Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Arid1a'

210130

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

039928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133679008-133756769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133693761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 911 (N911S)

Ref Sequence

ENSEMBL: ENSMUSP00000122354 (fasta)

Gene Model

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

AlphaFold

A2BH40

Predicted Effect

unknown
Transcript: ENSMUST00000008024
AA Change: N526S

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: N526S

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

unknown
Transcript: ENSMUST00000105897
AA Change: N911S

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: N911S

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

unknown
Transcript: ENSMUST00000145664
AA Change: N911S

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: N911S

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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 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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,258,036	I59L	probably benign	Het
9530053A07Rik	T	C	7: 28,144,348	V887A	possibly damaging	Het
Aarsd1	A	C	11: 101,410,231		probably null	Het
Abcc5	A	G	16: 20,376,509		probably null	Het
Abcc6	T	C	7: 46,020,134		probably null	Het
Adam15	C	A	3: 89,345,330	M317I	probably benign	Het
Ago3	T	C	4: 126,346,737	T111A	probably damaging	Het
Amz1	G	T	5: 140,752,461	S492I	probably benign	Het
Arntl2	A	T	6: 146,810,810	E111V	probably benign	Het
Ascl2	C	A	7: 142,968,163	A115S	probably damaging	Het
Ash1l	T	C	3: 88,984,528	V1238A	probably benign	Het
Asxl2	G	T	12: 3,474,577	V202F	probably damaging	Het
Atp10a	A	T	7: 58,828,712	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,452,208	I374L	probably benign	Het
Bmx	T	C	X: 164,239,415	H157R	probably benign	Het
Camk4	T	A	18: 33,158,816		probably null	Het
Ccdc103	G	A	11: 102,882,566	D5N	probably benign	Het
Ccdc186	A	T	19: 56,793,361	N70K	probably damaging	Het
Cebpz	A	T	17: 78,934,907	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714	S122R	probably benign	Het
Cnst	T	C	1: 179,622,791	S607P	probably damaging	Het
Col8a2	C	A	4: 126,312,133	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,703,378		probably null	Het
Crim1	C	T	17: 78,313,127	T332I	probably benign	Het
Csmd1	A	T	8: 15,906,116	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,058	S998T	probably benign	Het
Dab2ip	C	G	2: 35,718,815	A587G	probably damaging	Het
Dach1	C	T	14: 97,901,393	G486D	probably damaging	Het
Ddx24	T	C	12: 103,409,982	I752V	probably damaging	Het
Dhx33	A	G	11: 70,989,107	V359A	probably benign	Het
Dip2c	A	T	13: 9,533,350	T123S	probably benign	Het
Dync1h1	G	A	12: 110,662,629	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,177,272	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,432,937	S462P	probably damaging	Het
Elmod2	G	C	8: 83,316,369	R277G	probably benign	Het
Epg5	T	A	18: 77,959,032	D555E	probably benign	Het
Ercc8	A	T	13: 108,175,566	K172*	probably null	Het
Fat3	T	C	9: 15,998,115	N2197S	probably benign	Het
Fbf1	A	G	11: 116,145,992	V972A	possibly damaging	Het
Fes	T	C	7: 80,386,861	R113G	probably damaging	Het
Fzd1	G	T	5: 4,757,481	H34N	probably benign	Het
Galnt17	T	A	5: 131,111,838	Y147F	probably benign	Het
Gdf6	T	C	4: 9,859,971	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm15448	A	T	7: 3,822,919	I317N	probably benign	Het
Gm2381	A	T	7: 42,819,928	H257Q	probably damaging	Het
Gm6904	A	T	14: 59,258,613	S17R	probably benign	Het
Gm9844	T	C	7: 24,862,306	I10T	possibly damaging	Het
Hivep1	A	T	13: 42,155,646	K454M	probably benign	Het
Hmmr	T	A	11: 40,708,098	E566D	probably damaging	Het
Hydin	T	G	8: 110,587,772	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,474,914	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,743,828	D667G	probably benign	Het
Lama3	T	C	18: 12,581,798	I3278T	probably benign	Het
Lrp4	T	A	2: 91,498,408	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839		probably benign	Het
Mga	T	A	2: 119,926,594	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,689,800	M666K	probably damaging	Het
Ndnf	T	G	6: 65,703,313	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,274,227	I594N	probably damaging	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Olfr60	T	C	7: 140,345,465	I175V	probably benign	Het
Olfr618	A	G	7: 103,597,343	N9S	probably benign	Het
Olfr635	G	A	7: 103,979,790	W199*	probably null	Het
Olfr698	T	C	7: 106,752,995	N131S	probably benign	Het
Paxbp1	T	C	16: 91,044,305		probably benign	Het
Pcdhb8	A	G	18: 37,355,962	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,433,461	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,250,239	V217A	probably benign	Het
Pirb	A	T	7: 3,714,588	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,997,288	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prkca	A	T	11: 107,939,612	D217E	possibly damaging	Het
Rac3	A	C	11: 120,723,337	I142L	probably benign	Het
Ralgapb	G	T	2: 158,444,675	A347S	probably damaging	Het
Rbm43	G	C	2: 51,925,434	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,668,423	V150E	probably benign	Het
Rsph10b	T	C	5: 143,985,491	F409L	probably benign	Het
Ryr2	A	T	13: 11,700,349	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,331,352	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,640,905	M786K	probably benign	Het
Sema4g	C	A	19: 44,997,622	R301S	probably damaging	Het
Senp6	A	T	9: 80,113,774	E245D	possibly damaging	Het
Setx	T	C	2: 29,163,009	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,400,142	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,209,400	N74D	probably damaging	Het
Slc28a1	T	A	7: 81,142,035	F316L	probably damaging	Het
Slfn8	G	A	11: 83,003,621	Q731*	probably null	Het
Slitrk4	A	G	X: 64,272,623	I146T	probably damaging	Het
Smg1	A	G	7: 118,154,199		probably benign	Het
Smg8	G	T	11: 87,080,613	Y777*	probably null	Het
Smyd1	T	A	6: 71,239,579	K61N	probably benign	Het
Sod2	T	C	17: 13,015,169	*223R	probably null	Het
Sp6	G	T	11: 97,021,508	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,702,695	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,563,917	D91G	probably damaging	Het
Spg7	A	G	8: 123,080,741	T419A	probably benign	Het
St5	G	A	7: 109,525,326	Q686*	probably null	Het
St8sia4	A	G	1: 95,627,573	I244T	probably damaging	Het
Tbl2	C	T	5: 135,152,991	R27W	probably damaging	Het
Tmed4	G	A	11: 6,274,694	P47L	probably damaging	Het
Tmtc1	T	C	6: 148,444,048	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,284,054		probably null	Het
Unc13d	A	G	11: 116,070,295	F412S	probably damaging	Het
Unc45b	A	C	11: 82,926,087	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,363,987	M687V	probably benign	Het
Vmn2r68	T	A	7: 85,234,052	H164L	probably benign	Het
Vps51	A	G	19: 6,069,469	V625A	probably benign	Het
Wapl	T	A	14: 34,691,912	W244R	probably damaging	Het
Wdr75	C	T	1: 45,823,403	T794I	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
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
R4551: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
R7878:Arid1a	UTSW	4	133687271	missense	unknown
R7973:Arid1a	UTSW	4	133753070	missense	probably damaging	0.96
R8012:Arid1a	UTSW	4	133692863	missense	unknown
R8355:Arid1a	UTSW	4	133720863	missense	unknown
R8396:Arid1a	UTSW	4	133752662	missense	probably damaging	0.99
R8708:Arid1a	UTSW	4	133681834	missense	unknown
R8923:Arid1a	UTSW	4	133684993	missense	unknown
R8997:Arid1a	UTSW	4	133694032	missense	unknown
R9003:Arid1a	UTSW	4	133684488	missense	unknown
R9145:Arid1a	UTSW	4	133693903	missense	unknown
R9224:Arid1a	UTSW	4	133681856	missense	unknown
R9310:Arid1a	UTSW	4	133686314	missense	unknown
R9470:Arid1a	UTSW	4	133685746	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
Z1176:Arid1a	UTSW	4	133720550	missense	probably null
Z1177:Arid1a	UTSW	4	133680916	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACCTAGCTTAAGTTCTGTACACAG -3'
(R):5'- AGCCTGGAATCCCACCTTAC -3'

Sequencing Primer
(F):5'- GCTTAAGTTCTGTACACAGGATAC -3'
(R):5'- TGGAATCCCACCTTACGGCAC -3'

Posted On

2014-06-30