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 interactive domain 2 (ARID, RFX-like)

Synonyms

4432409D24Rik, 1700124K17Rik, zipzap/p200

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02653

Quality Score

Status

Chromosome

Chromosomal Location

96287518-96404992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96287702 bp (GRCm38)

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: 46,115,767 (GRCm38)		probably benign	Het
Alox5	T	A	6: 116,415,477 (GRCm38)	H361L	probably benign	Het
Atp1a4	T	A	1: 172,251,406 (GRCm38)	I182F	possibly damaging	Het
Ctnna2	A	T	6: 76,980,777 (GRCm38)	D496E	probably benign	Het
Cyp3a25	G	T	5: 146,003,110 (GRCm38)	S29Y	possibly damaging	Het
Dglucy	G	A	12: 100,871,431 (GRCm38)	G611D	probably benign	Het
Efcab5	T	C	11: 77,132,022 (GRCm38)	K622E	probably damaging	Het
Esyt1	T	A	10: 128,511,008 (GRCm38)	I1071L	probably benign	Het
Fbn2	T	C	18: 58,076,705 (GRCm38)	K1035E	probably benign	Het
Frem1	T	G	4: 82,959,334 (GRCm38)	E1335D	probably benign	Het
Gm5900	A	G	7: 104,950,133 (GRCm38)		noncoding transcript	Het
Ikbke	T	A	1: 131,271,835 (GRCm38)	Q283L	possibly damaging	Het
Lepr	A	T	4: 101,764,944 (GRCm38)	I358F	probably benign	Het
Lnpk	A	G	2: 74,548,048 (GRCm38)	V123A	probably damaging	Het
Mis12	A	G	11: 71,025,531 (GRCm38)	K130R	probably damaging	Het
Ncapg2	T	A	12: 116,425,906 (GRCm38)		probably null	Het
Npy6r	T	C	18: 44,276,627 (GRCm38)	*372Q	probably null	Het
Polr3d	T	C	14: 70,440,117 (GRCm38)	D273G	probably damaging	Het
Ppp2r3a	A	G	9: 101,211,693 (GRCm38)	V477A	probably benign	Het
Prpf19	T	A	19: 10,902,964 (GRCm38)		probably benign	Het
Pwwp2a	A	G	11: 43,706,035 (GRCm38)	T676A	possibly damaging	Het
Ralgapb	T	A	2: 158,443,309 (GRCm38)	I242N	probably damaging	Het
Scn3a	A	T	2: 65,461,187 (GRCm38)	S1738R	probably damaging	Het
Snapc1	C	A	12: 73,982,487 (GRCm38)	P348Q	probably benign	Het
Spert	T	C	14: 75,583,157 (GRCm38)	D385G	probably damaging	Het
Tbc1d7	T	C	13: 43,165,398 (GRCm38)	I88V	probably benign	Het
Tnks2	T	C	19: 36,872,451 (GRCm38)	S220P	probably damaging	Het
Trim56	A	T	5: 137,112,906 (GRCm38)	S585R	probably damaging	Het
Trpm2	T	G	10: 77,912,669 (GRCm38)	E1389A	probably benign	Het
Tspear	T	A	10: 77,706,965 (GRCm38)		probably benign	Het
Vmn1r180	T	C	7: 23,953,075 (GRCm38)	I221T	probably damaging	Het
Vmn1r204	A	C	13: 22,556,630 (GRCm38)	I144L	probably benign	Het
Vmn2r20	A	T	6: 123,385,365 (GRCm38)	I820N	probably damaging	Het
Vwa3b	T	A	1: 37,175,565 (GRCm38)		probably benign	Het
Wnt1	G	A	15: 98,792,455 (GRCm38)	G222R	probably damaging	Het
Zadh2	T	C	18: 84,095,318 (GRCm38)	V373A	possibly 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
IGL01845:Arid2	APN	15	96,356,797 (GRCm38)	missense	probably damaging	1.00
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
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

2015-04-16