Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Arid2'

289110

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 #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

96185399-96302873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96270066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1393 (S1393L)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

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

AlphaFold

E9Q7E2

Predicted Effect

probably benign
Transcript: ENSMUST00000096250
AA Change: S1393L

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

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: S1393L

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	T	A	11: 120,163,346 (GRCm39)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,467,290 (GRCm39)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,352,978 (GRCm39)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,213,978 (GRCm39)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,251,261 (GRCm39)	I383T	probably benign	Het
Ccnk	A	G	12: 108,161,989 (GRCm39)	E298G	unknown	Het
Ccnt1	T	C	15: 98,444,664 (GRCm39)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,580,699 (GRCm39)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,610,667 (GRCm39)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah8	A	T	17: 30,966,231 (GRCm39)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,010,035 (GRCm39)	T25A	probably damaging	Het
Ears2	G	A	7: 121,638,987 (GRCm39)	A479V	probably benign	Het
Erc1	T	A	6: 119,571,934 (GRCm39)	I981F	possibly damaging	Het
Gm8730	A	G	8: 103,591,775 (GRCm39)		noncoding transcript	Het
Gm9962	C	T	7: 57,037,042 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,600,637 (GRCm39)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,120,159 (GRCm39)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,031,969 (GRCm39)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,741,946 (GRCm39)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,060,802 (GRCm39)	H100R	probably benign	Het
Lypd8l	T	C	11: 58,503,656 (GRCm39)	S17G	possibly damaging	Het
Magi2	T	A	5: 20,671,201 (GRCm39)	I678N	probably damaging	Het
Megf11	G	A	9: 64,451,902 (GRCm39)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,356,281 (GRCm39)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,164,354 (GRCm39)	S404A	probably benign	Het
Mylip	A	G	13: 45,544,752 (GRCm39)	R59G	probably damaging	Het
Mylk3	A	T	8: 86,078,601 (GRCm39)	I501N	probably damaging	Het
Myo19	A	G	11: 84,778,871 (GRCm39)		probably benign	Het
Nat2	A	G	8: 67,954,370 (GRCm39)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,455,752 (GRCm39)	A2554V	probably benign	Het
Niban3	A	T	8: 72,056,443 (GRCm39)	N381I	possibly damaging	Het
Ninl	A	T	2: 150,786,525 (GRCm39)	C153*	probably null	Het
Nlrp5	C	T	7: 23,103,577 (GRCm39)	R15C	probably benign	Het
Nphp4	A	T	4: 152,639,926 (GRCm39)		probably benign	Het
Obscn	C	A	11: 59,026,651 (GRCm39)	R184L	probably benign	Het
Or6c202	T	A	10: 128,996,302 (GRCm39)	I184F	probably benign	Het
Or6c6c	A	T	10: 129,541,358 (GRCm39)	T204S	probably damaging	Het
Or6c8	A	T	10: 128,915,330 (GRCm39)	C167*	probably null	Het
Phip	A	T	9: 82,814,936 (GRCm39)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm39)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,878,025 (GRCm39)	Y213*	probably null	Het
Scn2a	C	T	2: 65,518,721 (GRCm39)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,835,314 (GRCm39)	T120S	probably benign	Het
Sp7	T	A	15: 102,267,657 (GRCm39)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,432,750 (GRCm39)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,695,257 (GRCm39)	S67P	probably damaging	Het
Tjp1	G	A	7: 64,962,382 (GRCm39)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,672,529 (GRCm39)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,442,109 (GRCm39)	*103R	probably null	Het
Uggt1	A	T	1: 36,203,600 (GRCm39)	*47R	probably null	Het
Unc13c	T	A	9: 73,840,492 (GRCm39)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,795,175 (GRCm39)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,757,849 (GRCm39)	P594Q	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
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

2015-04-16