Incidental Mutation 'IGL02929:Atrx'
ID364039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atrx
Ensembl Gene ENSMUSG00000031229
Gene NameATRX, chromatin remodeler
SynonymsDXHXS6677E, Rad54, 4833408C14Rik, Hp1bp2, Xnp, HP1-BP38, XH2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.944) question?
Stock #IGL02929
Quality Score
Status
ChromosomeX
Chromosomal Location105797615-105929403 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) T to C at 105879906 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101305] [ENSMUST00000113573] [ENSMUST00000128968] [ENSMUST00000134381] [ENSMUST00000134507] [ENSMUST00000137453] [ENSMUST00000150914] [ENSMUST00000154866] [ENSMUST00000197302] [ENSMUST00000198209] [ENSMUST00000198441] [ENSMUST00000198448] [ENSMUST00000199233]
Predicted Effect probably benign
Transcript: ENSMUST00000101305
SMART Domains Protein: ENSMUSP00000098863
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
low complexity region 81 99 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113573
SMART Domains Protein: ENSMUSP00000109203
Gene: ENSMUSG00000031229

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: ENSMUST00000123174
Predicted Effect probably null
Transcript: ENSMUST00000128968
SMART Domains Protein: ENSMUSP00000121416
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 66 84 N/A INTRINSIC
RING 180 228 2.2e-3 SMART
low complexity region 273 283 N/A INTRINSIC
low complexity region 735 750 N/A INTRINSIC
low complexity region 783 798 N/A INTRINSIC
low complexity region 890 907 N/A INTRINSIC
low complexity region 982 993 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133543
Predicted Effect probably null
Transcript: ENSMUST00000134381
SMART Domains Protein: ENSMUSP00000122875
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
RING 126 174 4.61e-1 SMART
low complexity region 219 229 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000134507
SMART Domains Protein: ENSMUSP00000123085
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
RING 142 190 4.61e-1 SMART
low complexity region 235 245 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137453
SMART Domains Protein: ENSMUSP00000120246
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000150914
SMART Domains Protein: ENSMUSP00000122034
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 27 45 N/A INTRINSIC
RING 180 228 4.61e-1 SMART
low complexity region 273 283 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154866
SMART Domains Protein: ENSMUSP00000121291
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
PDB:2LD1|A 103 208 6e-77 PDB
SCOP:d1fp0a1 157 208 5e-7 SMART
Blast:RING 163 208 5e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000197302
SMART Domains Protein: ENSMUSP00000143163
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
PDB:2JM1|A 72 134 6e-42 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000198209
SMART Domains Protein: ENSMUSP00000142726
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
low complexity region 142 160 N/A INTRINSIC
internal_repeat_1 171 196 2.95e-5 PROSPERO
internal_repeat_1 218 241 2.95e-5 PROSPERO
low complexity region 251 264 N/A INTRINSIC
low complexity region 266 286 N/A INTRINSIC
low complexity region 300 315 N/A INTRINSIC
low complexity region 359 366 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 422 431 N/A INTRINSIC
low complexity region 454 467 N/A INTRINSIC
low complexity region 486 499 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000198441
SMART Domains Protein: ENSMUSP00000143565
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
low complexity region 66 84 N/A INTRINSIC
PDB:2JM1|A 123 174 3e-32 PDB
Predicted Effect probably null
Transcript: ENSMUST00000198448
SMART Domains Protein: ENSMUSP00000143090
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
RING 164 212 2.2e-3 SMART
low complexity region 257 267 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199233
SMART Domains Protein: ENSMUSP00000143015
Gene: ENSMUSG00000031229

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
PDB:2JM1|A 68 158 2e-64 PDB
SCOP:d1fp0a1 120 154 9e-6 SMART
Blast:RING 126 158 9e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000200471
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,082 M75K possibly damaging Het
A330070K13Rik A G 5: 130,384,411 probably null Het
Abcb5 T C 12: 118,944,939 Y90C probably damaging Het
Accs T C 2: 93,844,221 D112G probably damaging Het
Adam32 C A 8: 24,872,643 V13L possibly damaging Het
Adgrb3 A G 1: 25,553,824 V294A probably benign Het
Aes T A 10: 81,564,838 probably null Het
Agt G T 8: 124,557,090 A430E probably benign Het
Agxt2 T C 15: 10,388,293 probably benign Het
Atp2a1 A T 7: 126,456,944 I235N probably damaging Het
Atp8b1 T C 18: 64,561,662 I516M possibly damaging Het
Brcc3 T C X: 75,435,499 V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 probably benign Het
Ceacam3 T A 7: 17,158,190 V286D probably damaging Het
Cpb1 T C 3: 20,275,466 D32G probably benign Het
Cpsf1 C A 15: 76,602,127 probably null Het
Dock2 A T 11: 34,268,048 V1174E probably damaging Het
Dqx1 A G 6: 83,060,484 probably benign Het
Ercc1 T C 7: 19,355,363 probably null Het
Fn1 A G 1: 71,595,662 probably null Het
Ice1 A G 13: 70,596,203 L2087P probably damaging Het
Ift122 A G 6: 115,902,877 D612G probably damaging Het
Igkv6-25 A G 6: 70,215,945 Y112C probably damaging Het
Kit C A 5: 75,640,769 P572Q probably damaging Het
Kras A G 6: 145,232,089 probably benign Het
Ltv1 T C 10: 13,192,226 K6R possibly damaging Het
Man1a C T 10: 53,925,435 V443I probably benign Het
Mat2b A C 11: 40,684,713 D154E probably benign Het
Mtrf1 A G 14: 79,402,833 K143E probably benign Het
Myh13 A C 11: 67,367,165 I95L probably damaging Het
Myo7b A T 18: 31,994,925 D571E probably benign Het
Nek10 T A 14: 14,821,119 D28E possibly damaging Het
Npm2 T A 14: 70,652,238 probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plcb2 G A 2: 118,713,234 Het
Ppp1r3a A G 6: 14,719,811 M368T probably benign Het
Rnf123 G T 9: 108,069,076 T300K probably benign Het
Sbspon A G 1: 15,883,845 probably benign Het
Slc52a2 G A 15: 76,540,576 C338Y probably benign Het
Tdrd6 T A 17: 43,629,713 Q148L possibly damaging Het
Trpc3 T A 3: 36,638,474 K790* probably null Het
Ushbp1 C T 8: 71,394,476 A171T probably damaging Het
Usp32 T C 11: 84,988,372 T1504A probably benign Het
Wdr78 C T 4: 103,059,991 W552* probably null Het
Other mutations in Atrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Atrx APN X 105823799 missense probably damaging 0.99
IGL01293:Atrx APN X 105876195 missense probably benign 0.02
IGL01383:Atrx APN X 105802075 missense probably damaging 0.98
IGL01701:Atrx APN X 105830920 missense probably damaging 1.00
IGL02252:Atrx APN X 105845823 missense possibly damaging 0.89
IGL02411:Atrx APN X 105830981 missense possibly damaging 0.82
IGL03004:Atrx APN X 105832509 nonsense probably null
R1799:Atrx UTSW X 105847629 missense probably damaging 1.00
R2920:Atrx UTSW X 105830868 missense probably benign 0.22
R3928:Atrx UTSW X 105879917 missense possibly damaging 0.91
R3929:Atrx UTSW X 105879917 missense possibly damaging 0.91
X0028:Atrx UTSW X 105877412 missense probably damaging 0.99
X0060:Atrx UTSW X 105847687 missense probably damaging 1.00
Posted On2015-12-18