Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Arid2'

226990

Institutional Source

Beutler Lab

Gene Symbol

Arid2

Ensembl Gene

ENSMUSG00000033237

Gene Name

AT rich interactive domain 2 (ARID, RFX-like)

Synonyms

4432409D24Rik, 1700124K17Rik, zipzap/p200

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96287518-96404992 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96362590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 407 (L407F)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

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

AlphaFold

E9Q7E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000096250
AA Change: L407F

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

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: L407F

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: ENSMUST00000175735

Meta Mutation Damage Score

0.1351

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 114,874,280 (GRCm38)	V86A	probably benign	Het
Abcc3	A	T	11: 94,364,417 (GRCm38)	I601N	probably damaging	Het
Abl2	T	A	1: 156,620,827 (GRCm38)		probably null	Het
Adgrf4	C	T	17: 42,666,898 (GRCm38)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,959,996 (GRCm38)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,600 (GRCm38)	G247D	probably damaging	Het
Atp13a1	T	C	8: 69,799,773 (GRCm38)	F606L	probably benign	Het
Avl9	T	A	6: 56,736,435 (GRCm38)		probably benign	Het
B3glct	C	T	5: 149,709,380 (GRCm38)	A65V	probably damaging	Het
Bcorl1	T	C	X: 48,401,917 (GRCm38)		probably benign	Het
Bdp1	T	C	13: 100,050,988 (GRCm38)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,316,021 (GRCm38)	M263T	probably benign	Het
Brd8	T	C	18: 34,614,479 (GRCm38)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,990,844 (GRCm38)	D1052G	probably damaging	Het
Capn9	G	A	8: 124,605,711 (GRCm38)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 95,557,296 (GRCm38)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,812,481 (GRCm38)		probably null	Het
Ccr9	T	C	9: 123,779,364 (GRCm38)	F37S	probably benign	Het
Cdh7	A	T	1: 110,138,159 (GRCm38)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,778,372 (GRCm38)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,236,176 (GRCm38)		probably benign	Het
Cfi	A	G	3: 129,858,804 (GRCm38)		probably null	Het
Chd1	T	C	17: 15,742,294 (GRCm38)	F771S	probably damaging	Het
Chil4	G	A	3: 106,219,455 (GRCm38)	L4F	probably benign	Het
Cilp	G	A	9: 65,278,090 (GRCm38)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725 (GRCm38)	G402R	probably benign	Het
Coq8b	A	G	7: 27,257,377 (GRCm38)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,941,492 (GRCm38)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,388 (GRCm38)		probably null	Het
Dnmt3l	T	C	10: 78,052,732 (GRCm38)	V156A	probably damaging	Het
Duox1	A	T	2: 122,333,062 (GRCm38)	T792S	probably benign	Het
Duox2	T	C	2: 122,287,108 (GRCm38)	D915G	probably benign	Het
Efcab5	A	T	11: 77,172,321 (GRCm38)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,877,185 (GRCm38)	D139N	probably benign	Het
Erg	A	G	16: 95,361,078 (GRCm38)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,542,998 (GRCm38)	S650R	probably damaging	Het
Fbp2	T	A	13: 62,854,061 (GRCm38)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,758,372 (GRCm38)	S496A	probably damaging	Het
Gab3	C	A	X: 75,000,095 (GRCm38)	R475L	probably damaging	Het
Gm7534	T	G	4: 134,201,941 (GRCm38)	N351T	possibly damaging	Het
Gsap	T	C	5: 21,226,839 (GRCm38)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm38)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,183,786 (GRCm38)	A2447V	possibly damaging	Het
Hrasls5	T	C	19: 7,612,638 (GRCm38)	S10P	possibly damaging	Het
Insc	G	T	7: 114,804,593 (GRCm38)		probably null	Het
Jph2	A	G	2: 163,339,685 (GRCm38)	S520P	possibly damaging	Het
Kidins220	T	A	12: 24,987,006 (GRCm38)		probably benign	Het
Krtap29-1	A	G	11: 99,978,612 (GRCm38)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,793,733 (GRCm38)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,950,027 (GRCm38)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,342,738 (GRCm38)		probably benign	Het
Mboat2	T	C	12: 24,951,443 (GRCm38)	V281A	probably benign	Het
Mdga2	G	A	12: 66,568,917 (GRCm38)	R570*	probably null	Het
Mlxipl	A	G	5: 135,107,005 (GRCm38)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,136,760 (GRCm38)	I679M	probably benign	Het
Myh4	T	C	11: 67,246,366 (GRCm38)		probably benign	Het
Nfib	A	C	4: 82,498,615 (GRCm38)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,241,450 (GRCm38)	Y227*	probably null	Het
Nrde2	A	G	12: 100,142,232 (GRCm38)	S367P	probably damaging	Het
Nup93	C	A	8: 94,243,739 (GRCm38)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Olfr1283	A	G	2: 111,369,095 (GRCm38)	I154M	probably benign	Het
Olfr6	A	T	7: 106,956,287 (GRCm38)	Y216*	probably null	Het
Olfr714	A	T	7: 107,074,619 (GRCm38)	K264*	probably null	Het
Olfr749	T	A	14: 50,736,576 (GRCm38)	E195D	possibly damaging	Het
Olfr824	A	G	10: 130,126,205 (GRCm38)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,092,525 (GRCm38)	A319S	probably null	Het
P2ry10	A	G	X: 107,103,253 (GRCm38)	S265G	probably benign	Het
Peak1	A	T	9: 56,258,759 (GRCm38)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,821,231 (GRCm38)	Q168L	probably benign	Het
Plec	A	G	15: 76,188,926 (GRCm38)	M604T	probably benign	Het
Pmfbp1	A	T	8: 109,532,103 (GRCm38)	N680I	possibly damaging	Het
Pnmal2	T	C	7: 16,945,789 (GRCm38)	W233R	probably damaging	Het
Pxn	A	G	5: 115,545,667 (GRCm38)	N186S	probably benign	Het
Rsad1	A	C	11: 94,549,125 (GRCm38)		probably benign	Het
Runx2	A	G	17: 44,735,342 (GRCm38)	I112T	probably benign	Het
S1pr2	A	T	9: 20,967,494 (GRCm38)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,238,132 (GRCm38)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,726,980 (GRCm38)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 66,654,629 (GRCm38)	V242D	probably damaging	Het
Sp100	A	G	1: 85,681,142 (GRCm38)		probably null	Het
Spryd3	A	C	15: 102,118,181 (GRCm38)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,970,317 (GRCm38)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm38)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,240,440 (GRCm38)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,037,938 (GRCm38)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,766,087 (GRCm38)	D1154E	unknown	Het
Trap1	A	G	16: 4,068,336 (GRCm38)	S86P	probably benign	Het
Trim32	T	A	4: 65,614,776 (GRCm38)	C523*	probably null	Het
Ttc38	G	T	15: 85,838,788 (GRCm38)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,631,796 (GRCm38)	L131Q	probably damaging	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Ttn	T	C	2: 76,726,848 (GRCm38)		probably benign	Het
Ubash3b	G	A	9: 41,043,573 (GRCm38)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,948,099 (GRCm38)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,479,540 (GRCm38)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm38)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,224,483 (GRCm38)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,556,098 (GRCm38)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 42,300,001 (GRCm38)	D615G	probably benign	Het
Wdr24	T	A	17: 25,826,282 (GRCm38)	D330E	probably damaging	Het
Zbbx	A	T	3: 75,078,412 (GRCm38)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,792,328 (GRCm38)	Q757L	probably 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
IGL02653:Arid2	APN	15	96,287,702 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- ACAAAATGCCTGATGTCAAGGG -3'
(R):5'- AAGTTGTATGTCTGAGGGAGTAATGAC -3'

Sequencing Primer
(F):5'- TGCCTGATGTCAAGGGATAGG -3'
(R):5'- TGCACAAAACCTGGGTTTGATCC -3'

Posted On

2014-09-17