Incidental Mutation 'IGL01293:Atrx'
ID72967
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 #IGL01293
Quality Score
Status
ChromosomeX
Chromosomal Location105797615-105929403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105876195 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 641 (S641P)
Ref Sequence ENSEMBL: ENSMUSP00000121416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113573] [ENSMUST00000128968] [ENSMUST00000134381] [ENSMUST00000134507] [ENSMUST00000150914] [ENSMUST00000154866] [ENSMUST00000197302] [ENSMUST00000198209] [ENSMUST00000198441] [ENSMUST00000198448] [ENSMUST00000199233]
Predicted Effect probably benign
Transcript: ENSMUST00000113573
AA Change: S680P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109203
Gene: ENSMUSG00000031229
AA Change: S680P

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: ENSMUST00000122626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123174
Predicted Effect probably benign
Transcript: ENSMUST00000128968
AA Change: S641P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121416
Gene: ENSMUSG00000031229
AA Change: S641P

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 benign
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 benign
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: 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 benign
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 benign
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 benign
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 benign
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
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Atrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Atrx APN X 105823799 missense probably damaging 0.99
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
IGL02929:Atrx APN X 105879906 splice site probably null
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 On2013-10-07