Incidental Mutation 'R6216:Arid2'
ID |
503745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid2
|
Ensembl Gene |
ENSMUSG00000033237 |
Gene Name |
AT-rich interaction domain 2 |
Synonyms |
1700124K17Rik, zipzap/p200, 4432409D24Rik |
MMRRC Submission |
044349-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6216 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
96185399-96302873 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96254790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 212
(D212G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
[ENSMUST00000134985]
|
AlphaFold |
E9Q7E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096250
AA Change: D212G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000093969 Gene: ENSMUSG00000033237 AA Change: D212G
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 |
probably benign
Transcript: ENSMUST00000134985
|
SMART Domains |
Protein: ENSMUSP00000135829 Gene: ENSMUSG00000033237
Domain | Start | End | E-Value | Type |
ARID
|
10 |
101 |
9.67e-36 |
SMART |
BRIGHT
|
14 |
106 |
3.67e-34 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175735
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (67/69) |
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 |
1700017B05Rik |
T |
C |
9: 57,164,910 (GRCm39) |
D488G |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,672,590 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh3 |
G |
A |
2: 93,838,881 (GRCm39) |
|
probably benign |
Het |
Ankrd22 |
A |
T |
19: 34,101,569 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
Bbx |
A |
T |
16: 50,071,751 (GRCm39) |
S225T |
probably benign |
Het |
Bivm |
T |
A |
1: 44,166,028 (GRCm39) |
|
probably null |
Het |
Bpifb3 |
A |
G |
2: 153,767,773 (GRCm39) |
Y282C |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,597,793 (GRCm39) |
I1767N |
probably damaging |
Het |
Ccdc28a |
G |
T |
10: 18,100,719 (GRCm39) |
S36* |
probably null |
Het |
Ccser2 |
A |
G |
14: 36,662,465 (GRCm39) |
S240P |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,171,421 (GRCm39) |
S348T |
probably benign |
Het |
Ddx49 |
C |
T |
8: 70,749,934 (GRCm39) |
G161D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,193,864 (GRCm39) |
E353G |
possibly damaging |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
Etv2 |
A |
G |
7: 30,334,036 (GRCm39) |
|
probably null |
Het |
Extl1 |
T |
C |
4: 134,090,441 (GRCm39) |
T345A |
probably benign |
Het |
Fam163a |
A |
T |
1: 155,954,741 (GRCm39) |
S137T |
probably benign |
Het |
Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,694,742 (GRCm39) |
C388R |
probably damaging |
Het |
Galnt18 |
A |
C |
7: 111,112,757 (GRCm39) |
V470G |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,749,397 (GRCm39) |
I602F |
probably damaging |
Het |
Gucy1b1 |
G |
T |
3: 81,954,020 (GRCm39) |
|
probably null |
Het |
Hace1 |
T |
C |
10: 45,494,643 (GRCm39) |
V151A |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,379,929 (GRCm39) |
D258E |
probably benign |
Het |
Heatr1 |
C |
T |
13: 12,447,545 (GRCm39) |
T1746I |
probably benign |
Het |
Hrnr |
T |
C |
3: 93,239,469 (GRCm39) |
S3236P |
unknown |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kiz |
C |
A |
2: 146,731,417 (GRCm39) |
D302E |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,806,343 (GRCm39) |
W619R |
probably damaging |
Het |
Mfap3l |
C |
A |
8: 61,124,841 (GRCm39) |
T361K |
probably damaging |
Het |
Mlec |
T |
C |
5: 115,288,376 (GRCm39) |
H160R |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,365,494 (GRCm39) |
L89P |
probably benign |
Het |
Neb |
T |
C |
2: 52,114,564 (GRCm39) |
I4232V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,302,433 (GRCm39) |
I334V |
possibly damaging |
Het |
Nipbl |
A |
C |
15: 8,347,867 (GRCm39) |
F1942V |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,665 (GRCm39) |
I181N |
probably benign |
Het |
Or4a70 |
C |
A |
2: 89,324,066 (GRCm39) |
V197F |
probably damaging |
Het |
Or4c11c |
T |
C |
2: 88,661,655 (GRCm39) |
S65P |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,698,902 (GRCm39) |
Y220H |
probably damaging |
Het |
Pabpc2 |
G |
T |
18: 39,907,772 (GRCm39) |
A346S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,971,171 (GRCm39) |
T393A |
unknown |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,981 (GRCm39) |
T259S |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,669,224 (GRCm39) |
L253H |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,869 (GRCm39) |
D1428G |
probably benign |
Het |
Pkd1l2 |
T |
G |
8: 117,808,209 (GRCm39) |
D105A |
probably damaging |
Het |
Pou2f1 |
G |
T |
1: 165,707,889 (GRCm39) |
|
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,921 (GRCm39) |
E100G |
probably damaging |
Het |
Ppp1r15a |
G |
T |
7: 45,173,446 (GRCm39) |
T454K |
probably damaging |
Het |
Prpsap1 |
A |
T |
11: 116,362,239 (GRCm39) |
I381N |
probably damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,265 (GRCm39) |
V262E |
probably damaging |
Het |
Rab21 |
A |
T |
10: 115,130,831 (GRCm39) |
H158Q |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,426,357 (GRCm39) |
S830P |
probably damaging |
Het |
Rdh1 |
G |
A |
10: 127,600,622 (GRCm39) |
S215N |
probably benign |
Het |
Rhot1 |
G |
A |
11: 80,141,885 (GRCm39) |
R463H |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Selenom |
A |
T |
11: 3,464,915 (GRCm39) |
|
probably benign |
Het |
Selenop |
T |
C |
15: 3,308,947 (GRCm39) |
C300R |
probably damaging |
Het |
Skint1 |
T |
A |
4: 111,878,679 (GRCm39) |
S204T |
probably benign |
Het |
Ss18l1 |
A |
G |
2: 179,703,706 (GRCm39) |
N313S |
unknown |
Het |
Sycp2l |
A |
G |
13: 41,295,200 (GRCm39) |
D289G |
probably damaging |
Het |
Terf1 |
C |
T |
1: 15,889,221 (GRCm39) |
H188Y |
probably benign |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trdn |
A |
G |
10: 33,181,065 (GRCm39) |
T357A |
probably damaging |
Het |
Trip11 |
A |
C |
12: 101,856,859 (GRCm39) |
M401R |
probably benign |
Het |
Ubald2 |
A |
C |
11: 116,325,211 (GRCm39) |
D26A |
probably benign |
Het |
Ube2w |
C |
G |
1: 16,689,508 (GRCm39) |
|
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,811,267 (GRCm39) |
S450R |
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 |
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 |
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'- TCCACGATTAACTTACAACATGTGG -3'
(R):5'- AAGTCGATGGCAAATTCTCAACAC -3'
Sequencing Primer
(F):5'- ACTTACAACATGTGGTTTCGTG -3'
(R):5'- GGCAAATTCTCAACACTTTTTGC -3'
|
Posted On |
2018-02-27 |