Incidental Mutation 'R2046:Arid2'
| ID |
222027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
040053-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96267268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 583
(V583I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: V583I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: V583I
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (71/73) |
| 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 |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,227,212 (GRCm39) |
Y328F |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
| Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
| Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
| Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
| Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
| Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
| Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
| Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
| Itga11 |
C |
T |
9: 62,634,979 (GRCm39) |
L86F |
probably damaging |
Het |
| Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
| Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
| Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
| Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
| Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
| Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
| Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
| Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
T |
2: 27,105,094 (GRCm39) |
D676E |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,914 (GRCm39) |
M892V |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
| Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
| Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
| Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
| Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
| Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
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 |
|
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'- CGACTCTGTCATGTTGAAGATG -3'
(R):5'- TACAAAGTACAGAGCCAGGC -3'
Sequencing Primer
(F):5'- TCTGGCTGAAGATAAGACTTTTTG -3'
(R):5'- GCCTATAATCCTAGCTTTCAGGAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation