Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01845:Arid2'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

96287518-96404992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 96356797 bp

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]

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	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 105,708,935	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617	M293I	probably damaging	Het
Acp6	A	G	3: 97,173,807	S288G	probably benign	Het
Arhgef12	T	A	9: 43,022,841	H127L	possibly damaging	Het
Ccdc15	G	A	9: 37,315,236	Q468*	probably null	Het
Ccdc93	T	C	1: 121,463,130	I277T	probably damaging	Het
Cdh8	T	C	8: 99,098,954		probably benign	Het
Cdipt	T	C	7: 126,979,553	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610	N268S	possibly damaging	Het
Clcn3	A	T	8: 60,913,095	N814K	probably benign	Het
Col6a3	T	C	1: 90,796,571	D2019G	probably damaging	Het
Corin	C	A	5: 72,353,939	G432C	probably damaging	Het
Cyld	C	T	8: 88,705,775	Q134*	probably null	Het
Dhh	C	A	15: 98,897,983	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,169	V4239A	probably benign	Het
Dock2	T	C	11: 34,708,865	I296V	probably benign	Het
Gabbr1	T	C	17: 37,048,414		probably benign	Het
Gbp10	T	C	5: 105,219,949		probably null	Het
Ispd	A	G	12: 36,547,919	R350G	probably benign	Het
Itgam	T	A	7: 128,112,472	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,613,940	V430A	probably benign	Het
Kdm4a	A	G	4: 118,160,459	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,970,525	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,199,660		probably benign	Het
Mgea5	T	A	19: 45,767,862	E447D	probably benign	Het
Mier2	A	T	10: 79,549,584	C137S	possibly damaging	Het
Morc3	A	G	16: 93,860,567	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,322,387	M217K	possibly damaging	Het
Msl1	A	G	11: 98,805,365		probably null	Het
Myh2	A	G	11: 67,193,034	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,825,849	L622P	possibly damaging	Het
Olfr1419	A	G	19: 11,870,524	S231P	probably benign	Het
Olfr181	T	C	16: 58,926,566	M2V	probably benign	Het
Olfr339	A	C	2: 36,422,093	K232Q	probably benign	Het
Olfr393	A	G	11: 73,847,472	Y218H	probably damaging	Het
Olfr504	T	A	7: 108,565,136	I220L	possibly damaging	Het
Phf20	C	A	2: 156,276,657	S427*	probably null	Het
Pirt	G	A	11: 66,925,968	S35N	probably damaging	Het
Prss28	C	A	17: 25,310,037	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 180,283,311	C34R	probably damaging	Het
Rtn3	A	T	19: 7,457,876	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,368		probably benign	Het
Sh3bp2	T	A	5: 34,556,003	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,757,518	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,353,903	V622A	probably benign	Het
Thbd	A	G	2: 148,407,096	V284A	probably benign	Het
Tmc5	T	C	7: 118,652,510	F609L	possibly damaging	Het
Tnr	T	C	1: 159,868,006		probably benign	Het
Ttc17	A	T	2: 94,332,832	Y881*	probably null	Het
Ttc41	A	T	10: 86,776,624	T1254S	probably benign	Het
Ttn	C	T	2: 76,810,003	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdr19	A	G	5: 65,225,366	I478V	probably damaging	Het
Zan	T	C	5: 137,380,854		probably benign	Het
Zp2	T	A	7: 120,138,191	D258V	probably 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
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
IGL02598:Arid2	APN	15	96371536	missense	probably damaging	1.00
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

2014-05-07