Incidental Mutation 'IGL02456:Cbx4'
ID294152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbx4
Ensembl Gene ENSMUSG00000039989
Gene Namechromobox 4
SynonymsPC2, MPc2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02456
Quality Score
Status
Chromosome11
Chromosomal Location119077573-119086221 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 119082112 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000026665
AA Change: K146*
SMART Domains Protein: ENSMUSP00000026665
Gene: ENSMUSG00000039989
AA Change: K146*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,261,124 L458Q probably damaging Het
4921511C20Rik T A X: 127,394,961 Y174* probably null Het
Apc C A 18: 34,313,882 S1243* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D46G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Grn T A 11: 102,436,104 D509E probably benign Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Nup85 T C 11: 115,581,865 probably benign Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr630 T A 7: 103,755,493 I31F possibly damaging Het
Olfr683 T C 7: 105,143,759 N178S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L76H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging Het
Other mutations in Cbx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1034:Cbx4 UTSW 11 119081707 missense probably damaging 1.00
R2113:Cbx4 UTSW 11 119081892 missense probably damaging 1.00
R4995:Cbx4 UTSW 11 119081211 missense probably benign 0.01
R5226:Cbx4 UTSW 11 119081928 missense probably damaging 0.99
R5893:Cbx4 UTSW 11 119082190 missense probably damaging 1.00
R6398:Cbx4 UTSW 11 119081082 missense probably damaging 1.00
X0064:Cbx4 UTSW 11 119084593 missense probably damaging 1.00
Posted On2015-04-16