Incidental Mutation 'R6985:Arid2'
| ID |
542935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
045092-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6985 (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 96268029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 714
(V714A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096250
AA Change: V714A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: V714A
| 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 |
|
| Meta Mutation Damage Score |
0.0998 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin1 |
A |
G |
4: 123,630,649 (GRCm39) |
*192R |
probably null |
Het |
| Ankar |
A |
C |
1: 72,697,641 (GRCm39) |
L836R |
probably damaging |
Het |
| Anxa7 |
G |
T |
14: 20,521,636 (GRCm39) |
A20E |
unknown |
Het |
| Arhgap1 |
T |
A |
2: 91,498,543 (GRCm39) |
Y147N |
probably damaging |
Het |
| Arrdc3 |
T |
C |
13: 81,031,776 (GRCm39) |
L3P |
probably damaging |
Het |
| Bhmt2 |
T |
C |
13: 93,799,830 (GRCm39) |
D202G |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,437,095 (GRCm39) |
R98G |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,146 (GRCm39) |
Y319H |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,529 (GRCm39) |
F115S |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,460,757 (GRCm39) |
N1755S |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,656,378 (GRCm39) |
N893S |
probably benign |
Het |
| Ctsh |
G |
A |
9: 89,936,657 (GRCm39) |
A19T |
possibly damaging |
Het |
| Cttn |
C |
A |
7: 144,006,324 (GRCm39) |
E214* |
probably null |
Het |
| Des |
A |
G |
1: 75,343,431 (GRCm39) |
E438G |
possibly damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,615,679 (GRCm39) |
V109A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,132 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,934 (GRCm39) |
I2184T |
probably benign |
Het |
| Enc1 |
C |
T |
13: 97,381,628 (GRCm39) |
T46I |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,896,108 (GRCm39) |
S670P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,201,460 (GRCm39) |
V1319E |
probably damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,296,957 (GRCm39) |
V302E |
probably benign |
Het |
| Fgfr3 |
G |
C |
5: 33,892,785 (GRCm39) |
E744Q |
probably null |
Het |
| Gmps |
T |
A |
3: 63,922,960 (GRCm39) |
I641N |
probably damaging |
Het |
| Gpc2 |
T |
A |
5: 138,276,670 (GRCm39) |
Y152F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,782,228 (GRCm39) |
D1305G |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,252 (GRCm39) |
T14A |
probably benign |
Het |
| Insr |
T |
A |
8: 3,211,372 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,154,731 (GRCm39) |
G127C |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,276,456 (GRCm39) |
N65S |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 125,850,738 (GRCm39) |
I1101M |
possibly damaging |
Het |
| Lrrc55 |
T |
G |
2: 85,022,274 (GRCm39) |
N306H |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,944,161 (GRCm39) |
S329P |
probably damaging |
Het |
| Mapkap1 |
T |
G |
2: 34,322,122 (GRCm39) |
H13Q |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,315,594 (GRCm39) |
L60S |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,817 (GRCm39) |
M626L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,444,117 (GRCm39) |
V1914I |
possibly damaging |
Het |
| Myo5b |
T |
C |
18: 74,786,432 (GRCm39) |
F442L |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,775,757 (GRCm39) |
M545K |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,531,275 (GRCm39) |
V645E |
probably damaging |
Het |
| Or52z14 |
A |
G |
7: 103,252,875 (GRCm39) |
T5A |
probably benign |
Het |
| Or5af2 |
T |
C |
11: 58,707,939 (GRCm39) |
F35S |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,946,615 (GRCm39) |
Y231* |
probably null |
Het |
| Pcdhb19 |
A |
G |
18: 37,630,211 (GRCm39) |
E2G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,223 (GRCm39) |
T178I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,214,643 (GRCm39) |
S613P |
probably damaging |
Het |
| Pon1 |
T |
G |
6: 5,168,345 (GRCm39) |
D354A |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,758,783 (GRCm39) |
I379S |
probably damaging |
Het |
| Rbm17 |
T |
G |
2: 11,595,504 (GRCm39) |
M234L |
probably benign |
Het |
| Rex1bd |
T |
C |
8: 70,958,555 (GRCm39) |
S71G |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,994,337 (GRCm39) |
I833V |
unknown |
Het |
| Slc35f1 |
C |
A |
10: 52,898,007 (GRCm39) |
D139E |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,879,429 (GRCm39) |
I36F |
probably benign |
Het |
| Sstr4 |
T |
A |
2: 148,238,169 (GRCm39) |
M260K |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trat1 |
A |
G |
16: 48,574,634 (GRCm39) |
Y55H |
probably damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,828,075 (GRCm39) |
T3124A |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,821,074 (GRCm39) |
F1385Y |
possibly damaging |
Het |
| Xrcc3 |
T |
C |
12: 111,778,530 (GRCm39) |
D7G |
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 |
|
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 |
|
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'- GAGGACTCCTGTCACCAATC -3'
(R):5'- GGATTACTGTGACAGGAGTGCC -3'
Sequencing Primer
(F):5'- AGGACTCCTGTCACCAATCAATCTTC -3'
(R):5'- TGCCTGAAGGGACCTGTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation