Incidental Mutation 'R7186:Arid1a'
| ID |
559285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid1a
|
| Ensembl Gene |
ENSMUSG00000007880 |
| Gene Name |
AT-rich interaction domain 1A |
| Synonyms |
Smarcf1, 1110030E03Rik, Osa1, BAF250a |
| MMRRC Submission |
045271-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7186 (G1)
|
| Quality Score |
107.467 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133406319-133484080 bp(-) (GRCm39) |
| Type of Mutation |
|
| DNA Base Change (assembly) |
TGCCGCCGCCGCCGCCGCCGCCG to TGCCGCCGCCGCCGCCGCCG
at 133480544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
A2BH40 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,100 (GRCm39) |
I778F |
possibly damaging |
Het |
| Adam39 |
A |
T |
8: 41,279,349 (GRCm39) |
N580I |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,220,689 (GRCm39) |
S1415P |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,816,758 (GRCm39) |
Y743H |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,831 (GRCm39) |
V320A |
probably damaging |
Het |
| Art5 |
G |
T |
7: 101,746,536 (GRCm39) |
R268S |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,510,371 (GRCm39) |
V238A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
G |
A |
18: 34,770,175 (GRCm39) |
T408I |
probably damaging |
Het |
| Cdh24 |
G |
C |
14: 54,870,949 (GRCm39) |
P522A |
probably benign |
Het |
| Clk4 |
T |
C |
11: 51,159,607 (GRCm39) |
V61A |
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,611,115 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,363,787 (GRCm39) |
D292G |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,907,383 (GRCm39) |
E34G |
probably benign |
Het |
| Elovl7 |
A |
G |
13: 108,408,382 (GRCm39) |
E127G |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,187,252 (GRCm39) |
R235* |
probably null |
Het |
| Gbp3 |
G |
A |
3: 142,269,923 (GRCm39) |
V77M |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,372,569 (GRCm39) |
F450I |
probably benign |
Het |
| Gipc1 |
A |
G |
8: 84,390,762 (GRCm39) |
E289G |
possibly damaging |
Het |
| Gm4924 |
T |
C |
10: 82,214,778 (GRCm39) |
Y859H |
unknown |
Het |
| Gpatch1 |
A |
T |
7: 34,994,738 (GRCm39) |
D509E |
possibly damaging |
Het |
| Gpbp1 |
A |
G |
13: 111,577,233 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gpr107 |
A |
T |
2: 31,042,371 (GRCm39) |
M1L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,552,034 (GRCm39) |
F1003L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,814 (GRCm39) |
T685A |
probably benign |
Het |
| Hpse |
T |
A |
5: 100,843,395 (GRCm39) |
D259V |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,040,826 (GRCm39) |
|
probably null |
Het |
| Ighv14-1 |
T |
C |
12: 113,895,649 (GRCm39) |
D92G |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,385,083 (GRCm39) |
|
probably null |
Het |
| Lsp1 |
T |
C |
7: 142,044,089 (GRCm39) |
V278A |
probably damaging |
Het |
| Lurap1l |
C |
A |
4: 80,829,747 (GRCm39) |
S52R |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,577 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,009,575 (GRCm39) |
E399G |
unknown |
Het |
| Ncapd2 |
A |
G |
6: 125,163,119 (GRCm39) |
S130P |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,178,973 (GRCm39) |
V321A |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,352,954 (GRCm39) |
H17R |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,920 (GRCm39) |
W419R |
probably damaging |
Het |
| Or4d2b |
G |
A |
11: 87,780,591 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,507 (GRCm39) |
D70E |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,473 (GRCm39) |
R270G |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,353,678 (GRCm39) |
M1K |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,822,172 (GRCm39) |
A313V |
probably damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,010,080 (GRCm39) |
N229K |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,401 (GRCm39) |
C104S |
probably damaging |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
G |
T |
3: 94,865,659 (GRCm39) |
K319N |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,242 (GRCm39) |
T207S |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,125,608 (GRCm39) |
T1305A |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,744 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
A |
C |
14: 75,269,453 (GRCm39) |
D37A |
possibly damaging |
Het |
| Saxo5 |
T |
C |
8: 3,529,049 (GRCm39) |
F208S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,567 (GRCm39) |
Y802C |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,715 (GRCm39) |
Y433* |
probably null |
Het |
| Sgk3 |
T |
A |
1: 9,956,227 (GRCm39) |
V331D |
probably benign |
Het |
| Sirt7 |
C |
T |
11: 120,511,311 (GRCm39) |
R280H |
probably benign |
Het |
| Snx13 |
G |
C |
12: 35,142,912 (GRCm39) |
R252S |
probably damaging |
Het |
| Stk32b |
G |
T |
5: 37,624,125 (GRCm39) |
D207E |
probably damaging |
Het |
| Sult2a7 |
C |
T |
7: 14,203,978 (GRCm39) |
V262I |
not run |
Het |
| Tcstv7b |
C |
T |
13: 120,702,587 (GRCm39) |
L128F |
probably damaging |
Het |
| Tent5b |
T |
A |
4: 133,213,518 (GRCm39) |
F130I |
probably damaging |
Het |
| Tmem33 |
G |
C |
5: 67,421,130 (GRCm39) |
V35L |
possibly damaging |
Het |
| Uba1y |
A |
G |
Y: 825,537 (GRCm39) |
I300V |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,942,060 (GRCm39) |
V344E |
probably benign |
Het |
| Usp50 |
C |
T |
2: 126,625,218 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
A |
C |
18: 3,122,661 (GRCm39) |
F251C |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,150 (GRCm39) |
Y829* |
probably null |
Het |
| Wars1 |
A |
G |
12: 108,846,982 (GRCm39) |
F141L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,621 (GRCm39) |
V145A |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,640,204 (GRCm39) |
V56D |
probably benign |
Het |
|
| Other mutations in Arid1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Arid1a
|
APN |
4 |
133,412,793 (GRCm39) |
missense |
unknown |
|
|
IGL01139:Arid1a
|
APN |
4 |
133,421,308 (GRCm39) |
missense |
unknown |
|
|
IGL01392:Arid1a
|
APN |
4 |
133,408,348 (GRCm39) |
missense |
unknown |
|
|
IGL01543:Arid1a
|
APN |
4 |
133,409,033 (GRCm39) |
missense |
unknown |
|
|
IGL01642:Arid1a
|
APN |
4 |
133,409,155 (GRCm39) |
missense |
unknown |
|
|
IGL01843:Arid1a
|
APN |
4 |
133,408,765 (GRCm39) |
missense |
unknown |
|
|
IGL02108:Arid1a
|
APN |
4 |
133,407,827 (GRCm39) |
missense |
unknown |
|
|
IGL02117:Arid1a
|
APN |
4 |
133,420,126 (GRCm39) |
missense |
unknown |
|
|
IGL02150:Arid1a
|
APN |
4 |
133,414,568 (GRCm39) |
missense |
unknown |
|
|
IGL02478:Arid1a
|
APN |
4 |
133,408,585 (GRCm39) |
missense |
unknown |
|
|
IGL02544:Arid1a
|
APN |
4 |
133,409,059 (GRCm39) |
missense |
unknown |
|
|
IGL03070:Arid1a
|
APN |
4 |
133,422,064 (GRCm39) |
missense |
unknown |
|
|
PIT4520001:Arid1a
|
UTSW |
4 |
133,409,227 (GRCm39) |
missense |
unknown |
|
|
R0023:Arid1a
|
UTSW |
4 |
133,418,487 (GRCm39) |
missense |
unknown |
|
|
R0023:Arid1a
|
UTSW |
4 |
133,418,487 (GRCm39) |
missense |
unknown |
|
|
R0419:Arid1a
|
UTSW |
4 |
133,408,435 (GRCm39) |
missense |
unknown |
|
|
R0452:Arid1a
|
UTSW |
4 |
133,416,416 (GRCm39) |
missense |
unknown |
|
|
R0631:Arid1a
|
UTSW |
4 |
133,416,481 (GRCm39) |
missense |
unknown |
|
|
R0648:Arid1a
|
UTSW |
4 |
133,412,515 (GRCm39) |
missense |
unknown |
|
|
R1004:Arid1a
|
UTSW |
4 |
133,414,586 (GRCm39) |
missense |
unknown |
|
|
R1225:Arid1a
|
UTSW |
4 |
133,414,676 (GRCm39) |
missense |
unknown |
|
|
R1229:Arid1a
|
UTSW |
4 |
133,418,548 (GRCm39) |
missense |
unknown |
|
|
R1435:Arid1a
|
UTSW |
4 |
133,408,009 (GRCm39) |
missense |
unknown |
|
|
R1480:Arid1a
|
UTSW |
4 |
133,407,700 (GRCm39) |
missense |
unknown |
|
|
R1491:Arid1a
|
UTSW |
4 |
133,448,237 (GRCm39) |
missense |
unknown |
|
|
R1674:Arid1a
|
UTSW |
4 |
133,416,571 (GRCm39) |
missense |
unknown |
|
|
R1909:Arid1a
|
UTSW |
4 |
133,421,072 (GRCm39) |
missense |
unknown |
|
|
R1960:Arid1a
|
UTSW |
4 |
133,480,401 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2018:Arid1a
|
UTSW |
4 |
133,409,145 (GRCm39) |
missense |
unknown |
|
|
R2147:Arid1a
|
UTSW |
4 |
133,408,677 (GRCm39) |
missense |
unknown |
|
|
R2303:Arid1a
|
UTSW |
4 |
133,414,562 (GRCm39) |
missense |
unknown |
|
|
R2320:Arid1a
|
UTSW |
4 |
133,407,840 (GRCm39) |
missense |
unknown |
|
|
R3775:Arid1a
|
UTSW |
4 |
133,414,075 (GRCm39) |
missense |
unknown |
|
|
R3907:Arid1a
|
UTSW |
4 |
133,420,223 (GRCm39) |
splice site |
probably benign |
|
|
R4509:Arid1a
|
UTSW |
4 |
133,423,010 (GRCm39) |
intron |
probably benign |
|
|
R4510:Arid1a
|
UTSW |
4 |
133,423,010 (GRCm39) |
intron |
probably benign |
|
|
R4551:Arid1a
|
UTSW |
4 |
133,423,010 (GRCm39) |
intron |
probably benign |
|
|
R4552:Arid1a
|
UTSW |
4 |
133,423,010 (GRCm39) |
intron |
probably benign |
|
|
R4606:Arid1a
|
UTSW |
4 |
133,414,634 (GRCm39) |
missense |
unknown |
|
|
R4745:Arid1a
|
UTSW |
4 |
133,480,417 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4851:Arid1a
|
UTSW |
4 |
133,408,672 (GRCm39) |
missense |
unknown |
|
|
R4867:Arid1a
|
UTSW |
4 |
133,448,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5203:Arid1a
|
UTSW |
4 |
133,409,314 (GRCm39) |
missense |
unknown |
|
|
R5227:Arid1a
|
UTSW |
4 |
133,407,716 (GRCm39) |
missense |
unknown |
|
|
R5294:Arid1a
|
UTSW |
4 |
133,418,366 (GRCm39) |
splice site |
probably benign |
|
|
R5299:Arid1a
|
UTSW |
4 |
133,414,537 (GRCm39) |
missense |
unknown |
|
|
R5412:Arid1a
|
UTSW |
4 |
133,446,913 (GRCm39) |
unclassified |
probably benign |
|
|
R5540:Arid1a
|
UTSW |
4 |
133,407,765 (GRCm39) |
missense |
unknown |
|
|
R5704:Arid1a
|
UTSW |
4 |
133,409,050 (GRCm39) |
missense |
unknown |
|
|
R5870:Arid1a
|
UTSW |
4 |
133,408,387 (GRCm39) |
missense |
unknown |
|
|
R6092:Arid1a
|
UTSW |
4 |
133,421,163 (GRCm39) |
missense |
unknown |
|
|
R6151:Arid1a
|
UTSW |
4 |
133,412,287 (GRCm39) |
missense |
unknown |
|
|
R6240:Arid1a
|
UTSW |
4 |
133,407,997 (GRCm39) |
missense |
unknown |
|
|
R6379:Arid1a
|
UTSW |
4 |
133,408,238 (GRCm39) |
missense |
unknown |
|
|
R6427:Arid1a
|
UTSW |
4 |
133,408,835 (GRCm39) |
missense |
unknown |
|
|
R6739:Arid1a
|
UTSW |
4 |
133,414,937 (GRCm39) |
missense |
unknown |
|
|
R7159:Arid1a
|
UTSW |
4 |
133,480,879 (GRCm39) |
missense |
unknown |
|
|
R7354:Arid1a
|
UTSW |
4 |
133,421,258 (GRCm39) |
missense |
unknown |
|
|
R7408:Arid1a
|
UTSW |
4 |
133,408,391 (GRCm39) |
missense |
unknown |
|
|
R7452:Arid1a
|
UTSW |
4 |
133,480,438 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7471:Arid1a
|
UTSW |
4 |
133,408,355 (GRCm39) |
missense |
unknown |
|
|
R7478:Arid1a
|
UTSW |
4 |
133,412,482 (GRCm39) |
missense |
unknown |
|
|
R7581:Arid1a
|
UTSW |
4 |
133,407,662 (GRCm39) |
missense |
unknown |
|
|
R7614:Arid1a
|
UTSW |
4 |
133,418,466 (GRCm39) |
missense |
unknown |
|
|
R7712:Arid1a
|
UTSW |
4 |
133,479,922 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7734:Arid1a
|
UTSW |
4 |
133,408,679 (GRCm39) |
missense |
unknown |
|
|
R7878:Arid1a
|
UTSW |
4 |
133,414,582 (GRCm39) |
missense |
unknown |
|
|
R7973:Arid1a
|
UTSW |
4 |
133,480,381 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8012:Arid1a
|
UTSW |
4 |
133,420,174 (GRCm39) |
missense |
unknown |
|
|
R8355:Arid1a
|
UTSW |
4 |
133,448,174 (GRCm39) |
missense |
unknown |
|
|
R8396:Arid1a
|
UTSW |
4 |
133,479,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8708:Arid1a
|
UTSW |
4 |
133,409,145 (GRCm39) |
missense |
unknown |
|
|
R8923:Arid1a
|
UTSW |
4 |
133,412,304 (GRCm39) |
missense |
unknown |
|
|
R8997:Arid1a
|
UTSW |
4 |
133,421,343 (GRCm39) |
missense |
unknown |
|
|
R9003:Arid1a
|
UTSW |
4 |
133,411,799 (GRCm39) |
missense |
unknown |
|
|
R9145:Arid1a
|
UTSW |
4 |
133,421,214 (GRCm39) |
missense |
unknown |
|
|
R9224:Arid1a
|
UTSW |
4 |
133,409,167 (GRCm39) |
missense |
unknown |
|
|
R9310:Arid1a
|
UTSW |
4 |
133,413,625 (GRCm39) |
missense |
unknown |
|
|
R9470:Arid1a
|
UTSW |
4 |
133,413,057 (GRCm39) |
missense |
unknown |
|
|
RF012:Arid1a
|
UTSW |
4 |
133,480,131 (GRCm39) |
small deletion |
probably benign |
|
|
RF015:Arid1a
|
UTSW |
4 |
133,480,142 (GRCm39) |
small deletion |
probably benign |
|
|
X0064:Arid1a
|
UTSW |
4 |
133,416,571 (GRCm39) |
missense |
unknown |
|
|
Z1176:Arid1a
|
UTSW |
4 |
133,447,861 (GRCm39) |
missense |
probably null |
|
|
Z1177:Arid1a
|
UTSW |
4 |
133,408,227 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2019-06-26 |
Incidental Mutation