163,374 (GRCm39)		probably null	Het
Ttc13	T	C	8: 125,417,100 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,193,130 (GRCm39)		probably benign	Het
Vmn1r121	T	A	7: 20,832,438 (GRCm39)	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,860,258 (GRCm39)	S2825P	probably damaging	Het
Zan	A	C	5: 137,445,106 (GRCm39)	S1718A	unknown	Het
Zfp39	G	T	11: 58,793,626 (GRCm39)	Y37*	probably null	Het
Zfp407	T	C	18: 84,576,766 (GRCm39)	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,687,035 (GRCm39)	D801E	possibly damaging	Het

Other mutations in Cbx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1034:Cbx4	UTSW	11	118,972,533 (GRCm39)	missense	probably damaging	1.00
R2113:Cbx4	UTSW	11	118,972,718 (GRCm39)	missense	probably damaging	1.00
R4995:Cbx4	UTSW	11	118,972,037 (GRCm39)	missense	probably benign	0.01
R5226:Cbx4	UTSW	11	118,972,754 (GRCm39)	missense	probably damaging	0.99
R5893:Cbx4	UTSW	11	118,973,016 (GRCm39)	missense	probably damaging	1.00
R6398:Cbx4	UTSW	11	118,971,908 (GRCm39)	missense	probably damaging	1.00
R7140:Cbx4	UTSW	11	118,972,754 (GRCm39)	missense	probably damaging	0.99
R7811:Cbx4	UTSW	11	118,972,398 (GRCm39)	missense	probably benign	0.00
X0064:Cbx4	UTSW	11	118,975,419 (GRCm39)	missense	probably damaging	1.00
Z1177:Cbx4	UTSW	11	118,976,592 (GRCm39)	nonsense	probably null

Posted On

2015-04-16