Mutagenetix > Incidental Mutation

Incidental Mutation 'R3775:Arid1a'

273543

Institutional Source

Beutler Lab

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 #

R3775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133406319-133484080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133414075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1248 (S1248P)

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: S863P

SMART Domains

Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: S863P

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: S1249P

SMART Domains

Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: S1249P

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: S1248P

SMART Domains

Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: S1248P

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

0.0734

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,986,387 (GRCm39)	E2557G	possibly damaging	Het
C2cd3	T	C	7: 100,081,205 (GRCm39)	L1327S	probably damaging	Het
Ccnh	T	C	13: 85,354,243 (GRCm39)		probably benign	Het
Dcdc5	C	A	2: 106,202,738 (GRCm39)		noncoding transcript	Het
Eprs1	T	C	1: 185,105,205 (GRCm39)	F160S	probably damaging	Het
F9	A	G	X: 59,064,345 (GRCm39)	I190V	probably benign	Het
Fam185a	C	A	5: 21,660,804 (GRCm39)	A273D	probably damaging	Het
Fhod1	G	A	8: 106,058,270 (GRCm39)		probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Hipk2	T	C	6: 38,720,029 (GRCm39)	D534G	probably damaging	Het
Ints6l	T	C	X: 55,526,731 (GRCm39)	L220S	probably damaging	Het
Kat7	T	C	11: 95,182,357 (GRCm39)	T250A	probably benign	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mpp3	G	T	11: 101,914,193 (GRCm39)	S134*	probably null	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nlrp1b	T	C	11: 71,047,126 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,157,502 (GRCm39)	F271L	possibly damaging	Het
Nup160	G	T	2: 90,552,420 (GRCm39)	C1132F	probably benign	Het
Or13p3	C	T	4: 118,567,351 (GRCm39)	T249I	probably damaging	Het
Or1o2	T	A	17: 37,543,121 (GRCm39)	I47F	probably damaging	Het
Pcdhga5	A	G	18: 37,828,167 (GRCm39)	E205G	possibly damaging	Het
Pdgfc	A	G	3: 81,048,858 (GRCm39)	T89A	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Pgr15l	G	T	X: 96,120,747 (GRCm39)	R181M	probably damaging	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rnf112	A	T	11: 61,341,011 (GRCm39)		probably benign	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Slc25a19	A	G	11: 115,506,285 (GRCm39)	Y303H	probably damaging	Het
Sympk	T	C	7: 18,769,880 (GRCm39)	F186L	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn2r29	C	G	7: 7,243,011 (GRCm39)	D500H	probably damaging	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
IGL02150:Arid1a	APN	4	133,414,568 (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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGGTAGCAAGAGTTGG -3'
(R):5'- AGGGTATCACGCTAGGCAAAC -3'

Sequencing Primer
(F):5'- TAGCAAGAGTTGGGCAGGGC -3'
(R):5'- GGTATCACGCTAGGCAAACATCATC -3'

Posted On

2015-03-25