Incidental Mutation 'IGL01845:Arid2'
| ID |
178196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arid2
|
| Ensembl Gene |
ENSMUSG00000033237 |
| Gene Name |
AT rich interactive domain 2 (ARID, RFX-like) |
| Synonyms |
4432409D24Rik, 1700124K17Rik, zipzap/p200 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
96287518-96404992 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 96356797 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 175
(F175V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096250]
[ENSMUST00000134985]
|
| AlphaFold |
E9Q7E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096250
AA Change: F175V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: F175V
| 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 |
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
C |
17: 14,944,118 (GRCm38) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 105,708,935 (GRCm38) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm38) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,173,807 (GRCm38) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 43,022,841 (GRCm38) |
H127L |
possibly damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,315,236 (GRCm38) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,463,130 (GRCm38) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,098,954 (GRCm38) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,979,553 (GRCm38) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm38) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 60,913,095 (GRCm38) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,796,571 (GRCm38) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,353,939 (GRCm38) |
G432C |
probably damaging |
Het |
| Cyld |
C |
T |
8: 88,705,775 (GRCm38) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,897,983 (GRCm38) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,169 (GRCm38) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,708,865 (GRCm38) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,048,414 (GRCm38) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,219,949 (GRCm38) |
|
probably null |
Het |
| Ispd |
A |
G |
12: 36,547,919 (GRCm38) |
R350G |
probably benign |
Het |
| Itgam |
T |
A |
7: 128,112,472 (GRCm38) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,613,940 (GRCm38) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,160,459 (GRCm38) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,970,525 (GRCm38) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,199,660 (GRCm38) |
|
probably benign |
Het |
| Mgea5 |
T |
A |
19: 45,767,862 (GRCm38) |
E447D |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,549,584 (GRCm38) |
C137S |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,860,567 (GRCm38) |
Y393C |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,322,387 (GRCm38) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,805,365 (GRCm38) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,193,034 (GRCm38) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,825,849 (GRCm38) |
L622P |
possibly damaging |
Het |
| Olfr1419 |
A |
G |
19: 11,870,524 (GRCm38) |
S231P |
probably benign |
Het |
| Olfr181 |
T |
C |
16: 58,926,566 (GRCm38) |
M2V |
probably benign |
Het |
| Olfr339 |
A |
C |
2: 36,422,093 (GRCm38) |
K232Q |
probably benign |
Het |
| Olfr393 |
A |
G |
11: 73,847,472 (GRCm38) |
Y218H |
probably damaging |
Het |
| Olfr504 |
T |
A |
7: 108,565,136 (GRCm38) |
I220L |
possibly damaging |
Het |
| Phf20 |
C |
A |
2: 156,276,657 (GRCm38) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,925,968 (GRCm38) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,310,037 (GRCm38) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,283,311 (GRCm38) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,457,876 (GRCm38) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,368 (GRCm38) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,556,003 (GRCm38) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,757,518 (GRCm38) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,353,903 (GRCm38) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,407,096 (GRCm38) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,652,510 (GRCm38) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,868,006 (GRCm38) |
|
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,332,832 (GRCm38) |
Y881* |
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,776,624 (GRCm38) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,810,003 (GRCm38) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,363,896 (GRCm38) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,225,366 (GRCm38) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,380,854 (GRCm38) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 120,138,191 (GRCm38) |
D258V |
probably damaging |
Het |
|
| Other mutations in Arid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Arid2
|
APN |
15 |
96,372,302 (GRCm38) |
missense |
probably benign |
|
|
IGL00321:Arid2
|
APN |
15 |
96,289,089 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00434:Arid2
|
APN |
15 |
96,371,300 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00576:Arid2
|
APN |
15 |
96,356,758 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00766:Arid2
|
APN |
15 |
96,370,405 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01563:Arid2
|
APN |
15 |
96,372,397 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01697:Arid2
|
APN |
15 |
96,361,572 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02159:Arid2
|
APN |
15 |
96,358,912 (GRCm38) |
splice site |
probably benign |
|
|
IGL02341:Arid2
|
APN |
15 |
96,372,185 (GRCm38) |
missense |
probably benign |
|
|
IGL02416:Arid2
|
APN |
15 |
96,350,055 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL02578:Arid2
|
APN |
15 |
96,372,235 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02598:Arid2
|
APN |
15 |
96,371,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02644:Arid2
|
APN |
15 |
96,368,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02653:Arid2
|
APN |
15 |
96,287,702 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03115:Arid2
|
APN |
15 |
96,370,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03137:Arid2
|
APN |
15 |
96,371,318 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL03220:Arid2
|
APN |
15 |
96,361,772 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03249:Arid2
|
APN |
15 |
96,401,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03256:Arid2
|
APN |
15 |
96,370,762 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03386:Arid2
|
APN |
15 |
96,361,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
H8562:Arid2
|
UTSW |
15 |
96,369,546 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
I2288:Arid2
|
UTSW |
15 |
96,369,511 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0254:Arid2
|
UTSW |
15 |
96,370,571 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0284:Arid2
|
UTSW |
15 |
96,378,967 (GRCm38) |
splice site |
probably benign |
|
|
R0347:Arid2
|
UTSW |
15 |
96,370,952 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0366:Arid2
|
UTSW |
15 |
96,361,720 (GRCm38) |
splice site |
probably benign |
|
|
R0400:Arid2
|
UTSW |
15 |
96,356,925 (GRCm38) |
unclassified |
probably benign |
|
|
R0650:Arid2
|
UTSW |
15 |
96,402,049 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0651:Arid2
|
UTSW |
15 |
96,402,049 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1034:Arid2
|
UTSW |
15 |
96,369,505 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1615:Arid2
|
UTSW |
15 |
96,371,654 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1696:Arid2
|
UTSW |
15 |
96,370,183 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2024:Arid2
|
UTSW |
15 |
96,361,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2046:Arid2
|
UTSW |
15 |
96,369,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2069:Arid2
|
UTSW |
15 |
96,362,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2149:Arid2
|
UTSW |
15 |
96,370,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2300:Arid2
|
UTSW |
15 |
96,402,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2336:Arid2
|
UTSW |
15 |
96,362,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2359:Arid2
|
UTSW |
15 |
96,361,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2368:Arid2
|
UTSW |
15 |
96,350,012 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2829:Arid2
|
UTSW |
15 |
96,369,454 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3013:Arid2
|
UTSW |
15 |
96,361,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3109:Arid2
|
UTSW |
15 |
96,356,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3765:Arid2
|
UTSW |
15 |
96,370,714 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3785:Arid2
|
UTSW |
15 |
96,372,558 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3811:Arid2
|
UTSW |
15 |
96,289,086 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3812:Arid2
|
UTSW |
15 |
96,289,086 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3813:Arid2
|
UTSW |
15 |
96,369,950 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3843:Arid2
|
UTSW |
15 |
96,351,840 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3978:Arid2
|
UTSW |
15 |
96,363,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4279:Arid2
|
UTSW |
15 |
96,371,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Arid2
|
UTSW |
15 |
96,392,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4597:Arid2
|
UTSW |
15 |
96,370,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5020:Arid2
|
UTSW |
15 |
96,371,988 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5154:Arid2
|
UTSW |
15 |
96,401,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5303:Arid2
|
UTSW |
15 |
96,392,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5620:Arid2
|
UTSW |
15 |
96,372,506 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5766:Arid2
|
UTSW |
15 |
96,372,205 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6005:Arid2
|
UTSW |
15 |
96,370,972 (GRCm38) |
missense |
probably benign |
|
|
R6169:Arid2
|
UTSW |
15 |
96,368,677 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6216:Arid2
|
UTSW |
15 |
96,356,909 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6392:Arid2
|
UTSW |
15 |
96,361,602 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6430:Arid2
|
UTSW |
15 |
96,363,694 (GRCm38) |
missense |
probably benign |
|
|
R6454:Arid2
|
UTSW |
15 |
96,372,413 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6672:Arid2
|
UTSW |
15 |
96,362,345 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6776:Arid2
|
UTSW |
15 |
96,370,949 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6985:Arid2
|
UTSW |
15 |
96,370,148 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7132:Arid2
|
UTSW |
15 |
96,350,013 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7133:Arid2
|
UTSW |
15 |
96,378,875 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7453:Arid2
|
UTSW |
15 |
96,370,724 (GRCm38) |
missense |
probably benign |
|
|
R7562:Arid2
|
UTSW |
15 |
96,401,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7594:Arid2
|
UTSW |
15 |
96,390,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7692:Arid2
|
UTSW |
15 |
96,356,697 (GRCm38) |
nonsense |
probably null |
|
|
R7792:Arid2
|
UTSW |
15 |
96,369,375 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8036:Arid2
|
UTSW |
15 |
96,368,744 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Arid2
|
UTSW |
15 |
96,368,711 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8327:Arid2
|
UTSW |
15 |
96,362,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9065:Arid2
|
UTSW |
15 |
96,371,491 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9143:Arid2
|
UTSW |
15 |
96,361,834 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9320:Arid2
|
UTSW |
15 |
96,371,186 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9346:Arid2
|
UTSW |
15 |
96,287,911 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Arid2
|
UTSW |
15 |
96,289,067 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9651:Arid2
|
UTSW |
15 |
96,358,941 (GRCm38) |
missense |
probably benign |
0.44 |
|
X0024:Arid2
|
UTSW |
15 |
96,372,490 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0066:Arid2
|
UTSW |
15 |
96,356,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Arid2
|
UTSW |
15 |
96,390,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation