Incidental Mutation 'R0347:Arid2'
| ID |
38480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
038554-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0347 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96268833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 982
(N982S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096250
AA Change: N982S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: N982S
| Domain | Start | End | E-Value | Type |
|---|
|
ARID
|
10 |
101 |
9.67e-36 |
SMART |
|
BRIGHT
|
14 |
106 |
3.67e-34 |
SMART |
|
Pfam:RFX_DNA_binding
|
521 |
603 |
1.7e-26 |
PFAM |
|
internal_repeat_1
|
767 |
843 |
3.29e-6 |
PROSPERO |
|
low complexity region
|
902 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1131 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1132 |
1215 |
3.29e-6 |
PROSPERO |
|
low complexity region
|
1453 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1590 |
1614 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1626 |
1651 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
1659 |
1684 |
4.74e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176739
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
100% (78/78) |
| 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 AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E12.5 and E14.5, congenital heart defects, impaired coronary artery development, subcutaneous edema and hemorrhage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,913,748 (GRCm39) |
E908G |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,928,986 (GRCm39) |
|
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,623,655 (GRCm39) |
F102Y |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,290,915 (GRCm39) |
Y625C |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,390,513 (GRCm39) |
E488G |
possibly damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,753 (GRCm39) |
C323R |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,423,979 (GRCm39) |
*1084R |
probably null |
Het |
| Apol10a |
A |
T |
15: 77,372,891 (GRCm39) |
I176F |
probably damaging |
Het |
| Arhgap26 |
C |
T |
18: 38,750,797 (GRCm39) |
T70I |
unknown |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,029 (GRCm39) |
D291G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cdc20b |
G |
T |
13: 113,196,361 (GRCm39) |
G162V |
probably damaging |
Het |
| Cep44 |
T |
G |
8: 56,998,510 (GRCm39) |
E56A |
probably damaging |
Het |
| Cfap410 |
A |
T |
10: 77,820,256 (GRCm39) |
I209F |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,965,603 (GRCm39) |
L469P |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,187,435 (GRCm39) |
C1177S |
probably benign |
Het |
| Ctnnbip1 |
C |
T |
4: 149,630,211 (GRCm39) |
P7S |
probably damaging |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,543 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
C |
T |
5: 145,802,735 (GRCm39) |
V253M |
possibly damaging |
Het |
| D630045J12Rik |
C |
A |
6: 38,158,327 (GRCm39) |
V1117L |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,280,104 (GRCm39) |
S2678T |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,365,596 (GRCm39) |
I428T |
probably damaging |
Het |
| Fam83f |
A |
G |
15: 80,556,458 (GRCm39) |
D114G |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,294,802 (GRCm39) |
N423I |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,383,824 (GRCm39) |
F31L |
probably damaging |
Het |
| Glrx3 |
G |
A |
7: 137,039,430 (GRCm39) |
E10K |
unknown |
Het |
| Gm12185 |
T |
C |
11: 48,806,009 (GRCm39) |
E394G |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,997,056 (GRCm39) |
V381M |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,981,221 (GRCm39) |
S230G |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,127,733 (GRCm39) |
D25V |
probably benign |
Het |
| Junb |
G |
A |
8: 85,705,107 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
C |
A |
12: 5,134,354 (GRCm39) |
V747F |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,304 (GRCm39) |
H569R |
unknown |
Het |
| Ldhb |
T |
C |
6: 142,439,859 (GRCm39) |
N227S |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,339,092 (GRCm39) |
D543G |
possibly damaging |
Het |
| Mrps23 |
A |
T |
11: 88,101,519 (GRCm39) |
Q136L |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,076,130 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,084,287 (GRCm39) |
D133E |
probably benign |
Het |
| Neurod4 |
G |
A |
10: 130,106,980 (GRCm39) |
T98I |
probably damaging |
Het |
| Nfatc2 |
G |
T |
2: 168,378,210 (GRCm39) |
T465K |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,216 (GRCm39) |
S859P |
probably benign |
Het |
| Nipsnap3a |
T |
C |
4: 52,997,155 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,415 (GRCm39) |
K439E |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,847,797 (GRCm39) |
L261H |
probably damaging |
Het |
| Or1e32 |
C |
T |
11: 73,705,137 (GRCm39) |
G257D |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,296 (GRCm39) |
F150L |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,659,892 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,825,873 (GRCm39) |
V332E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,660,737 (GRCm39) |
M282T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,071,178 (GRCm39) |
R1067L |
possibly damaging |
Het |
| Polr1has |
T |
A |
17: 37,276,207 (GRCm39) |
M114K |
probably damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,797,126 (GRCm39) |
F206V |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,691,418 (GRCm39) |
I49V |
probably damaging |
Het |
| Rexo5 |
T |
A |
7: 119,423,119 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,151,712 (GRCm39) |
T252I |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,268,253 (GRCm39) |
K1280* |
probably null |
Het |
| Rpl24 |
T |
A |
16: 55,790,540 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
A |
17: 52,046,934 (GRCm39) |
K763* |
probably null |
Het |
| Scart2 |
T |
A |
7: 139,877,767 (GRCm39) |
H800Q |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,424,196 (GRCm39) |
R237S |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,850 (GRCm39) |
T645A |
probably damaging |
Het |
| Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,673,335 (GRCm39) |
V1480A |
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,574 (GRCm39) |
D412G |
possibly damaging |
Het |
| Tecrl |
T |
C |
5: 83,442,479 (GRCm39) |
E198G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,167 (GRCm39) |
D28G |
probably damaging |
Het |
| Trp53bp2 |
T |
G |
1: 182,269,213 (GRCm39) |
L226V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,910,253 (GRCm39) |
S799P |
possibly damaging |
Het |
| Vps13c |
A |
T |
9: 67,817,515 (GRCm39) |
Q1062H |
possibly damaging |
Het |
| Wnt10a |
T |
G |
1: 74,832,702 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,592,168 (GRCm39) |
P198S |
probably damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,180 (GRCm39) |
Y69* |
probably null |
Het |
|
| Other mutations in Arid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Arid2
|
APN |
15 |
96,270,183 (GRCm39) |
missense |
probably benign |
|
|
IGL00321:Arid2
|
APN |
15 |
96,186,970 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00434:Arid2
|
APN |
15 |
96,269,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00576:Arid2
|
APN |
15 |
96,254,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00766:Arid2
|
APN |
15 |
96,268,286 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01563:Arid2
|
APN |
15 |
96,270,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01697:Arid2
|
APN |
15 |
96,259,453 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01845:Arid2
|
APN |
15 |
96,254,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02159:Arid2
|
APN |
15 |
96,256,793 (GRCm39) |
splice site |
probably benign |
|
|
IGL02341:Arid2
|
APN |
15 |
96,270,066 (GRCm39) |
missense |
probably benign |
|
|
IGL02416:Arid2
|
APN |
15 |
96,247,936 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02578:Arid2
|
APN |
15 |
96,270,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02598:Arid2
|
APN |
15 |
96,269,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Arid2
|
APN |
15 |
96,266,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Arid2
|
APN |
15 |
96,185,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03115:Arid2
|
APN |
15 |
96,268,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Arid2
|
APN |
15 |
96,269,199 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03220:Arid2
|
APN |
15 |
96,259,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03249:Arid2
|
APN |
15 |
96,299,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03256:Arid2
|
APN |
15 |
96,268,643 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03386:Arid2
|
APN |
15 |
96,259,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Arid2
|
UTSW |
15 |
96,267,427 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
I2288:Arid2
|
UTSW |
15 |
96,267,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0254:Arid2
|
UTSW |
15 |
96,268,452 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0284:Arid2
|
UTSW |
15 |
96,276,848 (GRCm39) |
splice site |
probably benign |
|
|
R0366:Arid2
|
UTSW |
15 |
96,259,601 (GRCm39) |
splice site |
probably benign |
|
|
R0400:Arid2
|
UTSW |
15 |
96,254,806 (GRCm39) |
unclassified |
probably benign |
|
|
R0650:Arid2
|
UTSW |
15 |
96,299,930 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0651:Arid2
|
UTSW |
15 |
96,299,930 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1034:Arid2
|
UTSW |
15 |
96,267,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1615:Arid2
|
UTSW |
15 |
96,269,535 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1696:Arid2
|
UTSW |
15 |
96,268,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2024:Arid2
|
UTSW |
15 |
96,259,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Arid2
|
UTSW |
15 |
96,267,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Arid2
|
UTSW |
15 |
96,260,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Arid2
|
UTSW |
15 |
96,268,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Arid2
|
UTSW |
15 |
96,299,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Arid2
|
UTSW |
15 |
96,260,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Arid2
|
UTSW |
15 |
96,259,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Arid2
|
UTSW |
15 |
96,247,893 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2829:Arid2
|
UTSW |
15 |
96,267,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3013:Arid2
|
UTSW |
15 |
96,259,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3109:Arid2
|
UTSW |
15 |
96,254,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Arid2
|
UTSW |
15 |
96,268,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3785:Arid2
|
UTSW |
15 |
96,270,439 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3811:Arid2
|
UTSW |
15 |
96,186,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3812:Arid2
|
UTSW |
15 |
96,186,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3813:Arid2
|
UTSW |
15 |
96,267,831 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3843:Arid2
|
UTSW |
15 |
96,249,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3978:Arid2
|
UTSW |
15 |
96,261,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Arid2
|
UTSW |
15 |
96,269,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Arid2
|
UTSW |
15 |
96,290,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Arid2
|
UTSW |
15 |
96,268,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Arid2
|
UTSW |
15 |
96,269,869 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5154:Arid2
|
UTSW |
15 |
96,299,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Arid2
|
UTSW |
15 |
96,290,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5620:Arid2
|
UTSW |
15 |
96,270,387 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5766:Arid2
|
UTSW |
15 |
96,270,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6005:Arid2
|
UTSW |
15 |
96,268,853 (GRCm39) |
missense |
probably benign |
|
|
R6169:Arid2
|
UTSW |
15 |
96,266,558 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6216:Arid2
|
UTSW |
15 |
96,254,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6392:Arid2
|
UTSW |
15 |
96,259,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6430:Arid2
|
UTSW |
15 |
96,261,575 (GRCm39) |
missense |
probably benign |
|
|
R6454:Arid2
|
UTSW |
15 |
96,270,294 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6672:Arid2
|
UTSW |
15 |
96,260,226 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6776:Arid2
|
UTSW |
15 |
96,268,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6985:Arid2
|
UTSW |
15 |
96,268,029 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7132:Arid2
|
UTSW |
15 |
96,247,894 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7133:Arid2
|
UTSW |
15 |
96,276,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7453:Arid2
|
UTSW |
15 |
96,268,605 (GRCm39) |
missense |
probably benign |
|
|
R7562:Arid2
|
UTSW |
15 |
96,299,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Arid2
|
UTSW |
15 |
96,288,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7692:Arid2
|
UTSW |
15 |
96,254,578 (GRCm39) |
nonsense |
probably null |
|
|
R7792:Arid2
|
UTSW |
15 |
96,267,256 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8036:Arid2
|
UTSW |
15 |
96,266,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Arid2
|
UTSW |
15 |
96,266,592 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8327:Arid2
|
UTSW |
15 |
96,260,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Arid2
|
UTSW |
15 |
96,269,372 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9143:Arid2
|
UTSW |
15 |
96,259,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9320:Arid2
|
UTSW |
15 |
96,269,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Arid2
|
UTSW |
15 |
96,185,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9519:Arid2
|
UTSW |
15 |
96,186,948 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9651:Arid2
|
UTSW |
15 |
96,256,822 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0024:Arid2
|
UTSW |
15 |
96,270,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Arid2
|
UTSW |
15 |
96,254,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arid2
|
UTSW |
15 |
96,288,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGTAGTGATTGTGAGCCAGCC -3'
(R):5'- TGCCCAACCAATAGCTGCTGAG -3'
Sequencing Primer
(F):5'- TTGTGAGCCAGCCAGCAC -3'
(R):5'- AGCTGCTTGATGAGACTAGACTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation