Incidental Mutation 'R2113:Cbx4'
ID 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 11
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2014-09-18