Incidental Mutation 'IGL02252:Atrx'
ID 286422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atrx
Ensembl Gene ENSMUSG00000031229
Gene Name ATRX, chromatin remodeler
Synonyms alpha thalassemia/mental retardation syndrome X-linked, Hp1bp2, Xnp, DXHXS6677E, 4833408C14Rik, XH2, Rad54, HP1-BP38
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL02252
Quality Score
Status
Chromosome X
Chromosomal Location 104841221-104972978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104889429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1628 (E1628G)
Ref Sequence ENSEMBL: ENSMUSP00000109203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113573]
AlphaFold Q61687
Predicted Effect possibly damaging
Transcript: ENSMUST00000113573
AA Change: E1628G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109203
Gene: ENSMUSG00000031229
AA Change: E1628G

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 66 84 N/A INTRINSIC
RING 219 267 4.61e-1 SMART
low complexity region 312 322 N/A INTRINSIC
low complexity region 774 789 N/A INTRINSIC
low complexity region 822 837 N/A INTRINSIC
low complexity region 929 946 N/A INTRINSIC
low complexity region 1021 1039 N/A INTRINSIC
low complexity region 1130 1143 N/A INTRINSIC
low complexity region 1145 1165 N/A INTRINSIC
low complexity region 1179 1194 N/A INTRINSIC
low complexity region 1238 1245 N/A INTRINSIC
low complexity region 1264 1279 N/A INTRINSIC
low complexity region 1309 1318 N/A INTRINSIC
low complexity region 1341 1354 N/A INTRINSIC
low complexity region 1373 1386 N/A INTRINSIC
low complexity region 1407 1416 N/A INTRINSIC
low complexity region 1430 1454 N/A INTRINSIC
coiled coil region 1472 1511 N/A INTRINSIC
DEXDc 1541 1761 2.44e-25 SMART
low complexity region 1898 1932 N/A INTRINSIC
low complexity region 1947 1959 N/A INTRINSIC
low complexity region 1969 1982 N/A INTRINSIC
HELICc 2031 2138 6.1e-17 SMART
low complexity region 2245 2266 N/A INTRINSIC
low complexity region 2397 2413 N/A INTRINSIC
low complexity region 2452 2461 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196998
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-linked. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,444,678 (GRCm39) probably benign Het
Actl7b A T 4: 56,741,205 (GRCm39) I51N probably damaging Het
Adamts12 A G 15: 11,311,101 (GRCm39) I1119M probably benign Het
Apol10a T A 15: 77,372,670 (GRCm39) V102D probably benign Het
Btnl2 C T 17: 34,584,364 (GRCm39) S429F possibly damaging Het
C4bp C A 1: 130,564,524 (GRCm39) D387Y probably damaging Het
Ceacam23 G T 7: 17,644,457 (GRCm39) V525F possibly damaging Het
Crybg3 G T 16: 59,372,887 (GRCm39) probably benign Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Efcab3 C A 11: 104,644,753 (GRCm39) R1114S possibly damaging Het
Elp1 G T 4: 56,759,813 (GRCm39) Q1151K probably benign Het
Fign A G 2: 63,810,983 (GRCm39) S96P probably benign Het
Ggt5 A G 10: 75,438,566 (GRCm39) I96V possibly damaging Het
Gm3238 A G 10: 77,606,691 (GRCm39) probably benign Het
Gm4792 G T 10: 94,131,102 (GRCm39) P69Q unknown Het
Ighv1-58 A T 12: 115,275,897 (GRCm39) N80K possibly damaging Het
Irgm1 C T 11: 48,756,981 (GRCm39) G277S possibly damaging Het
Jsrp1 A G 10: 80,644,707 (GRCm39) V233A probably benign Het
Kcp T A 6: 29,504,548 (GRCm39) R85W probably damaging Het
Kif14 T C 1: 136,406,130 (GRCm39) Y565H probably damaging Het
Klk1b4 G A 7: 43,860,094 (GRCm39) W69* probably null Het
Knl1 A T 2: 118,903,021 (GRCm39) Q1574L probably damaging Het
Lao1 A G 4: 118,824,613 (GRCm39) N232D probably benign Het
Lipn A G 19: 34,049,157 (GRCm39) I108V probably benign Het
Lrrc49 T A 9: 60,595,142 (GRCm39) M1L probably benign Het
Matn2 G T 15: 34,316,736 (GRCm39) R26L probably damaging Het
Mmp16 G A 4: 18,110,523 (GRCm39) D440N probably damaging Het
Mn1 G A 5: 111,569,107 (GRCm39) A1026T probably damaging Het
Mrgpra1 A T 7: 46,984,912 (GRCm39) F256I probably benign Het
Msantd3 A C 4: 48,560,869 (GRCm39) E148D probably benign Het
Mylk3 G T 8: 86,082,105 (GRCm39) L361I probably benign Het
Nlrp12 A G 7: 3,293,980 (GRCm39) S117P probably benign Het
Nsmaf T C 4: 6,398,378 (GRCm39) E870G probably benign Het
Oplah T C 15: 76,188,964 (GRCm39) T320A probably damaging Het
Or5p50 C A 7: 107,422,353 (GRCm39) A108S probably benign Het
Or7g34 T A 9: 19,478,267 (GRCm39) I138F probably damaging Het
Pard3 T G 8: 128,125,237 (GRCm39) S729A probably benign Het
Pdzd9 T C 7: 120,262,238 (GRCm39) I75V probably benign Het
Pgf A G 12: 85,216,199 (GRCm39) probably benign Het
Phf1 T A 17: 27,154,109 (GRCm39) V140D possibly damaging Het
Pkd1l3 T C 8: 110,357,708 (GRCm39) S775P possibly damaging Het
Rhobtb1 A T 10: 69,085,515 (GRCm39) T85S probably damaging Het
Sez6 T A 11: 77,865,339 (GRCm39) Y659N probably damaging Het
Sfmbt1 T C 14: 30,539,690 (GRCm39) L826P probably damaging Het
Sftpd T A 14: 40,894,471 (GRCm39) D316V probably damaging Het
Shc2 T C 10: 79,462,204 (GRCm39) D313G probably benign Het
Snrk T C 9: 121,986,326 (GRCm39) Y232H probably damaging Het
Sntg1 G T 1: 8,484,452 (GRCm39) P456Q probably benign Het
Sorbs1 A T 19: 40,302,841 (GRCm39) N783K probably damaging Het
Stag3 A T 5: 138,300,810 (GRCm39) I923F probably damaging Het
Tep1 T A 14: 51,067,712 (GRCm39) H2168L possibly damaging Het
Tmem132c A T 5: 127,539,991 (GRCm39) N339I possibly damaging Het
Trim34b A G 7: 103,979,139 (GRCm39) T129A probably damaging Het
Ttc21a T C 9: 119,785,994 (GRCm39) L664P probably damaging Het
Ubl5 C T 9: 20,556,923 (GRCm39) R56* probably null Het
Ubox5 G A 2: 130,441,707 (GRCm39) R327W probably damaging Het
Ubr5 G T 15: 38,025,138 (GRCm39) A546E probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null Het
Unc45a T C 7: 79,982,717 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,101 (GRCm39) T73I probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Vmn2r74 A G 7: 85,606,531 (GRCm39) Y272H probably benign Het
Wdr43 T A 17: 71,933,845 (GRCm39) D147E probably damaging Het
Zfp352 A T 4: 90,112,367 (GRCm39) D169V probably benign Het
Zim1 A T 7: 6,691,627 (GRCm39) N15K unknown Het
Other mutations in Atrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Atrx APN X 104,867,405 (GRCm39) missense probably damaging 0.99
IGL01293:Atrx APN X 104,919,801 (GRCm39) missense probably benign 0.02
IGL01383:Atrx APN X 104,845,681 (GRCm39) missense probably damaging 0.98
IGL01701:Atrx APN X 104,874,526 (GRCm39) missense probably damaging 1.00
IGL02411:Atrx APN X 104,874,587 (GRCm39) missense possibly damaging 0.82
IGL02929:Atrx APN X 104,923,512 (GRCm39) splice site probably null
IGL03004:Atrx APN X 104,876,115 (GRCm39) nonsense probably null
R1799:Atrx UTSW X 104,891,235 (GRCm39) missense probably damaging 1.00
R2920:Atrx UTSW X 104,874,474 (GRCm39) missense probably benign 0.22
R3928:Atrx UTSW X 104,923,523 (GRCm39) missense possibly damaging 0.91
R3929:Atrx UTSW X 104,923,523 (GRCm39) missense possibly damaging 0.91
X0028:Atrx UTSW X 104,921,018 (GRCm39) missense probably damaging 0.99
X0060:Atrx UTSW X 104,891,293 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16