Incidental Mutation 'R5020:Arid2'
| ID |
389166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT-rich interaction domain 2 |
| Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
| MMRRC Submission |
042611-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5020 (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 96269869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1327
(N1327K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: N1327K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: N1327K
| 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 |
0.0621 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (72/73) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,042,929 (GRCm39) |
|
probably null |
Het |
| Actl6a |
A |
G |
3: 32,774,656 (GRCm39) |
I340V |
possibly damaging |
Het |
| Alppl2 |
C |
T |
1: 87,017,431 (GRCm39) |
V19I |
probably benign |
Het |
| Ankrd34c |
T |
C |
9: 89,611,759 (GRCm39) |
K194R |
probably benign |
Het |
| Anpep |
T |
A |
7: 79,483,475 (GRCm39) |
M672L |
probably benign |
Het |
| Arhgap31 |
T |
C |
16: 38,423,438 (GRCm39) |
D876G |
probably damaging |
Het |
| Atp5f1d |
C |
A |
10: 79,981,263 (GRCm39) |
P101Q |
probably benign |
Het |
| Bcl7b |
G |
A |
5: 135,200,017 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,483,901 (GRCm39) |
S2907C |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,134 (GRCm39) |
E350G |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,811 (GRCm39) |
D2929E |
probably damaging |
Het |
| Clec2i |
T |
A |
6: 128,870,621 (GRCm39) |
V78E |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,237,897 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
T |
16: 59,375,159 (GRCm39) |
V2032I |
possibly damaging |
Het |
| Eif5b |
A |
T |
1: 38,058,150 (GRCm39) |
K151* |
probably null |
Het |
| Gemin7 |
T |
A |
7: 19,299,348 (GRCm39) |
E82D |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,633,152 (GRCm39) |
E45G |
possibly damaging |
Het |
| Gm21915 |
T |
C |
9: 40,581,966 (GRCm39) |
S20P |
probably damaging |
Het |
| Gm8126 |
A |
C |
14: 43,119,026 (GRCm39) |
E165A |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,405 (GRCm39) |
D1047G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,201,397 (GRCm39) |
Y150F |
probably damaging |
Het |
| Inhca |
T |
C |
9: 103,159,701 (GRCm39) |
D70G |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,245,315 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,365,217 (GRCm39) |
Q645R |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,897,868 (GRCm39) |
M712V |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,015,255 (GRCm39) |
S823P |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,662,068 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Mga |
A |
T |
2: 119,781,654 (GRCm39) |
K2136* |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,652,204 (GRCm39) |
E304G |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,445,984 (GRCm39) |
D29E |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,424,713 (GRCm39) |
I984N |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,469,270 (GRCm39) |
Y628H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,331,076 (GRCm39) |
C440Y |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,136,637 (GRCm39) |
V29A |
probably benign |
Het |
| Or6p1 |
T |
G |
1: 174,258,237 (GRCm39) |
L81R |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,022,016 (GRCm39) |
V513A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,869 (GRCm39) |
N124S |
probably benign |
Het |
| Phf12 |
T |
C |
11: 77,914,622 (GRCm39) |
F139S |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,666,714 (GRCm39) |
L1081H |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,323 (GRCm39) |
F160I |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,091,540 (GRCm39) |
D115A |
probably damaging |
Het |
| Plekho1 |
A |
G |
3: 95,896,851 (GRCm39) |
F215S |
probably damaging |
Het |
| Psma4 |
C |
A |
9: 54,860,056 (GRCm39) |
A47E |
probably damaging |
Het |
| Rasa4 |
A |
C |
5: 136,130,153 (GRCm39) |
Q303P |
probably damaging |
Het |
| Rbmxl2 |
C |
T |
7: 106,809,414 (GRCm39) |
P233L |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,239,636 (GRCm39) |
L877H |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,964,307 (GRCm39) |
|
probably null |
Het |
| Septin12 |
T |
C |
16: 4,811,620 (GRCm39) |
D116G |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,263 (GRCm39) |
V670E |
probably damaging |
Het |
| Spag9 |
T |
A |
11: 93,988,612 (GRCm39) |
I544N |
probably benign |
Het |
| Spsb3 |
T |
G |
17: 25,106,036 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,652 (GRCm39) |
F164L |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,836 (GRCm39) |
T59A |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,566,531 (GRCm39) |
I649K |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,793 (GRCm39) |
D37G |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,113 (GRCm39) |
A496V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,035,889 (GRCm39) |
I123N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,955 (GRCm39) |
S234T |
possibly damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,741 (GRCm39) |
S314* |
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,801,892 (GRCm39) |
F1922S |
probably damaging |
Het |
| Zfp219 |
C |
T |
14: 52,247,112 (GRCm39) |
R5H |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,674,584 (GRCm39) |
C446F |
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 |
|
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 |
|
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'- TGGAGAATCCTTCCTGTCGG -3'
(R):5'- CCGAAGTCCCTTGTGGTTCTAC -3'
Sequencing Primer
(F):5'- AATCCTTCCTGTCGGCGAGG -3'
(R):5'- GTGGTTCTACTGGAGATATCTCACC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation