Incidental Mutation 'R0650:Arid2'
| ID |
62232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
038835-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0650 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96299930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1814
(F1814L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096250
AA Change: F1814L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: F1814L
| 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
|
| Meta Mutation Damage Score |
0.0925 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N15Rik |
A |
G |
X: 68,989,391 (GRCm39) |
S96G |
unknown |
Het |
| 4930447C04Rik |
T |
C |
12: 72,956,830 (GRCm39) |
D120G |
probably damaging |
Het |
| Actmap |
A |
T |
7: 26,902,072 (GRCm39) |
H233L |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,548,627 (GRCm39) |
H534Q |
possibly damaging |
Het |
| Ankar |
G |
A |
1: 72,695,380 (GRCm39) |
|
probably benign |
Het |
| Asb15 |
C |
T |
6: 24,566,163 (GRCm39) |
A372V |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,709,421 (GRCm39) |
D403V |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,433 (GRCm39) |
D407G |
probably benign |
Het |
| Ccdc121 |
T |
C |
5: 31,643,312 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,556,526 (GRCm39) |
V633A |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,185,571 (GRCm39) |
Y2482C |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,439,761 (GRCm39) |
E964G |
probably benign |
Het |
| Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,460,443 (GRCm39) |
N18D |
probably damaging |
Het |
| Fis1 |
T |
A |
5: 136,991,048 (GRCm39) |
V4E |
probably damaging |
Het |
| Gba2 |
T |
A |
4: 43,570,424 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
C |
T |
7: 42,469,504 (GRCm39) |
G207R |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,804,640 (GRCm39) |
|
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,290,691 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,762,958 (GRCm39) |
S896A |
probably damaging |
Het |
| Huwe1 |
T |
C |
X: 150,659,309 (GRCm39) |
S921P |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,927 (GRCm39) |
Y220* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,937,920 (GRCm39) |
D139G |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,384,921 (GRCm39) |
N392D |
probably damaging |
Het |
| L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,019,622 (GRCm39) |
I440F |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,942,084 (GRCm39) |
A718V |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,666 (GRCm39) |
I51V |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,424,408 (GRCm39) |
R25* |
probably null |
Het |
| Npdc1 |
C |
T |
2: 25,298,021 (GRCm39) |
T199I |
probably benign |
Het |
| Nup98 |
T |
A |
7: 101,801,660 (GRCm39) |
Y755F |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,966,996 (GRCm39) |
C100S |
probably damaging |
Het |
| Or5p76 |
G |
T |
7: 108,122,289 (GRCm39) |
N289K |
probably damaging |
Het |
| Or8g22 |
T |
A |
9: 38,957,996 (GRCm39) |
M240L |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,161,797 (GRCm39) |
I493F |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,780 (GRCm39) |
I895V |
probably benign |
Het |
| Peg10 |
T |
TCCCCANNANNNN |
6: 4,756,475 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,726 (GRCm39) |
L457* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,945,482 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plcg1 |
C |
T |
2: 160,595,283 (GRCm39) |
|
probably benign |
Het |
| Prr13 |
A |
C |
15: 102,370,650 (GRCm39) |
*138C |
probably null |
Het |
| Prrc2b |
T |
C |
2: 32,119,267 (GRCm39) |
|
probably benign |
Het |
| Psph |
T |
C |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,344,746 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
G |
9: 75,576,617 (GRCm39) |
S253P |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,964,255 (GRCm39) |
F940L |
probably benign |
Het |
| Slbp |
T |
C |
5: 33,802,833 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Susd5 |
A |
T |
9: 113,911,603 (GRCm39) |
H171L |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,664 (GRCm39) |
E354G |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,735,412 (GRCm39) |
N845D |
possibly damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,939,050 (GRCm39) |
I666N |
probably damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,029,285 (GRCm39) |
I111T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,971 (GRCm39) |
T852A |
probably benign |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,625 (GRCm39) |
I185K |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,974 (GRCm39) |
E305G |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,668,959 (GRCm39) |
V22A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,031,051 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,627 (GRCm39) |
Q191L |
probably benign |
Het |
| Urod |
T |
C |
4: 116,848,473 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,889,574 (GRCm39) |
Q723* |
probably null |
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 |
|
|
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'- TCAACGATGACCCTGGAGACTGAC -3'
(R):5'- TGCAGATAAGCTGGTTGACAATCCC -3'
Sequencing Primer
(F):5'- CCCTGGAGACTGACAATGTG -3'
(R):5'- TTGACAATCCCACAGCAGtttttg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation