Incidental Mutation 'IGL02929:Atrx'
| ID |
364039 |
| 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)
|
| Stock # |
IGL02929
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
104841221-104972978 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 104923512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101305]
[ENSMUST00000113573]
[ENSMUST00000128968]
[ENSMUST00000134381]
[ENSMUST00000134507]
[ENSMUST00000150914]
[ENSMUST00000199233]
[ENSMUST00000197302]
[ENSMUST00000198448]
[ENSMUST00000154866]
[ENSMUST00000198441]
[ENSMUST00000137453]
[ENSMUST00000198209]
|
| AlphaFold |
Q61687 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101305
|
| SMART Domains |
Protein: ENSMUSP00000098863
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000150914
|
| SMART Domains |
Protein: ENSMUSP00000122034
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000199233
|
| SMART Domains |
Protein: ENSMUSP00000143015
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000197302
|
| SMART Domains |
Protein: ENSMUSP00000143163
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2JM1|A
|
72 |
134 |
6e-42 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198448
|
| SMART Domains |
Protein: ENSMUSP00000143090
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000154866
|
| SMART Domains |
Protein: ENSMUSP00000121291
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000198441
|
| SMART Domains |
Protein: ENSMUSP00000143565
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000137453
|
| SMART Domains |
Protein: ENSMUSP00000120246
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198209
|
| SMART Domains |
Protein: ENSMUSP00000142726
Gene: ENSMUSG00000031229
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
| Adam32 |
C |
A |
8: 25,362,659 (GRCm39) |
V13L |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
| Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
| Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
| Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
| Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
| Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
| Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
| Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
| Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
| Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
| Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
| Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
probably benign |
Het |
|
| Other mutations in Atrx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02252:Atrx
|
APN |
X |
104,889,429 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02411:Atrx
|
APN |
X |
104,874,587 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
2015-12-18 |
Incidental Mutation