Incidental Mutation 'R6005:Arid2'
ID |
479446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid2
|
Ensembl Gene |
ENSMUSG00000033237 |
Gene Name |
AT-rich interaction domain 2 |
Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
MMRRC Submission |
044425-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6005 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96268853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 989
(S989P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
AlphaFold |
E9Q7E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096250
AA Change: S989P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093969 Gene: ENSMUSG00000033237 AA Change: S989P
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
99% (79/80) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
7530416G11Rik |
A |
T |
15: 85,378,310 (GRCm39) |
I111N |
unknown |
Het |
Adgb |
C |
T |
10: 10,271,096 (GRCm39) |
R849H |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,992,525 (GRCm39) |
V4603A |
possibly damaging |
Het |
Ank1 |
A |
G |
8: 23,622,218 (GRCm39) |
D1589G |
probably damaging |
Het |
Ankrd2 |
A |
G |
19: 42,028,554 (GRCm39) |
D70G |
probably damaging |
Het |
Bbs1 |
A |
T |
19: 4,953,823 (GRCm39) |
Y113* |
probably null |
Het |
Bfsp2 |
T |
G |
9: 103,325,749 (GRCm39) |
K298T |
probably damaging |
Het |
Bpi |
G |
A |
2: 158,104,400 (GRCm39) |
V168I |
possibly damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,566,819 (GRCm39) |
S921P |
probably damaging |
Het |
Clec4d |
A |
C |
6: 123,244,118 (GRCm39) |
T76P |
probably damaging |
Het |
Coq8b |
C |
T |
7: 26,956,750 (GRCm39) |
Q468* |
probably null |
Het |
Dennd6b |
T |
C |
15: 89,072,371 (GRCm39) |
E248G |
possibly damaging |
Het |
Ednra |
A |
G |
8: 78,401,556 (GRCm39) |
S245P |
possibly damaging |
Het |
Epb41l4a |
C |
T |
18: 33,961,196 (GRCm39) |
C446Y |
probably benign |
Het |
Fam221a |
A |
G |
6: 49,344,756 (GRCm39) |
|
probably benign |
Het |
Fam229a |
T |
C |
4: 129,385,296 (GRCm39) |
S76P |
probably benign |
Het |
Fryl |
C |
T |
5: 73,240,638 (GRCm39) |
D1321N |
probably damaging |
Het |
Gata3os |
T |
C |
2: 9,887,638 (GRCm39) |
|
probably benign |
Het |
Gli2 |
C |
T |
1: 118,769,794 (GRCm39) |
R586H |
probably damaging |
Het |
Gm94 |
C |
T |
18: 43,925,862 (GRCm39) |
A16T |
possibly damaging |
Het |
Gorasp2 |
T |
C |
2: 70,521,095 (GRCm39) |
V355A |
probably benign |
Het |
Grid1 |
C |
A |
14: 35,045,369 (GRCm39) |
T404N |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,284,812 (GRCm39) |
E475* |
probably null |
Het |
Gucy1a2 |
T |
C |
9: 3,865,518 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,708,924 (GRCm39) |
I153N |
probably damaging |
Het |
Il11ra1 |
T |
C |
4: 41,763,887 (GRCm39) |
|
probably null |
Het |
Ireb2 |
G |
A |
9: 54,816,089 (GRCm39) |
G887S |
probably damaging |
Het |
Kdsr |
T |
C |
1: 106,662,311 (GRCm39) |
E248G |
probably benign |
Het |
Lemd2 |
C |
G |
17: 27,409,759 (GRCm39) |
R464P |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,333 (GRCm39) |
V246A |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,368,068 (GRCm39) |
D2231V |
possibly damaging |
Het |
Map2k5 |
C |
T |
9: 63,188,301 (GRCm39) |
D283N |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,189,927 (GRCm39) |
D433G |
possibly damaging |
Het |
Mir700 |
C |
A |
4: 135,139,618 (GRCm39) |
|
probably null |
Het |
Mroh9 |
A |
T |
1: 162,903,246 (GRCm39) |
F52L |
probably damaging |
Het |
Mtrfr |
G |
T |
5: 124,478,837 (GRCm39) |
E153* |
probably null |
Het |
Mycbp2 |
A |
C |
14: 103,394,159 (GRCm39) |
S2691A |
probably benign |
Het |
Myorg |
T |
A |
4: 41,498,895 (GRCm39) |
H245L |
probably benign |
Het |
Nktr |
T |
A |
9: 121,577,460 (GRCm39) |
|
probably benign |
Het |
Obsl1 |
C |
A |
1: 75,468,859 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
A |
T |
2: 87,438,424 (GRCm39) |
I231F |
probably damaging |
Het |
Or52r1b |
A |
T |
7: 102,690,853 (GRCm39) |
I51F |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,407 (GRCm39) |
V108A |
probably benign |
Het |
Or7g35 |
C |
T |
9: 19,496,181 (GRCm39) |
T116I |
probably benign |
Het |
Or8c11 |
T |
C |
9: 38,289,605 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,652,789 (GRCm39) |
I162N |
possibly damaging |
Het |
Pde1c |
A |
T |
6: 56,456,187 (GRCm39) |
|
probably null |
Het |
Pds5b |
A |
G |
5: 150,693,241 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
C |
11: 8,807,113 (GRCm39) |
W1568G |
probably damaging |
Het |
Polr3c |
A |
T |
3: 96,626,784 (GRCm39) |
M258K |
possibly damaging |
Het |
Pramel23 |
T |
A |
4: 143,425,002 (GRCm39) |
H147L |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,276,417 (GRCm39) |
I349F |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,644,811 (GRCm39) |
*1177Q |
probably null |
Het |
Rgs22 |
T |
A |
15: 36,010,713 (GRCm39) |
K1125M |
probably benign |
Het |
Rnf182 |
A |
G |
13: 43,821,511 (GRCm39) |
K21E |
probably damaging |
Het |
Rpl6 |
G |
A |
5: 121,343,577 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
C |
T |
16: 75,670,402 (GRCm39) |
V234I |
probably benign |
Het |
Scrib |
A |
G |
15: 75,929,600 (GRCm39) |
I1089T |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,511,737 (GRCm39) |
T1092A |
probably damaging |
Het |
Sh3bp2 |
G |
T |
5: 34,719,809 (GRCm39) |
R606L |
possibly damaging |
Het |
Sipa1 |
A |
G |
19: 5,706,229 (GRCm39) |
V367A |
probably damaging |
Het |
Slc25a44 |
C |
T |
3: 88,320,153 (GRCm39) |
E269K |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,142,430 (GRCm39) |
M353K |
possibly damaging |
Het |
Sorcs2 |
A |
G |
5: 36,176,728 (GRCm39) |
S1142P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,024 (GRCm39) |
F352L |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,766,174 (GRCm39) |
N541K |
probably damaging |
Het |
Tas2r113 |
G |
A |
6: 132,870,659 (GRCm39) |
R229K |
probably benign |
Het |
Tcaf3 |
A |
T |
6: 42,566,905 (GRCm39) |
I728K |
probably benign |
Het |
Tcea1 |
A |
G |
1: 4,960,996 (GRCm39) |
E167G |
probably benign |
Het |
Timeless |
G |
A |
10: 128,080,069 (GRCm39) |
R406H |
probably damaging |
Het |
Traf6 |
C |
T |
2: 101,527,029 (GRCm39) |
R260* |
probably null |
Het |
Traj31 |
C |
T |
14: 54,425,388 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,907 (GRCm39) |
V19089D |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,666,416 (GRCm39) |
S1868L |
possibly damaging |
Het |
Wdr38 |
A |
T |
2: 38,891,333 (GRCm39) |
I287F |
possibly damaging |
Het |
Wnt2 |
G |
A |
6: 18,030,322 (GRCm39) |
|
probably benign |
Het |
Wnt5b |
G |
A |
6: 119,410,615 (GRCm39) |
P288L |
probably benign |
Het |
Xkr5 |
G |
T |
8: 18,984,521 (GRCm39) |
N174K |
probably benign |
Het |
Zbtb6 |
C |
T |
2: 37,318,977 (GRCm39) |
R317Q |
probably damaging |
Het |
Zcchc7 |
AGGGG |
AGGG |
4: 44,931,218 (GRCm39) |
|
probably null |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably 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 |
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 |
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'- AGTGATTGTGAGCCAGCCAG -3'
(R):5'- GATGAGACTAGACTCGTTGGG -3'
Sequencing Primer
(F):5'- TGTGAGCCAGCCAGCACAG -3'
(R):5'- TCGTTGGGAGCAGGCTGAC -3'
|
Posted On |
2017-06-26 |