Mutagenetix > Incidental Mutations

Incidental Mutation 'R0631:Arid1a'

57931

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

038820-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133679008-133756769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133689170 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1098 (I1098T)

Ref Sequence

ENSEMBL: ENSMUSP00000122354 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000008024
AA Change: I713T

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: I713T

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: I1098T

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: I1098T

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: I1098T

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: I1098T

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

0.3940

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445		probably benign	Het
Afap1l2	T	C	19: 56,916,085	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801		probably null	Het
Arhgef2	G	C	3: 88,634,436	V244L	probably damaging	Het
Atr	T	C	9: 95,874,777	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489		probably benign	Het
B3gnt6	C	A	7: 98,193,692	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088		probably null	Het
Cd177	T	C	7: 24,756,686	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777		probably benign	Het
Depdc7	T	C	2: 104,721,987	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009		probably benign	Het
Exoc3l4	A	G	12: 111,427,966	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239		probably benign	Het
Frem1	A	G	4: 82,972,165	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274		probably null	Het
Ints2	T	C	11: 86,233,196	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,509,784		probably benign	Het
Kif11	A	G	19: 37,413,117		probably benign	Het
Kif13a	A	G	13: 46,778,888		probably benign	Het
Kif18a	T	A	2: 109,298,322		probably benign	Het
Klhl29	T	C	12: 5,094,883	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412		probably benign	Het
Lmntd1	T	A	6: 145,430,000	I71F	probably benign	Het
Lrit3	A	C	3: 129,788,555	C594W	probably damaging	Het
Lrp6	T	A	6: 134,479,775	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119		probably benign	Het
Macf1	A	T	4: 123,455,524	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474		probably benign	Het
Mgat4b	T	C	11: 50,230,763	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359		probably benign	Het
Nedd4l	A	T	18: 65,208,503		probably benign	Het
Neil2	T	A	14: 63,183,400	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,590,115	D26V	probably benign	Het
Nt5c	A	G	11: 115,490,714		probably null	Het
Olfr1095	T	C	2: 86,850,967	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537	V409I	probably benign	Het
Ptk2b	T	C	14: 66,177,751	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123		probably benign	Het
Sgsm3	A	T	15: 81,011,736	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984		probably benign	Het
Snapc3	T	A	4: 83,417,802	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296		probably null	Het
Tuba3b	A	G	6: 145,619,576	T257A	probably damaging	Het
Tubgcp6	A	C	15: 89,100,987	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,671,573		probably benign	Het
Unc13b	A	G	4: 43,182,849	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270	S514C	probably null	Het
Whrn	G	A	4: 63,419,489	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874		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
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
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
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'- TAGTCTGCCAAACTGCCAAGCC -3'
(R):5'- GTTCAGCACCTGTGAACTGGAAGG -3'

Sequencing Primer
(F):5'- CAGTACCTAAGGAAGTGTGCTCTC -3'
(R):5'- ACTGGAAGGCTGGGTCATC -3'

Posted On

2013-07-11