Incidental Mutation 'R7562:Arid2'
| ID |
585225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
045627-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 96299849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1787
(H1787Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: H1787Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: H1787Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,563 (GRCm39) |
T544M |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
| Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
| Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
| Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
| Ccdc80 |
C |
T |
16: 44,943,266 (GRCm39) |
A792V |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
| Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,081 (GRCm39) |
W103R |
possibly damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
| Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
| Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
| Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
| Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
| Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
| Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,031,306 (GRCm39) |
A415S |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
| Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
| Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
| Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
| Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
| Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
| Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
| Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
| Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,682,412 (GRCm39) |
T269A |
probably benign |
Het |
| Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
| Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
| Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
probably benign |
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 |
|
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 |
|
|
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'- AGTGTCACCTGAGTGTGAGG -3'
(R):5'- TATTTGACTTTGAGACCCCACTG -3'
Sequencing Primer
(F):5'- ACCTGAGTGTGAGGTGCAGC -3'
(R):5'- TTGAGACCCCACTGTGTCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation