Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00091:Arid2'

888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid2

Ensembl Gene

ENSMUSG00000033237

Gene Name

AT-rich interaction domain 2

Synonyms

1700124K17Rik, zipzap/p200, 4432409D24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00091

Quality Score

Status

Chromosome

Chromosomal Location

96185399-96302873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96270183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1432 (V1432A)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096250]

AlphaFold

E9Q7E2

Predicted Effect

probably benign
Transcript: ENSMUST00000096250
AA Change: V1432A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: V1432A

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,485,157 (GRCm39)	Y400F	probably benign	Het
Adamts8	C	A	9: 30,864,796 (GRCm39)	T429K	probably damaging	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Ano7	A	T	1: 93,329,888 (GRCm39)	H775L	probably benign	Het
Apoo-ps	A	T	13: 107,551,134 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,568 (GRCm39)	S88P	possibly damaging	Het
C130050O18Rik	A	G	5: 139,400,601 (GRCm39)	E218G	probably damaging	Het
Cacna2d1	T	A	5: 16,417,942 (GRCm39)	F155L	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cyp1a2	G	T	9: 57,589,352 (GRCm39)	S154*	probably null	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dmbt1	C	A	7: 130,681,270 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,059 (GRCm39)	F81L	possibly damaging	Het
Eml5	G	A	12: 98,839,468 (GRCm39)		probably benign	Het
Fpgs	A	T	2: 32,576,559 (GRCm39)		probably benign	Het
Gab2	T	C	7: 96,951,650 (GRCm39)	S537P	possibly damaging	Het
Gmds	G	A	13: 32,418,373 (GRCm39)	S37L	probably damaging	Het
Ipo13	T	C	4: 117,760,602 (GRCm39)	E626G	probably benign	Het
Kcng1	T	C	2: 168,110,684 (GRCm39)	H160R	probably benign	Het
Lama3	A	G	18: 12,713,349 (GRCm39)	T1608A	probably benign	Het
Lama4	A	C	10: 38,948,801 (GRCm39)	S855R	probably damaging	Het
Ltbp1	C	T	17: 75,532,333 (GRCm39)	H454Y	probably damaging	Het
Map3k14	C	A	11: 103,118,405 (GRCm39)	G594C	probably damaging	Het
Mcph1	A	G	8: 18,682,636 (GRCm39)	N591S	possibly damaging	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Mptx2	T	G	1: 173,102,455 (GRCm39)	N78T	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Nup50	T	A	15: 84,819,605 (GRCm39)	F293Y	probably benign	Het
Ogn	A	G	13: 49,774,514 (GRCm39)	Y219C	probably damaging	Het
Pdia3	T	C	2: 121,244,659 (GRCm39)	L47P	probably damaging	Het
Piwil4	A	T	9: 14,614,393 (GRCm39)	D786E	probably damaging	Het
Pspc1	A	G	14: 57,009,168 (GRCm39)	L222P	probably damaging	Het
Ptchd3	T	A	11: 121,721,972 (GRCm39)	Y282N	probably damaging	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpini2	T	C	3: 75,156,549 (GRCm39)	Y327C	probably damaging	Het
Spire2	A	G	8: 124,080,798 (GRCm39)	D14G	probably damaging	Het
Stab2	A	T	10: 86,705,070 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,077,577 (GRCm39)	L219P	probably damaging	Het
Tmem63a	C	T	1: 180,790,653 (GRCm39)	T437M	probably damaging	Het
Tslp	A	G	18: 32,948,448 (GRCm39)		probably benign	Het
Ttbk2	C	A	2: 120,579,314 (GRCm39)	G534*	probably null	Het
Uggt1	T	C	1: 36,218,633 (GRCm39)		probably benign	Het
Vmn2r118	T	C	17: 55,899,708 (GRCm39)	E732G	probably damaging	Het
Zfhx2	G	A	14: 55,304,022 (GRCm39)	P1321S	possibly damaging	Het
Zfp58	A	G	13: 67,639,114 (GRCm39)	V459A	probably benign	Het
Zfp831	T	C	2: 174,487,451 (GRCm39)	S709P	possibly damaging	Het

Other mutations in Arid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12