Mutagenetix > Incidental Mutations

Incidental Mutation 'R4551:Arid1a'

333944

Institutional Source

Beutler Lab

Gene Symbol

Arid1a

Ensembl Gene

ENSMUSG00000007880

Gene Name

AT rich interactive domain 1A (SWI-like)

Synonyms

1110030E03Rik, Smarcf1, BAF250a, Osa1

MMRRC Submission

041782-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4551 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

133679008-133756769 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 133695699 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008024] [ENSMUST00000105897] [ENSMUST00000145664]

Predicted Effect

probably benign
Transcript: ENSMUST00000008024

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880

Domain	Start	End	E-Value	Type
low complexity region	17	42	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
low complexity region	113	211	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	274	290	N/A	INTRINSIC
low complexity region	310	323	N/A	INTRINSIC
internal_repeat_3	329	402	4.13e-5	PROSPERO
low complexity region	410	426	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
internal_repeat_1	443	563	4.59e-6	PROSPERO
internal_repeat_2	461	595	1.38e-5	PROSPERO
low complexity region	604	626	N/A	INTRINSIC
ARID	630	720	3.56e-25	SMART
BRIGHT	634	725	3.76e-31	SMART
low complexity region	739	751	N/A	INTRINSIC
low complexity region	756	770	N/A	INTRINSIC
internal_repeat_3	778	872	4.13e-5	PROSPERO
internal_repeat_2	781	928	1.38e-5	PROSPERO
internal_repeat_1	825	940	4.59e-6	PROSPERO
low complexity region	962	987	N/A	INTRINSIC
low complexity region	1014	1045	N/A	INTRINSIC
low complexity region	1187	1200	N/A	INTRINSIC
low complexity region	1380	1404	N/A	INTRINSIC
low complexity region	1500	1518	N/A	INTRINSIC
Pfam:DUF3518	1592	1848	1.8e-146	PFAM
low complexity region	1849	1859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105897

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	24	52	N/A	INTRINSIC
low complexity region	74	96	N/A	INTRINSIC
low complexity region	118	148	N/A	INTRINSIC
low complexity region	161	169	N/A	INTRINSIC
low complexity region	233	266	N/A	INTRINSIC
low complexity region	273	295	N/A	INTRINSIC
low complexity region	308	332	N/A	INTRINSIC
low complexity region	367	373	N/A	INTRINSIC
low complexity region	402	427	N/A	INTRINSIC
low complexity region	471	495	N/A	INTRINSIC
low complexity region	498	596	N/A	INTRINSIC
low complexity region	611	622	N/A	INTRINSIC
low complexity region	659	675	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC
low complexity region	795	811	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
internal_repeat_2	828	948	9.26e-7	PROSPERO
internal_repeat_1	831	980	9.26e-7	PROSPERO
low complexity region	989	1011	N/A	INTRINSIC
ARID	1015	1105	3.56e-25	SMART
BRIGHT	1019	1110	3.76e-31	SMART
low complexity region	1124	1136	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
internal_repeat_1	1159	1314	9.26e-7	PROSPERO
internal_repeat_2	1211	1326	9.26e-7	PROSPERO
low complexity region	1343	1368	N/A	INTRINSIC
low complexity region	1395	1426	N/A	INTRINSIC
low complexity region	1568	1581	N/A	INTRINSIC
low complexity region	1761	1785	N/A	INTRINSIC
low complexity region	1881	1899	N/A	INTRINSIC
Pfam:DUF3518	1973	2229	1.4e-146	PFAM
low complexity region	2230	2240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138473

Predicted Effect

probably benign
Transcript: ENSMUST00000145664

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	24	52	N/A	INTRINSIC
low complexity region	74	96	N/A	INTRINSIC
low complexity region	118	148	N/A	INTRINSIC
low complexity region	161	169	N/A	INTRINSIC
low complexity region	233	266	N/A	INTRINSIC
low complexity region	273	295	N/A	INTRINSIC
low complexity region	308	332	N/A	INTRINSIC
low complexity region	367	373	N/A	INTRINSIC
low complexity region	402	427	N/A	INTRINSIC
low complexity region	471	495	N/A	INTRINSIC
low complexity region	498	596	N/A	INTRINSIC
low complexity region	611	622	N/A	INTRINSIC
low complexity region	659	675	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC
internal_repeat_3	714	787	9.49e-6	PROSPERO
low complexity region	795	811	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
internal_repeat_1	828	948	8.73e-7	PROSPERO
internal_repeat_2	846	980	2.88e-6	PROSPERO
low complexity region	989	1011	N/A	INTRINSIC
ARID	1015	1105	3.56e-25	SMART
BRIGHT	1019	1110	3.76e-31	SMART
low complexity region	1124	1136	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
internal_repeat_3	1163	1257	9.49e-6	PROSPERO
internal_repeat_2	1166	1313	2.88e-6	PROSPERO
internal_repeat_1	1210	1325	8.73e-7	PROSPERO
low complexity region	1347	1372	N/A	INTRINSIC
low complexity region	1399	1430	N/A	INTRINSIC
low complexity region	1572	1585	N/A	INTRINSIC
low complexity region	1765	1789	N/A	INTRINSIC
low complexity region	1885	1903	N/A	INTRINSIC
Pfam:DUF3518	1978	2233	1.3e-117	PFAM
low complexity region	2234	2244	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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 SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 120,011,569	E610A	probably benign	Het
Abhd17b	T	C	19: 21,680,926	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,748,012	Y427H	probably damaging	Het
Alox15	T	A	11: 70,344,596	I647L	probably benign	Het
Ankhd1	C	A	18: 36,655,507		probably null	Het
Armcx5	T	A	X: 135,746,507	V444D	probably damaging	Het
C4bp	A	G	1: 130,636,727	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,998,320	E96V	probably damaging	Het
Cox20	A	C	1: 178,322,549	N96T	probably benign	Het
Cpa3	T	C	3: 20,219,770	I351V	probably benign	Het
Cpd	C	T	11: 76,811,886	G552D	probably damaging	Het
Cyld	A	G	8: 88,707,134	K184E	possibly damaging	Het
Dab2	G	A	15: 6,435,294	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,522,584	D324E	probably damaging	Het
Dnah9	T	C	11: 65,841,366	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206	D275E	probably benign	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Farp2	T	A	1: 93,618,592	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,032,790	T198A	probably benign	Het
Grk2	C	T	19: 4,286,056	V402M	possibly damaging	Het
Gsap	A	T	5: 21,290,571	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,590,419		probably benign	Het
Hus1b	C	A	13: 30,947,076	S200I	probably damaging	Het
Hypk	A	G	2: 121,453,480		probably null	Het
Ikbke	T	C	1: 131,258,033		probably benign	Het
Kat6b	A	G	14: 21,661,448	E670G	probably damaging	Het
Kif26b	T	A	1: 178,884,035	I740N	probably damaging	Het
Lhx3	G	A	2: 26,201,190	P369L	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Micalcl	T	A	7: 112,381,916	S366T	possibly damaging	Het
Mroh9	A	T	1: 163,044,093	I607N	probably damaging	Het
Mybphl	T	C	3: 108,374,163	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,517,874	I187T	probably damaging	Het
Myo7b	T	C	18: 31,985,108	S822G	probably benign	Het
Nkx2-4	C	A	2: 147,084,922	A142S	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Odf4	C	T	11: 68,922,040	S264N	probably benign	Het
Olfr360	G	T	2: 37,068,343	V13L	probably benign	Het
Olfr45	A	T	7: 140,691,742	Y279F	probably damaging	Het
Olfr657	A	T	7: 104,636,424	H250L	probably damaging	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Parpbp	T	A	10: 88,093,702	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,479,834	F616L	probably damaging	Het
Pdk3	A	T	X: 93,782,240	M253K	probably damaging	Het
Pgap2	C	A	7: 102,226,467		probably benign	Het
Pkhd1l1	C	A	15: 44,550,885	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,067,225		probably benign	Het
Psma2	A	G	13: 14,616,845	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptpn5	C	A	7: 47,090,852		probably benign	Het
Pxn	G	T	5: 115,552,720		probably benign	Het
Scd3	C	A	19: 44,215,439	A22E	probably benign	Het
Sdr42e1	T	C	8: 117,663,608	E98G	probably benign	Het
Slc14a2	A	C	18: 78,195,853	S184A	probably benign	Het
Tmem236	A	T	2: 14,219,153	Q251L	probably benign	Het
Trappc8	T	C	18: 20,874,672	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,561,969	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,226,351	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,690,689	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,268,407	I288K	possibly damaging	Het
Zfp180	A	C	7: 24,104,573	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,009,639	V401A	probably benign	Het

Other mutations in Arid1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Arid1a	APN	4	133685482	missense	unknown
IGL01139:Arid1a	APN	4	133693997	missense	unknown
IGL01392:Arid1a	APN	4	133681037	missense	unknown
IGL01543:Arid1a	APN	4	133681722	missense	unknown
IGL01642:Arid1a	APN	4	133681844	missense	unknown
IGL01843:Arid1a	APN	4	133681454	missense	unknown
IGL02108:Arid1a	APN	4	133680516	missense	unknown
IGL02117:Arid1a	APN	4	133692815	missense	unknown
IGL02150:Arid1a	APN	4	133687257	missense	unknown
IGL02478:Arid1a	APN	4	133681274	missense	unknown
IGL02544:Arid1a	APN	4	133681748	missense	unknown
IGL03070:Arid1a	APN	4	133694753	missense	unknown
PIT4520001:Arid1a	UTSW	4	133681916	missense	unknown
R0023:Arid1a	UTSW	4	133691176	missense	unknown
R0023:Arid1a	UTSW	4	133691176	missense	unknown
R0419:Arid1a	UTSW	4	133681124	missense	unknown
R0452:Arid1a	UTSW	4	133689105	missense	unknown
R0631:Arid1a	UTSW	4	133689170	missense	unknown
R0648:Arid1a	UTSW	4	133685204	missense	unknown
R1004:Arid1a	UTSW	4	133687275	missense	unknown
R1225:Arid1a	UTSW	4	133687365	missense	unknown
R1229:Arid1a	UTSW	4	133691237	missense	unknown
R1435:Arid1a	UTSW	4	133680698	missense	unknown
R1480:Arid1a	UTSW	4	133680389	missense	unknown
R1491:Arid1a	UTSW	4	133720926	missense	unknown
R1674:Arid1a	UTSW	4	133689260	missense	unknown
R1909:Arid1a	UTSW	4	133693761	missense	unknown
R1960:Arid1a	UTSW	4	133753090	missense	possibly damaging	0.84
R2018:Arid1a	UTSW	4	133681834	missense	unknown
R2147:Arid1a	UTSW	4	133681366	missense	unknown
R2303:Arid1a	UTSW	4	133687251	missense	unknown
R2320:Arid1a	UTSW	4	133680529	missense	unknown
R3775:Arid1a	UTSW	4	133686764	missense	unknown
R3907:Arid1a	UTSW	4	133692912	splice site	probably benign
R4509:Arid1a	UTSW	4	133695699	intron	probably benign
R4510:Arid1a	UTSW	4	133695699	intron	probably benign
R4552:Arid1a	UTSW	4	133695699	intron	probably benign
R4606:Arid1a	UTSW	4	133687323	missense	unknown
R4745:Arid1a	UTSW	4	133753106	missense	probably benign	0.33
R4851:Arid1a	UTSW	4	133681361	missense	unknown
R4867:Arid1a	UTSW	4	133720857	missense	probably benign	0.01
R5203:Arid1a	UTSW	4	133682003	missense	unknown
R5227:Arid1a	UTSW	4	133680405	missense	unknown
R5294:Arid1a	UTSW	4	133691055	splice site	probably benign
R5299:Arid1a	UTSW	4	133687226	missense	unknown
R5412:Arid1a	UTSW	4	133719602	unclassified	probably benign
R5540:Arid1a	UTSW	4	133680454	missense	unknown
R5704:Arid1a	UTSW	4	133681739	missense	unknown
R5870:Arid1a	UTSW	4	133681076	missense	unknown
R6092:Arid1a	UTSW	4	133693852	missense	unknown
R6151:Arid1a	UTSW	4	133684976	missense	unknown
R6240:Arid1a	UTSW	4	133680686	missense	unknown
R6379:Arid1a	UTSW	4	133680927	missense	unknown
R6427:Arid1a	UTSW	4	133681524	missense	unknown
R6739:Arid1a	UTSW	4	133687626	missense	unknown
R7159:Arid1a	UTSW	4	133753568	missense	unknown
R7186:Arid1a	UTSW	4	133753233
R7354:Arid1a	UTSW	4	133693947	missense	unknown
R7408:Arid1a	UTSW	4	133681080	missense	unknown
R7452:Arid1a	UTSW	4	133753127	missense	possibly damaging	0.86
R7471:Arid1a	UTSW	4	133681044	missense	unknown
R7478:Arid1a	UTSW	4	133685171	missense	unknown
R7581:Arid1a	UTSW	4	133680351	missense	unknown
R7614:Arid1a	UTSW	4	133691155	missense	unknown
R7712:Arid1a	UTSW	4	133752611	missense	probably benign	0.14
R7734:Arid1a	UTSW	4	133681368	missense	unknown
RF012:Arid1a	UTSW	4	133752820	small deletion	probably benign
RF015:Arid1a	UTSW	4	133752831	small deletion	probably benign
X0064:Arid1a	UTSW	4	133689260	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTTGGCCCAGCATGTTTG -3'
(R):5'- CTTTGACTCGTGCCTGCATG -3'

Sequencing Primer
(F):5'- CATGTCACAATAGTGGTAGATTGG -3'
(R):5'- CATGGTTTTTCCCTTAGCATTTGAAG -3'

Posted On

2015-08-18