Incidental Mutation 'R0284:Arid2'
| ID |
24636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
038505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 96276848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096250
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.4%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
A |
G |
7: 30,013,413 (GRCm39) |
T161A |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,725 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,339,149 (GRCm39) |
|
probably benign |
Het |
| Bmp2k |
A |
T |
5: 97,216,314 (GRCm39) |
H604L |
unknown |
Het |
| Cacna1a |
A |
T |
8: 85,338,914 (GRCm39) |
M1705L |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,794,062 (GRCm39) |
D1526E |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,975 (GRCm39) |
R107G |
possibly damaging |
Het |
| Cklf |
T |
C |
8: 104,988,207 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
A |
G |
9: 54,672,210 (GRCm39) |
K9E |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,793,423 (GRCm39) |
D386G |
probably damaging |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,014 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,464,684 (GRCm39) |
V393E |
probably damaging |
Het |
| Ednrb |
C |
T |
14: 104,057,449 (GRCm39) |
G371D |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,994,353 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,061,608 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,183,362 (GRCm39) |
|
probably benign |
Het |
| Foxo6 |
T |
C |
4: 120,126,199 (GRCm39) |
S199G |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,063,823 (GRCm39) |
|
probably null |
Het |
| Gys1 |
A |
T |
7: 45,086,143 (GRCm39) |
|
probably benign |
Het |
| Igfbp1 |
T |
C |
11: 7,148,103 (GRCm39) |
S49P |
probably damaging |
Het |
| Incenp |
A |
T |
19: 9,871,357 (GRCm39) |
S91T |
unknown |
Het |
| Itpkc |
G |
A |
7: 26,913,968 (GRCm39) |
R498* |
probably null |
Het |
| Kat6a |
A |
G |
8: 23,429,819 (GRCm39) |
T1725A |
unknown |
Het |
| Kiz |
T |
A |
2: 146,705,730 (GRCm39) |
C97S |
probably benign |
Het |
| Kri1 |
A |
G |
9: 21,187,848 (GRCm39) |
|
probably benign |
Het |
| Lipn |
A |
G |
19: 34,058,106 (GRCm39) |
S276G |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,967 (GRCm39) |
T881A |
probably damaging |
Het |
| Man1a2 |
T |
C |
3: 100,592,102 (GRCm39) |
H26R |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,876,359 (GRCm39) |
F173I |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,855 (GRCm39) |
Q341R |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,569,431 (GRCm39) |
A928S |
probably benign |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nipsnap3a |
C |
T |
4: 52,997,178 (GRCm39) |
T150I |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,797,427 (GRCm39) |
E97G |
probably damaging |
Het |
| Or11j4 |
G |
A |
14: 50,630,452 (GRCm39) |
V80M |
probably damaging |
Het |
| Or4f54 |
T |
C |
2: 111,122,931 (GRCm39) |
V106A |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,848 (GRCm39) |
Y72F |
probably benign |
Het |
| Or8c11 |
G |
A |
9: 38,289,880 (GRCm39) |
M234I |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,855,207 (GRCm39) |
F220L |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,491,572 (GRCm39) |
L552S |
probably damaging |
Het |
| Plekhf2 |
T |
C |
4: 10,990,595 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,332,622 (GRCm39) |
E96G |
probably damaging |
Het |
| Prpf40a |
T |
A |
2: 53,040,659 (GRCm39) |
E608D |
probably damaging |
Het |
| Prpf40b |
A |
T |
15: 99,214,274 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
C |
2: 101,460,464 (GRCm39) |
V258A |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,518,881 (GRCm39) |
I68V |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,648 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,226,740 (GRCm39) |
V492A |
probably damaging |
Het |
| Spag6l |
T |
A |
16: 16,598,630 (GRCm39) |
Q287L |
probably damaging |
Het |
| Spmip6 |
T |
G |
4: 41,507,538 (GRCm39) |
E150A |
probably damaging |
Het |
| Synpo2 |
C |
T |
3: 122,873,383 (GRCm39) |
W211* |
probably null |
Het |
| Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
A |
G |
17: 47,630,471 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
C |
2: 76,677,048 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,871,372 (GRCm39) |
M1900K |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,037,610 (GRCm39) |
D691V |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,829,083 (GRCm39) |
Y974C |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 120,997,214 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AGTCACAGAAGCCAAGATGTCACAG -3'
(R):5'- CTGACACGGATACAGACCTTTCAGC -3'
Sequencing Primer
(F):5'- GAATTGTGTACCTGTCACTAATGTCC -3'
(R):5'- CATGCCTCTTGTTCCAGGTA -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation