Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:Arid1a'

281949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arid1a

Ensembl Gene

ENSMUSG00000007880

Gene Name

AT-rich interaction domain 1A

Synonyms

Smarcf1, 1110030E03Rik, Osa1, BAF250a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

133406319-133484080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133414568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1221 (M1221K)

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: M836K

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: M836K

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: M1222K

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: M1222K

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: M1221K

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: M1221K

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,420,001 (GRCm39)	G92S	probably damaging	Het
Arl10	G	A	13: 54,726,662 (GRCm39)	V147M	probably damaging	Het
Bbs4	T	C	9: 59,243,651 (GRCm39)	N152S	probably benign	Het
Cacna2d2	T	G	9: 107,404,515 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,340,582 (GRCm39)	E582G	probably benign	Het
Cct2	A	T	10: 116,898,004 (GRCm39)	L61Q	probably damaging	Het
Clip4	A	G	17: 72,106,071 (GRCm39)	I85V	probably damaging	Het
Daam2	A	T	17: 49,797,332 (GRCm39)	L151Q	possibly damaging	Het
Dlst	T	A	12: 85,177,807 (GRCm39)	I400N	possibly damaging	Het
Dock7	A	T	4: 98,968,089 (GRCm39)		probably benign	Het
Dynlrb2	A	G	8: 117,242,449 (GRCm39)	N93S	probably benign	Het
Efl1	A	G	7: 82,335,899 (GRCm39)	T407A	probably benign	Het
Emilin1	A	G	5: 31,077,517 (GRCm39)	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,413,049 (GRCm39)	S162A	probably benign	Het
Epas1	A	G	17: 87,112,717 (GRCm39)	D105G	probably damaging	Het
Fcgbpl1	T	A	7: 27,846,204 (GRCm39)	Y965*	probably null	Het
Gcn1	T	A	5: 115,747,927 (GRCm39)	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,633,140 (GRCm39)	D41A	probably damaging	Het
Gm7008	T	A	12: 40,273,257 (GRCm39)		probably benign	Het
Hcfc2	G	A	10: 82,545,852 (GRCm39)	S246N	probably damaging	Het
Hectd1	T	C	12: 51,815,974 (GRCm39)	N1366S	probably damaging	Het
Lgmn	T	C	12: 102,361,986 (GRCm39)	R372G	possibly damaging	Het
Map2k7	A	G	8: 4,293,818 (GRCm39)	M153V	possibly damaging	Het
Megf8	T	A	7: 25,045,842 (GRCm39)		probably null	Het
Mgat4c	A	C	10: 102,224,983 (GRCm39)	E399A	probably benign	Het
Myorg	A	G	4: 41,499,183 (GRCm39)	V149A	possibly damaging	Het
Nfat5	C	T	8: 108,094,584 (GRCm39)	Q942*	probably null	Het
Notch4	A	G	17: 34,803,587 (GRCm39)	E1502G	probably damaging	Het
Optn	A	C	2: 5,037,963 (GRCm39)	I410M	probably damaging	Het
Or6b9	G	T	7: 106,555,763 (GRCm39)	P127T	probably damaging	Het
Or8c17	A	T	9: 38,180,564 (GRCm39)	I252L	possibly damaging	Het
Ppp1ca	G	A	19: 4,244,698 (GRCm39)		probably benign	Het
Pramel5	C	A	4: 143,999,771 (GRCm39)	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502 (GRCm39)	N706K	probably damaging	Het
Rgs11	A	T	17: 26,421,968 (GRCm39)	T6S	probably benign	Het
Sbf1	T	C	15: 89,179,683 (GRCm39)	H1308R	probably benign	Het
Scart2	G	A	7: 139,877,772 (GRCm39)	G918D	possibly damaging	Het
Sec31a	T	C	5: 100,533,984 (GRCm39)		probably benign	Het
Sh2d5	G	A	4: 137,985,553 (GRCm39)	D334N	probably benign	Het
Skint5	T	A	4: 113,742,988 (GRCm39)	I360F	unknown	Het
Slc12a1	G	A	2: 125,026,735 (GRCm39)	D457N	probably damaging	Het
Slco2a1	C	T	9: 102,962,017 (GRCm39)	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,628,471 (GRCm39)	A95T	probably damaging	Het
Snx25	C	A	8: 46,569,318 (GRCm39)	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,638,565 (GRCm39)	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,082,073 (GRCm39)	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,190,557 (GRCm39)	W525R	probably damaging	Het
Trhde	A	T	10: 114,428,013 (GRCm39)	S428T	probably damaging	Het
Trp73	G	A	4: 154,165,943 (GRCm39)	A42V	possibly damaging	Het
Ttn	T	C	2: 76,679,316 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,306,465 (GRCm39)	L289*	probably null	Het
Vwa5b2	A	T	16: 20,423,576 (GRCm39)	Q1163L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het
Wdr70	T	G	15: 8,112,030 (GRCm39)	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,368,186 (GRCm39)	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,830,686 (GRCm39)	S440P	probably damaging	Het
Zfp518b	A	G	5: 38,831,132 (GRCm39)	V291A	probably damaging	Het
Zmym2	G	A	14: 57,148,526 (GRCm39)		probably benign	Het

Other mutations in Arid1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Arid1a	APN	4	133,412,793 (GRCm39)	missense	unknown
IGL01139:Arid1a	APN	4	133,421,308 (GRCm39)	missense	unknown
IGL01392:Arid1a	APN	4	133,408,348 (GRCm39)	missense	unknown
IGL01543:Arid1a	APN	4	133,409,033 (GRCm39)	missense	unknown
IGL01642:Arid1a	APN	4	133,409,155 (GRCm39)	missense	unknown
IGL01843:Arid1a	APN	4	133,408,765 (GRCm39)	missense	unknown
IGL02108:Arid1a	APN	4	133,407,827 (GRCm39)	missense	unknown
IGL02117:Arid1a	APN	4	133,420,126 (GRCm39)	missense	unknown
IGL02478:Arid1a	APN	4	133,408,585 (GRCm39)	missense	unknown
IGL02544:Arid1a	APN	4	133,409,059 (GRCm39)	missense	unknown
IGL03070:Arid1a	APN	4	133,422,064 (GRCm39)	missense	unknown
PIT4520001:Arid1a	UTSW	4	133,409,227 (GRCm39)	missense	unknown
R0023:Arid1a	UTSW	4	133,418,487 (GRCm39)	missense	unknown
R0023:Arid1a	UTSW	4	133,418,487 (GRCm39)	missense	unknown
R0419:Arid1a	UTSW	4	133,408,435 (GRCm39)	missense	unknown
R0452:Arid1a	UTSW	4	133,416,416 (GRCm39)	missense	unknown
R0631:Arid1a	UTSW	4	133,416,481 (GRCm39)	missense	unknown
R0648:Arid1a	UTSW	4	133,412,515 (GRCm39)	missense	unknown
R1004:Arid1a	UTSW	4	133,414,586 (GRCm39)	missense	unknown
R1225:Arid1a	UTSW	4	133,414,676 (GRCm39)	missense	unknown
R1229:Arid1a	UTSW	4	133,418,548 (GRCm39)	missense	unknown
R1435:Arid1a	UTSW	4	133,408,009 (GRCm39)	missense	unknown
R1480:Arid1a	UTSW	4	133,407,700 (GRCm39)	missense	unknown
R1491:Arid1a	UTSW	4	133,448,237 (GRCm39)	missense	unknown
R1674:Arid1a	UTSW	4	133,416,571 (GRCm39)	missense	unknown
R1909:Arid1a	UTSW	4	133,421,072 (GRCm39)	missense	unknown
R1960:Arid1a	UTSW	4	133,480,401 (GRCm39)	missense	possibly damaging	0.84
R2018:Arid1a	UTSW	4	133,409,145 (GRCm39)	missense	unknown
R2147:Arid1a	UTSW	4	133,408,677 (GRCm39)	missense	unknown
R2303:Arid1a	UTSW	4	133,414,562 (GRCm39)	missense	unknown
R2320:Arid1a	UTSW	4	133,407,840 (GRCm39)	missense	unknown
R3775:Arid1a	UTSW	4	133,414,075 (GRCm39)	missense	unknown
R3907:Arid1a	UTSW	4	133,420,223 (GRCm39)	splice site	probably benign
R4509:Arid1a	UTSW	4	133,423,010 (GRCm39)	intron	probably benign
R4510:Arid1a	UTSW	4	133,423,010 (GRCm39)	intron	probably benign
R4551:Arid1a	UTSW	4	133,423,010 (GRCm39)	intron	probably benign
R4552:Arid1a	UTSW	4	133,423,010 (GRCm39)	intron	probably benign
R4606:Arid1a	UTSW	4	133,414,634 (GRCm39)	missense	unknown
R4745:Arid1a	UTSW	4	133,480,417 (GRCm39)	missense	probably benign	0.33
R4851:Arid1a	UTSW	4	133,408,672 (GRCm39)	missense	unknown
R4867:Arid1a	UTSW	4	133,448,168 (GRCm39)	missense	probably benign	0.01
R5203:Arid1a	UTSW	4	133,409,314 (GRCm39)	missense	unknown
R5227:Arid1a	UTSW	4	133,407,716 (GRCm39)	missense	unknown
R5294:Arid1a	UTSW	4	133,418,366 (GRCm39)	splice site	probably benign
R5299:Arid1a	UTSW	4	133,414,537 (GRCm39)	missense	unknown
R5412:Arid1a	UTSW	4	133,446,913 (GRCm39)	unclassified	probably benign
R5540:Arid1a	UTSW	4	133,407,765 (GRCm39)	missense	unknown
R5704:Arid1a	UTSW	4	133,409,050 (GRCm39)	missense	unknown
R5870:Arid1a	UTSW	4	133,408,387 (GRCm39)	missense	unknown
R6092:Arid1a	UTSW	4	133,421,163 (GRCm39)	missense	unknown
R6151:Arid1a	UTSW	4	133,412,287 (GRCm39)	missense	unknown
R6240:Arid1a	UTSW	4	133,407,997 (GRCm39)	missense	unknown
R6379:Arid1a	UTSW	4	133,408,238 (GRCm39)	missense	unknown
R6427:Arid1a	UTSW	4	133,408,835 (GRCm39)	missense	unknown
R6739:Arid1a	UTSW	4	133,414,937 (GRCm39)	missense	unknown
R7159:Arid1a	UTSW	4	133,480,879 (GRCm39)	missense	unknown
R7186:Arid1a	UTSW	4	133,480,544 (GRCm39)
R7354:Arid1a	UTSW	4	133,421,258 (GRCm39)	missense	unknown
R7408:Arid1a	UTSW	4	133,408,391 (GRCm39)	missense	unknown
R7452:Arid1a	UTSW	4	133,480,438 (GRCm39)	missense	possibly damaging	0.86
R7471:Arid1a	UTSW	4	133,408,355 (GRCm39)	missense	unknown
R7478:Arid1a	UTSW	4	133,412,482 (GRCm39)	missense	unknown
R7581:Arid1a	UTSW	4	133,407,662 (GRCm39)	missense	unknown
R7614:Arid1a	UTSW	4	133,418,466 (GRCm39)	missense	unknown
R7712:Arid1a	UTSW	4	133,479,922 (GRCm39)	missense	probably benign	0.14
R7734:Arid1a	UTSW	4	133,408,679 (GRCm39)	missense	unknown
R7878:Arid1a	UTSW	4	133,414,582 (GRCm39)	missense	unknown
R7973:Arid1a	UTSW	4	133,480,381 (GRCm39)	missense	probably damaging	0.96
R8012:Arid1a	UTSW	4	133,420,174 (GRCm39)	missense	unknown
R8355:Arid1a	UTSW	4	133,448,174 (GRCm39)	missense	unknown
R8396:Arid1a	UTSW	4	133,479,973 (GRCm39)	missense	probably damaging	0.99
R8708:Arid1a	UTSW	4	133,409,145 (GRCm39)	missense	unknown
R8923:Arid1a	UTSW	4	133,412,304 (GRCm39)	missense	unknown
R8997:Arid1a	UTSW	4	133,421,343 (GRCm39)	missense	unknown
R9003:Arid1a	UTSW	4	133,411,799 (GRCm39)	missense	unknown
R9145:Arid1a	UTSW	4	133,421,214 (GRCm39)	missense	unknown
R9224:Arid1a	UTSW	4	133,409,167 (GRCm39)	missense	unknown
R9310:Arid1a	UTSW	4	133,413,625 (GRCm39)	missense	unknown
R9470:Arid1a	UTSW	4	133,413,057 (GRCm39)	missense	unknown
RF012:Arid1a	UTSW	4	133,480,131 (GRCm39)	small deletion	probably benign
RF015:Arid1a	UTSW	4	133,480,142 (GRCm39)	small deletion	probably benign
X0064:Arid1a	UTSW	4	133,416,571 (GRCm39)	missense	unknown
Z1176:Arid1a	UTSW	4	133,447,861 (GRCm39)	missense	probably null
Z1177:Arid1a	UTSW	4	133,408,227 (GRCm39)	missense	unknown

Posted On

2015-04-16