Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02598:Arid2'

299960

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

96287518-96404992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96371536 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1177 (V1177M)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096250
AA Change: V1177M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: V1177M

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,943,621	M1K	probably null	Het
Abca13	C	T	11: 9,431,898	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,668,369	L95*	probably null	Het
Acacb	A	G	5: 114,246,037	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,938,544		probably benign	Het
Atp8a1	A	T	5: 67,682,756		probably null	Het
BC048403	G	A	10: 121,739,971		probably benign	Het
Catsperd	A	G	17: 56,647,815		probably null	Het
Cd28	A	G	1: 60,763,339		probably benign	Het
Cep164	A	G	9: 45,770,704	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,862,967	I2377V	probably benign	Het
Csmd3	T	C	15: 47,669,690	K1581E	probably damaging	Het
Dab2	A	T	15: 6,429,366	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,884,019		probably benign	Het
Efcab14	T	A	4: 115,740,434	C75*	probably null	Het
Elovl1	T	C	4: 118,431,419		probably null	Het
Eps8l2	T	G	7: 141,354,936		probably benign	Het
Gm4907	A	T	X: 23,907,471	T404S	probably benign	Het
Grik1	A	T	16: 87,947,984	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,007,742	S35P	probably benign	Het
Ifi203	A	G	1: 173,935,002		probably benign	Het
Ifi209	T	C	1: 173,644,715	V374A	probably damaging	Het
Lars	A	G	18: 42,227,277	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,421,648		probably benign	Het
Limd1	T	A	9: 123,480,171	Y312N	probably benign	Het
Limd1	T	C	9: 123,516,868	S571P	probably benign	Het
Lin28b	A	T	10: 45,420,526	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,793,140	S416P	probably damaging	Het
Map7d3	T	C	X: 56,809,786	T446A	probably benign	Het
Masp1	T	A	16: 23,459,631	M523L	probably benign	Het
Mroh4	C	A	15: 74,611,243		probably null	Het
Mtmr6	G	A	14: 60,300,504	A651T	probably damaging	Het
Myocd	A	G	11: 65,183,470	S738P	probably benign	Het
Olfr1176	A	T	2: 88,340,251	I229F	possibly damaging	Het
Olfr685	A	G	7: 105,180,956	V134A	probably damaging	Het
Olfr714	A	T	7: 107,074,716	N296I	possibly damaging	Het
Olfr803	A	T	10: 129,691,273	I256N	possibly damaging	Het
Olfr984	A	T	9: 40,100,565	F308L	probably benign	Het
Parg	G	T	14: 32,214,324	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,413,781	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,360,475	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,524,420	E400G	probably damaging	Het
Prss54	C	A	8: 95,565,709	V81F	probably damaging	Het
Pzp	A	G	6: 128,487,457	L1369P	probably benign	Het
Rfx8	A	T	1: 39,695,968		probably benign	Het
Rgs6	C	T	12: 83,091,797	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,457	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,578,996	D350G	probably benign	Het
Slc33a1	C	T	3: 63,943,332	G524S	probably benign	Het
Slc5a7	A	G	17: 54,284,193	V237A	probably benign	Het
Spink7	T	C	18: 62,594,285	D56G	probably damaging	Het
Syn3	A	G	10: 86,467,199	S31P	probably damaging	Het
Thrb	C	A	14: 18,008,606	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 86,228,671	T506K	probably benign	Het
Vps45	A	G	3: 96,031,042	L486P	probably benign	Het
Zan	G	A	5: 137,446,211	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,314,527	Q14L	probably benign	Het
Zfp990	A	T	4: 145,536,963	N177I	possibly damaging	Het

Other mutations in Arid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Arid2	APN	15	96372302	missense	probably benign
IGL00321:Arid2	APN	15	96289089	missense	probably damaging	0.97
IGL00434:Arid2	APN	15	96371300	missense	probably damaging	0.99
IGL00576:Arid2	APN	15	96356758	missense	probably damaging	0.99
IGL00766:Arid2	APN	15	96370405	missense	probably benign	0.09
IGL01563:Arid2	APN	15	96372397	missense	probably damaging	0.99
IGL01697:Arid2	APN	15	96361572	critical splice acceptor site	probably null
IGL01845:Arid2	APN	15	96356797	missense	probably damaging	1.00
IGL02159:Arid2	APN	15	96358912	splice site	probably benign
IGL02341:Arid2	APN	15	96372185	missense	probably benign
IGL02416:Arid2	APN	15	96350055	missense	possibly damaging	0.63
IGL02578:Arid2	APN	15	96372235	missense	probably benign	0.00
IGL02644:Arid2	APN	15	96368708	missense	probably damaging	1.00
IGL02653:Arid2	APN	15	96287702	missense	probably damaging	0.99
IGL03115:Arid2	APN	15	96370273	missense	probably damaging	1.00
IGL03137:Arid2	APN	15	96371318	missense	probably benign	0.44
IGL03220:Arid2	APN	15	96361772	missense	probably damaging	0.99
IGL03249:Arid2	APN	15	96401965	missense	probably damaging	1.00
IGL03256:Arid2	APN	15	96370762	missense	probably benign	0.18
IGL03386:Arid2	APN	15	96361574	missense	probably damaging	1.00
H8562:Arid2	UTSW	15	96369546	missense	possibly damaging	0.77
I2288:Arid2	UTSW	15	96369511	missense	possibly damaging	0.95
R0254:Arid2	UTSW	15	96370571	missense	probably damaging	0.97
R0284:Arid2	UTSW	15	96378967	splice site	probably benign
R0347:Arid2	UTSW	15	96370952	missense	probably benign	0.01
R0366:Arid2	UTSW	15	96361720	splice site	probably benign
R0400:Arid2	UTSW	15	96356925	unclassified	probably benign
R0650:Arid2	UTSW	15	96402049	missense	possibly damaging	0.47
R0651:Arid2	UTSW	15	96402049	missense	possibly damaging	0.47
R1034:Arid2	UTSW	15	96369505	missense	probably benign	0.01
R1615:Arid2	UTSW	15	96371654	missense	possibly damaging	0.59
R1696:Arid2	UTSW	15	96370183	missense	probably benign	0.01
R2024:Arid2	UTSW	15	96361799	missense	probably damaging	1.00
R2046:Arid2	UTSW	15	96369387	missense	probably damaging	1.00
R2069:Arid2	UTSW	15	96362590	missense	probably damaging	1.00
R2149:Arid2	UTSW	15	96370835	missense	probably damaging	1.00
R2300:Arid2	UTSW	15	96402006	missense	probably damaging	1.00
R2336:Arid2	UTSW	15	96362549	missense	probably damaging	1.00
R2359:Arid2	UTSW	15	96361878	missense	probably damaging	1.00
R2368:Arid2	UTSW	15	96350012	missense	possibly damaging	0.83
R2829:Arid2	UTSW	15	96369454	missense	possibly damaging	0.95
R3013:Arid2	UTSW	15	96361936	missense	probably damaging	1.00
R3109:Arid2	UTSW	15	96356746	missense	probably damaging	1.00
R3765:Arid2	UTSW	15	96370714	missense	probably benign	0.01
R3785:Arid2	UTSW	15	96372558	missense	possibly damaging	0.83
R3811:Arid2	UTSW	15	96289086	missense	probably benign	0.01
R3812:Arid2	UTSW	15	96289086	missense	probably benign	0.01
R3813:Arid2	UTSW	15	96369950	missense	probably benign	0.26
R3843:Arid2	UTSW	15	96351840	missense	possibly damaging	0.86
R3978:Arid2	UTSW	15	96363622	missense	probably damaging	1.00
R4279:Arid2	UTSW	15	96371756	missense	probably damaging	1.00
R4569:Arid2	UTSW	15	96392462	missense	probably damaging	1.00
R4597:Arid2	UTSW	15	96370856	missense	probably damaging	1.00
R5020:Arid2	UTSW	15	96371988	missense	probably damaging	0.96
R5154:Arid2	UTSW	15	96401985	missense	probably damaging	1.00
R5303:Arid2	UTSW	15	96392468	missense	probably damaging	1.00
R5620:Arid2	UTSW	15	96372506	missense	probably benign	0.20
R5766:Arid2	UTSW	15	96372205	missense	probably benign	0.01
R6005:Arid2	UTSW	15	96370972	missense	probably benign
R6169:Arid2	UTSW	15	96368677	missense	probably benign	0.36
R6216:Arid2	UTSW	15	96356909	missense	probably benign	0.18
R6392:Arid2	UTSW	15	96361602	missense	probably damaging	0.99
R6430:Arid2	UTSW	15	96363694	missense	probably benign
R6454:Arid2	UTSW	15	96372413	missense	probably benign	0.20
R6672:Arid2	UTSW	15	96362345	missense	probably benign	0.30
R6776:Arid2	UTSW	15	96370949	missense	probably benign	0.00
R6985:Arid2	UTSW	15	96370148	missense	probably benign	0.06
R7132:Arid2	UTSW	15	96350013	missense	possibly damaging	0.67
R7133:Arid2	UTSW	15	96378875	missense	probably damaging	0.99
R7453:Arid2	UTSW	15	96370724	missense	probably benign
R7562:Arid2	UTSW	15	96401968	missense	probably damaging	1.00
R7594:Arid2	UTSW	15	96390994	missense	probably damaging	1.00
R7692:Arid2	UTSW	15	96356697	nonsense	probably null
R7792:Arid2	UTSW	15	96369375	missense	probably benign	0.05
R8036:Arid2	UTSW	15	96368744	missense	probably damaging	1.00
R8094:Arid2	UTSW	15	96368711	missense	possibly damaging	0.86
R8327:Arid2	UTSW	15	96362604	missense	probably damaging	1.00
X0024:Arid2	UTSW	15	96372490	missense	probably benign	0.00
X0066:Arid2	UTSW	15	96356804	missense	probably damaging	1.00
Z1177:Arid2	UTSW	15	96390986	missense	probably damaging	0.99

Posted On

2015-04-16