Mutagenetix > Incidental Mutation

Incidental Mutation 'R7581:Arid1a'

586732

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7581 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133679008-133756769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133680351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1897 (F1897I)

Ref Sequence

ENSEMBL: ENSMUSP00000008024 (fasta)

Gene Model

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

AlphaFold

A2BH40

Predicted Effect

unknown
Transcript: ENSMUST00000008024
AA Change: F1897I

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: F1897I

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: F2278I

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: F2278I

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

unknown
Transcript: ENSMUST00000145664
AA Change: F2282I

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: F2282I

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

0.8275

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	G	A	5: 109,690,788		probably benign	Het
Adamts9	A	C	6: 92,937,338	D196E	probably benign	Het
Adnp	A	T	2: 168,183,466	D636E	probably damaging	Het
Afdn	T	C	17: 13,849,238	V723A	probably damaging	Het
Atp6v0b	T	C	4: 117,885,286	M137V	probably benign	Het
Bicd1	T	A	6: 149,519,004	I784N	probably damaging	Het
Cckbr	A	G	7: 105,433,786	T119A	probably benign	Het
Creb5	T	C	6: 53,681,237	L184P	probably damaging	Het
Cyp2a22	T	G	7: 26,938,148	K141Q	possibly damaging	Het
D16Ertd472e	T	C	16: 78,546,557	T219A	possibly damaging	Het
Ep400	A	T	5: 110,756,025	L236Q	unknown	Het
Exph5	A	G	9: 53,372,557	S313G	possibly damaging	Het
Gm10024	T	C	10: 77,711,563	V36A	unknown	Het
Gm5493	A	G	17: 22,747,274	E44G	probably damaging	Het
Gtdc1	A	T	2: 44,790,005		probably null	Het
Invs	T	C	4: 48,421,909	V847A	probably benign	Het
Kif18b	C	A	11: 102,914,722	Q236H	probably damaging	Het
Kntc1	A	G	5: 123,816,755	T2079A	probably benign	Het
Large2	A	G	2: 92,370,193	S89P	probably damaging	Het
Maml3	A	C	3: 51,856,768	D258E	probably benign	Het
Mdga2	A	T	12: 66,506,255	M868K	probably damaging	Het
Mtss1l	A	G	8: 110,726,213	E30G	possibly damaging	Het
Muc16	T	C	9: 18,645,614	I3128V	unknown	Het
Mug2	C	T	6: 122,063,711	T740I	probably damaging	Het
Noc2l	T	C	4: 156,245,449	V612A	probably benign	Het
Olfr420	G	A	1: 174,158,771		probably null	Het
Olfr979	A	T	9: 40,000,422	D268E	probably damaging	Het
Padi6	T	C	4: 140,728,929	T585A	probably benign	Het
Pcdhga1	A	T	18: 37,662,177	N78I	probably damaging	Het
Pdgfd	A	G	9: 6,293,894	Y156C	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452		probably benign	Het
Pi4ka	C	T	16: 17,301,060	V1307I		Het
Pip5k1c	A	G	10: 81,308,960	N212D	probably damaging	Het
Plekha1	A	G	7: 130,910,865	T264A	probably benign	Het
Polr2b	A	G	5: 77,326,704	R463G	probably damaging	Het
Psd2	T	G	18: 35,979,997	D248E	probably benign	Het
Rag1	G	T	2: 101,643,304	Q498K	possibly damaging	Het
Ryr3	A	G	2: 112,753,027	I2853T	probably damaging	Het
Selenow	G	T	7: 15,922,382		probably null	Het
Sned1	C	T	1: 93,256,545	S165F	probably benign	Het
Spata31d1a	A	G	13: 59,704,139		probably null	Het
Taar4	C	A	10: 23,961,154	H221N	probably damaging	Het
Tgm6	A	T	2: 130,141,285	R265W	probably damaging	Het
Trpm1	A	T	7: 64,204,555	Q275L	probably benign	Het
Ulk3	T	C	9: 57,592,042	L173P	probably damaging	Het
Urah	A	T	7: 140,835,627	T3S	probably benign	Het
Vmn1r149	A	T	7: 22,437,904	V109D	probably damaging	Het
Xpc	A	T	6: 91,498,017		probably benign	Het
Zglp1	T	A	9: 21,062,708	K227N	probably damaging	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
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
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'- TCAAATAGGGTGGGGTCCTG -3'
(R):5'- TTGAACCAACTAGTGTGGACATG -3'

Sequencing Primer
(F):5'- TGGGGTCCTGAGGGAAGC -3'
(R):5'- CCAACTAGTGTGGACATGATGCG -3'

Posted On

2019-10-24