Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02653:Arid2'

302238

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 #

IGL02653

Quality Score

Status

Chromosome

Chromosomal Location

96185399-96302873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96185583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 3 (N3S)

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: N3S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: N3S

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
AA Change: N3S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135829
Gene: ENSMUSG00000033237
AA Change: N3S

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: ENSMUST00000180852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185067

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,765,191 (GRCm39)		probably benign	Het
Alox5	T	A	6: 116,392,438 (GRCm39)	H361L	probably benign	Het
Atp1a4	T	A	1: 172,078,973 (GRCm39)	I182F	possibly damaging	Het
Cby2	T	C	14: 75,820,597 (GRCm39)	D385G	probably damaging	Het
Ctnna2	A	T	6: 76,957,760 (GRCm39)	D496E	probably benign	Het
Cyp3a25	G	T	5: 145,939,920 (GRCm39)	S29Y	possibly damaging	Het
Dglucy	G	A	12: 100,837,690 (GRCm39)	G611D	probably benign	Het
Efcab5	T	C	11: 77,022,848 (GRCm39)	K622E	probably damaging	Het
Esyt1	T	A	10: 128,346,877 (GRCm39)	I1071L	probably benign	Het
Fbn2	T	C	18: 58,209,777 (GRCm39)	K1035E	probably benign	Het
Frem1	T	G	4: 82,877,571 (GRCm39)	E1335D	probably benign	Het
Gm5900	A	G	7: 104,599,340 (GRCm39)		noncoding transcript	Het
Ikbke	T	A	1: 131,199,572 (GRCm39)	Q283L	possibly damaging	Het
Lepr	A	T	4: 101,622,141 (GRCm39)	I358F	probably benign	Het
Lnpk	A	G	2: 74,378,392 (GRCm39)	V123A	probably damaging	Het
Mis12	A	G	11: 70,916,357 (GRCm39)	K130R	probably damaging	Het
Ncapg2	T	A	12: 116,389,526 (GRCm39)		probably null	Het
Npy6r	T	C	18: 44,409,694 (GRCm39)	*372Q	probably null	Het
Polr3d	T	C	14: 70,677,557 (GRCm39)	D273G	probably damaging	Het
Ppp2r3d	A	G	9: 101,088,892 (GRCm39)	V477A	probably benign	Het
Prpf19	T	A	19: 10,880,328 (GRCm39)		probably benign	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Pwwp2a	A	G	11: 43,596,862 (GRCm39)	T676A	possibly damaging	Het
Ralgapb	T	A	2: 158,285,229 (GRCm39)	I242N	probably damaging	Het
Scn3a	A	T	2: 65,291,531 (GRCm39)	S1738R	probably damaging	Het
Snapc1	C	A	12: 74,029,261 (GRCm39)	P348Q	probably benign	Het
Tbc1d7	T	C	13: 43,318,874 (GRCm39)	I88V	probably benign	Het
Tnks2	T	C	19: 36,849,851 (GRCm39)	S220P	probably damaging	Het
Trim56	A	T	5: 137,141,760 (GRCm39)	S585R	probably damaging	Het
Trpm2	T	G	10: 77,748,503 (GRCm39)	E1389A	probably benign	Het
Tspear	T	A	10: 77,542,799 (GRCm39)		probably benign	Het
Vmn1r180	T	C	7: 23,652,500 (GRCm39)	I221T	probably damaging	Het
Vmn1r204	A	C	13: 22,740,800 (GRCm39)	I144L	probably benign	Het
Vmn2r20	A	T	6: 123,362,324 (GRCm39)	I820N	probably damaging	Het
Vwa3b	T	A	1: 37,214,646 (GRCm39)		probably benign	Het
Wnt1	G	A	15: 98,690,336 (GRCm39)	G222R	probably damaging	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
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

2015-04-16