Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Cbx4'

232818

Institutional Source

Beutler Lab

Gene Symbol

Cbx4

Ensembl Gene

ENSMUSG00000039989

Gene Name

chromobox 4

Synonyms

PC2, MPc2

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119077573-119086221 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119081892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 219 (G219E)

Ref Sequence

ENSEMBL: ENSMUSP00000026665 (fasta)

Gene Model

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

AlphaFold

O55187

Predicted Effect

probably damaging
Transcript: ENSMUST00000026665
AA Change: G219E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026665
Gene: ENSMUSG00000039989
AA Change: G219E

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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,772 (GRCm38)	V549A	probably benign	Het
Abcd4	C	A	12: 84,609,016 (GRCm38)	G295*	probably null	Het
Acad9	T	C	3: 36,074,376 (GRCm38)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,898,124 (GRCm38)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,481,115 (GRCm38)	N300K	probably damaging	Het
Adh5	A	G	3: 138,451,484 (GRCm38)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,913,389 (GRCm38)	A842V	possibly damaging	Het
AI429214	A	T	8: 36,994,000 (GRCm38)	K101*	probably null	Het
Alg10b	T	A	15: 90,225,657 (GRCm38)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,305,683 (GRCm38)	E1347K	probably benign	Het
Amotl2	G	T	9: 102,724,723 (GRCm38)	E389*	probably null	Het
Ap5m1	G	A	14: 49,086,248 (GRCm38)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,229,214 (GRCm38)	S48R	probably damaging	Het
Asb1	T	C	1: 91,544,228 (GRCm38)	L34P	probably damaging	Het
Atg14	C	T	14: 47,551,324 (GRCm38)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,441,284 (GRCm38)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,755,616 (GRCm38)	Q1217*	probably null	Het
Bsn	A	T	9: 108,114,886 (GRCm38)	H1222Q	probably benign	Het
Catsper4	A	T	4: 134,218,241 (GRCm38)	V169E	probably damaging	Het
Ccdc136	C	T	6: 29,413,032 (GRCm38)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,838,470 (GRCm38)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,679,102 (GRCm38)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,068,155 (GRCm38)	V272A	probably benign	Het
Cgn	A	T	3: 94,779,806 (GRCm38)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,533,523 (GRCm38)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,169,824 (GRCm38)		probably null	Het
Clmn	A	T	12: 104,780,808 (GRCm38)	S827T	probably benign	Het
Cntn4	T	C	6: 106,489,697 (GRCm38)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,188,365 (GRCm38)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,274,415 (GRCm38)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,948,362 (GRCm38)	S979T	unknown	Het
Crat	T	A	2: 30,402,642 (GRCm38)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,330,264 (GRCm38)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,617,616 (GRCm38)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,703,280 (GRCm38)		probably null	Het
Dicer1	A	T	12: 104,713,214 (GRCm38)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,766,141 (GRCm38)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 84,910,871 (GRCm38)	C301S	probably damaging	Het
Dock10	T	A	1: 80,606,563 (GRCm38)	D142V	probably damaging	Het
Dpp8	G	A	9: 65,063,868 (GRCm38)	C590Y	probably benign	Het
Dst	T	A	1: 34,275,236 (GRCm38)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,337,254 (GRCm38)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,629,986 (GRCm38)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,804,003 (GRCm38)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,532,223 (GRCm38)	D376E	probably benign	Het
Eps8	C	A	6: 137,537,635 (GRCm38)		probably null	Het
F11	T	C	8: 45,246,832 (GRCm38)	T406A	probably benign	Het
Fat3	T	G	9: 15,999,786 (GRCm38)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,959,105 (GRCm38)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,329,925 (GRCm38)	V109E	probably damaging	Het
Fn1	A	T	1: 71,626,164 (GRCm38)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,643,036 (GRCm38)	D9G	probably damaging	Het
Frem2	G	A	3: 53,652,922 (GRCm38)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,781,178 (GRCm38)	T185N	probably damaging	Het
Glo1	A	T	17: 30,604,040 (GRCm38)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,439,673 (GRCm38)	M137V	probably benign	Het
Gzmk	C	T	13: 113,173,955 (GRCm38)	G110S	probably benign	Het
Hdac9	G	T	12: 34,389,332 (GRCm38)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,733,269 (GRCm38)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,454,084 (GRCm38)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,190,612 (GRCm38)	L230R	probably damaging	Het
Klf9	C	T	19: 23,164,688 (GRCm38)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,583,387 (GRCm38)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,135,658 (GRCm38)	F67L	unknown	Het
Maml3	T	A	3: 51,690,656 (GRCm38)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,615,847 (GRCm38)		probably null	Het
Mettl3	A	G	14: 52,294,984 (GRCm38)	*104Q	probably null	Het
Msrb3	T	A	10: 120,852,080 (GRCm38)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,220,076 (GRCm38)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,924,039 (GRCm38)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,625,406 (GRCm38)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,016,293 (GRCm38)	D128G	probably damaging	Het
Nfam1	T	A	15: 83,015,001 (GRCm38)	K155*	probably null	Het
Noc4l	A	T	5: 110,650,559 (GRCm38)	M255K	possibly damaging	Het
Nolc1	CAG	CAGGAG	19: 46,081,359 (GRCm38)		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,361 (GRCm38)		probably benign	Het
Nprl2	T	C	9: 107,545,312 (GRCm38)	S334P	probably benign	Het
Nsrp1	A	G	11: 77,046,570 (GRCm38)	S267P	probably benign	Het
Ntn4	A	T	10: 93,644,839 (GRCm38)	M142L	probably damaging	Het
Nup188	T	A	2: 30,304,101 (GRCm38)	C139*	probably null	Het
Nup210l	A	T	3: 90,190,974 (GRCm38)	N1411I	possibly damaging	Het
Olfr1510	A	G	14: 52,410,296 (GRCm38)	L192P	probably damaging	Het
Olfr994	T	G	2: 85,430,086 (GRCm38)	T248P	probably damaging	Het
Pard3	A	T	8: 127,388,537 (GRCm38)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,671,556 (GRCm38)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,115,071 (GRCm38)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,818,984 (GRCm38)	D917V	probably damaging	Het
Plekhg4	T	A	8: 105,379,434 (GRCm38)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 101,077,309 (GRCm38)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,471,661 (GRCm38)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,445,288 (GRCm38)		probably null	Het
Rbp3	T	G	14: 33,956,057 (GRCm38)	I654S	probably benign	Het
Rimbp3	T	C	16: 17,209,675 (GRCm38)	L321P	probably benign	Het
Rims2	T	A	15: 39,511,326 (GRCm38)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,483,021 (GRCm38)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,424,103 (GRCm38)		probably null	Het
Scn7a	C	T	2: 66,675,968 (GRCm38)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,337,811 (GRCm38)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,013,105 (GRCm38)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,650,846 (GRCm38)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,926,440 (GRCm38)	D115G	probably benign	Het
Sowaha	G	A	11: 53,478,962 (GRCm38)	R316C	probably damaging	Het
Spata17	A	T	1: 187,097,911 (GRCm38)	F309I	possibly damaging	Het
Spata48	G	A	11: 11,490,293 (GRCm38)		probably null	Het
Ssrp1	G	T	2: 85,043,006 (GRCm38)		probably null	Het
St6gal1	C	G	16: 23,328,417 (GRCm38)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,848,174 (GRCm38)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,153,086 (GRCm38)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,797,044 (GRCm38)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,993,322 (GRCm38)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,872 (GRCm38)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,657,936 (GRCm38)	I222N	probably damaging	Het
Trrap	T	A	5: 144,844,211 (GRCm38)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,712,610 (GRCm38)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,235,536 (GRCm38)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,771,773 (GRCm38)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,187,630 (GRCm38)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932 (GRCm38)		probably null	Het
Vmn2r7	A	G	3: 64,691,604 (GRCm38)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,194 (GRCm38)	L621P	probably damaging	Het
Vps45	A	T	3: 96,047,053 (GRCm38)	M174K	probably benign	Het
Wdr72	A	T	9: 74,145,172 (GRCm38)	M162L	probably benign	Het
Wdr81	T	A	11: 75,453,635 (GRCm38)	M269L	probably benign	Het
Zfp53	A	G	17: 21,508,451 (GRCm38)	T249A	probably benign	Het
Zfp758	T	C	17: 22,361,645 (GRCm38)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,963,873 (GRCm38)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,518,693 (GRCm38)	Y45N	probably damaging	Het

Other mutations in Cbx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02456:Cbx4	APN	11	119,082,112 (GRCm38)	nonsense	probably null
R1034:Cbx4	UTSW	11	119,081,707 (GRCm38)	missense	probably damaging	1.00
R4995:Cbx4	UTSW	11	119,081,211 (GRCm38)	missense	probably benign	0.01
R5226:Cbx4	UTSW	11	119,081,928 (GRCm38)	missense	probably damaging	0.99
R5893:Cbx4	UTSW	11	119,082,190 (GRCm38)	missense	probably damaging	1.00
R6398:Cbx4	UTSW	11	119,081,082 (GRCm38)	missense	probably damaging	1.00
R7140:Cbx4	UTSW	11	119,081,928 (GRCm38)	missense	probably damaging	0.99
R7811:Cbx4	UTSW	11	119,081,572 (GRCm38)	missense	probably benign	0.00
X0064:Cbx4	UTSW	11	119,084,593 (GRCm38)	missense	probably damaging	1.00
Z1177:Cbx4	UTSW	11	119,085,766 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATTTTCACTGCCTGCATGC -3'
(R):5'- GAGCGGCAAGTATTATTATCAGC -3'

Sequencing Primer
(F):5'- GCATGCCGTTCTCCATGTAC -3'
(R):5'- GCACCACCCCTACCAGC -3'

Posted On

2014-09-18