Incidental Mutation 'R2024:Arid2'
| ID |
220343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
040033-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96259680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 280
(D280G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: D280G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: D280G
| 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: ENSMUST00000175735
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 90.8%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosa |
A |
G |
9: 74,917,672 (GRCm39) |
D757G |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,390 (GRCm39) |
R77* |
probably null |
Het |
| Chd8 |
T |
C |
14: 52,468,950 (GRCm39) |
D556G |
probably benign |
Het |
| Cit |
T |
C |
5: 116,085,983 (GRCm39) |
M849T |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,143,899 (GRCm39) |
S1923P |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,639,185 (GRCm39) |
H1120L |
probably benign |
Het |
| Col6a5 |
G |
T |
9: 105,814,193 (GRCm39) |
H606Q |
unknown |
Het |
| Dnajc2 |
A |
C |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,914,457 (GRCm39) |
D514G |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,129,062 (GRCm39) |
S1818P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
| Emc1 |
G |
A |
4: 139,088,257 (GRCm39) |
E342K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,329,592 (GRCm39) |
D45G |
probably benign |
Het |
| Fchsd2 |
A |
C |
7: 100,847,740 (GRCm39) |
D210A |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,186,722 (GRCm39) |
M58K |
probably damaging |
Het |
| Gabra5 |
G |
A |
7: 57,138,698 (GRCm39) |
R117C |
probably damaging |
Het |
| Gm6741 |
G |
A |
17: 91,544,309 (GRCm39) |
S24N |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,462,107 (GRCm39) |
D675G |
possibly damaging |
Het |
| Hectd4 |
T |
G |
5: 121,419,981 (GRCm39) |
V642G |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,560,317 (GRCm39) |
T119M |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,206,530 (GRCm39) |
S371P |
probably damaging |
Het |
| Idua |
C |
T |
5: 108,828,600 (GRCm39) |
A271V |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,623,072 (GRCm39) |
C125* |
probably null |
Het |
| Krt14 |
C |
T |
11: 100,098,044 (GRCm39) |
G80R |
unknown |
Het |
| Lama5 |
T |
C |
2: 179,820,923 (GRCm39) |
Y3176C |
probably benign |
Het |
| Lce1k |
C |
T |
3: 92,713,809 (GRCm39) |
C125Y |
unknown |
Het |
| Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
| Meioc |
C |
T |
11: 102,566,184 (GRCm39) |
A600V |
probably benign |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Mms22l |
A |
G |
4: 24,588,365 (GRCm39) |
Y999C |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,944,346 (GRCm39) |
M116K |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,428,266 (GRCm39) |
I38T |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,168 (GRCm39) |
M199K |
possibly damaging |
Het |
| Padi6 |
T |
G |
4: 140,456,279 (GRCm39) |
I572L |
possibly damaging |
Het |
| Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,746,272 (GRCm39) |
V1906A |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,410,404 (GRCm39) |
|
probably benign |
Het |
| Psmd9 |
T |
C |
5: 123,379,925 (GRCm39) |
F115L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,415 (GRCm39) |
F160L |
probably damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,720,665 (GRCm39) |
R234S |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,245 (GRCm39) |
Y40F |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,201 (GRCm39) |
V672A |
possibly damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,393,857 (GRCm39) |
I287V |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,703 (GRCm39) |
E1033G |
probably benign |
Het |
| Slc5a9 |
G |
A |
4: 111,747,728 (GRCm39) |
T284I |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,872,507 (GRCm39) |
L743P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,677,923 (GRCm39) |
N1473I |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
| Tectb |
T |
C |
19: 55,170,361 (GRCm39) |
F71L |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,882,858 (GRCm39) |
V1921A |
probably damaging |
Het |
| Ubn1 |
T |
G |
16: 4,882,487 (GRCm39) |
L316W |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,647,357 (GRCm39) |
S579P |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,228,300 (GRCm39) |
L367P |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,974 (GRCm39) |
Y324S |
possibly damaging |
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 |
|
|
R0347:Arid2
|
UTSW |
15 |
96,268,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- GTGCGAGATCTCATTTCTGACAG -3'
(R):5'- TTAAGGATCTGCCACGTGC -3'
Sequencing Primer
(F):5'- TTTCTGACAGAAACAAGGCTCATGG -3'
(R):5'- CAGCTGCGATATTCCCTAAGGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation