Incidental Mutation 'R5154:Arid2'
| ID |
396609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
042736-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96299866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1793
(V1793E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: V1793E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: V1793E
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176951
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,938 (GRCm39) |
H48P |
probably damaging |
Het |
| Angptl7 |
C |
T |
4: 148,581,882 (GRCm39) |
R168H |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,619,878 (GRCm39) |
F1325V |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,694,297 (GRCm39) |
D266G |
possibly damaging |
Het |
| Apold1 |
A |
T |
6: 134,960,636 (GRCm39) |
H30L |
possibly damaging |
Het |
| Arel1 |
A |
G |
12: 84,978,547 (GRCm39) |
F362L |
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,771,455 (GRCm39) |
M1254K |
probably benign |
Het |
| Bcl7a |
T |
C |
5: 123,507,422 (GRCm39) |
S156P |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,482,027 (GRCm39) |
I128V |
probably benign |
Het |
| Cct6b |
G |
A |
11: 82,630,521 (GRCm39) |
P299L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,282 (GRCm39) |
N443Y |
probably damaging |
Het |
| Cd80 |
A |
G |
16: 38,294,342 (GRCm39) |
K75R |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,176,298 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,983,755 (GRCm39) |
F1565I |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,942,694 (GRCm39) |
T412A |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,126,464 (GRCm39) |
L1590P |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,522,053 (GRCm39) |
R845S |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Cnnm2 |
A |
T |
19: 46,751,571 (GRCm39) |
R454W |
probably benign |
Het |
| Cpne8 |
T |
G |
15: 90,384,121 (GRCm39) |
I480L |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,754 (GRCm39) |
W400R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,537,167 (GRCm39) |
L528P |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,177 (GRCm39) |
V119M |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,571,320 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,551,642 (GRCm39) |
K2881N |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,946,008 (GRCm39) |
I288F |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,029,657 (GRCm39) |
T478S |
possibly damaging |
Het |
| Edn1 |
C |
T |
13: 42,458,499 (GRCm39) |
T104I |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,145,662 (GRCm39) |
H1157R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,857,180 (GRCm39) |
T179I |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,775,131 (GRCm39) |
V210A |
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,085,081 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
| Gpr141 |
C |
T |
13: 19,936,412 (GRCm39) |
R121K |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,089,583 (GRCm39) |
I281N |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,371 (GRCm39) |
Y289* |
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,380,808 (GRCm39) |
V214G |
probably benign |
Het |
| Igf2bp1 |
G |
A |
11: 95,854,373 (GRCm39) |
Q563* |
probably null |
Het |
| Il31ra |
T |
A |
13: 112,660,531 (GRCm39) |
D605V |
possibly damaging |
Het |
| Insm2 |
G |
A |
12: 55,646,982 (GRCm39) |
C242Y |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,322,868 (GRCm39) |
V121I |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,278,994 (GRCm39) |
L48F |
possibly damaging |
Het |
| Kit |
G |
A |
5: 75,801,200 (GRCm39) |
V529M |
probably damaging |
Het |
| Mark2 |
G |
A |
19: 7,260,439 (GRCm39) |
P13S |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,479 (GRCm39) |
V364A |
probably damaging |
Het |
| Mtmr11 |
C |
G |
3: 96,071,636 (GRCm39) |
S185R |
probably benign |
Het |
| Myot |
A |
G |
18: 44,487,281 (GRCm39) |
I373V |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,139 (GRCm39) |
V231D |
probably benign |
Het |
| Or5t17 |
T |
C |
2: 86,832,382 (GRCm39) |
V23A |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,121 (GRCm39) |
Y278* |
probably null |
Het |
| Pdcd6ip |
A |
G |
9: 113,520,610 (GRCm39) |
F125L |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,095,051 (GRCm39) |
Q124L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,193,763 (GRCm39) |
N1398K |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,482,122 (GRCm39) |
D97E |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,647,880 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,672,433 (GRCm39) |
I349V |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,142,939 (GRCm39) |
*502R |
probably null |
Het |
| Slc9b1 |
T |
C |
3: 135,078,940 (GRCm39) |
I199T |
probably damaging |
Het |
| Spart |
C |
T |
3: 55,024,750 (GRCm39) |
P115L |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 99,006,813 (GRCm39) |
C205S |
possibly damaging |
Het |
| Tubb1 |
T |
A |
2: 174,298,657 (GRCm39) |
I113N |
probably benign |
Het |
| Tyrp1 |
G |
A |
4: 80,768,954 (GRCm39) |
V483I |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,215,757 (GRCm39) |
S100G |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,527,207 (GRCm39) |
I1035F |
probably damaging |
Het |
| Zfp618 |
G |
T |
4: 63,051,446 (GRCm39) |
K742N |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,025 (GRCm39) |
V252A |
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 |
|
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 |
|
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'- GAGCCTCCTCTTTCTACAAAGCTG -3'
(R):5'- TCTCAGCATCATGGAGGACAC -3'
Sequencing Primer
(F):5'- CTACAAAGCTGTACTAGTGTCGGC -3'
(R):5'- AGACTTGGTGCTTTCTTCAGTAACAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation