Incidental Mutation 'R0452:Arid1a'
ID 39664
Institutional Source Beutler Lab
Gene Symbol Arid1a
Ensembl Gene ENSMUSG00000007880
Gene Name AT-rich interaction domain 1A
Synonyms Smarcf1, 1110030E03Rik, Osa1, BAF250a
MMRRC Submission 038652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0452 (G1)
Quality Score 124
Status Validated
Chromosome 4
Chromosomal Location 133406319-133484080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133416416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1120 (A1120T)
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: A735T
SMART Domains Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: A735T

DomainStartEndE-ValueType
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: A1120T
SMART Domains Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: A1120T

DomainStartEndE-ValueType
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: A1120T
SMART Domains Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: A1120T

DomainStartEndE-ValueType
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 0.0732 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 99% (93/94)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik A G 8: 107,233,822 (GRCm39) probably benign Het
Acap3 C A 4: 155,986,785 (GRCm39) S347* probably null Het
Acvr1 G A 2: 58,390,507 (GRCm39) P19L probably benign Het
Add2 G T 6: 86,081,611 (GRCm39) E366* probably null Het
Ankrd28 C A 14: 31,470,695 (GRCm39) A153S probably damaging Het
Anxa8 A T 14: 33,816,727 (GRCm39) I206F probably damaging Het
Arhgef4 G A 1: 34,771,403 (GRCm39) E1237K probably damaging Het
Atad5 T C 11: 79,997,247 (GRCm39) V857A probably damaging Het
Atp2a3 T A 11: 72,868,058 (GRCm39) probably null Het
Atxn1l C T 8: 110,459,027 (GRCm39) V412I possibly damaging Het
Card11 A G 5: 140,866,125 (GRCm39) S923P probably benign Het
Cars1 C A 7: 143,146,362 (GRCm39) E21* probably null Het
Ccdc115 A G 1: 34,476,702 (GRCm39) probably benign Het
Ccnj T A 19: 40,833,508 (GRCm39) probably null Het
Cds2 C T 2: 132,140,399 (GRCm39) T182I probably damaging Het
Ceacam14 A G 7: 17,549,248 (GRCm39) H213R probably benign Het
Cfap44 A T 16: 44,252,308 (GRCm39) M806L probably benign Het
Chd8 A T 14: 52,452,044 (GRCm39) I1317K probably damaging Het
Cherp A T 8: 73,215,366 (GRCm39) probably benign Het
Creb5 C G 6: 53,581,527 (GRCm39) T30S possibly damaging Het
Csf2ra A G 19: 61,215,333 (GRCm39) M94T probably benign Het
Cyp2b19 A C 7: 26,466,187 (GRCm39) D330A probably benign Het
Ddost G A 4: 138,037,499 (GRCm39) V188M possibly damaging Het
Dnah7a A T 1: 53,644,978 (GRCm39) D1019E probably benign Het
Dtx1 A T 5: 120,833,057 (GRCm39) I127N possibly damaging Het
Dyrk2 T C 10: 118,704,668 (GRCm39) T3A possibly damaging Het
Elovl5 C T 9: 77,868,193 (GRCm39) T35M probably damaging Het
Emc7 T C 2: 112,297,314 (GRCm39) probably benign Het
Erp27 T C 6: 136,886,487 (GRCm39) Y182C probably damaging Het
Exoc2 T A 13: 31,070,310 (GRCm39) probably benign Het
F5 A C 1: 164,012,676 (GRCm39) D530A probably damaging Het
Fam149a A T 8: 45,808,686 (GRCm39) V149E probably damaging Het
Fbxo41 A G 6: 85,455,164 (GRCm39) S614P probably damaging Het
Fmn1 T A 2: 113,467,124 (GRCm39) Y1342N possibly damaging Het
Gpr22 T A 12: 31,758,793 (GRCm39) D443V possibly damaging Het
Il17rd T A 14: 26,813,888 (GRCm39) W56R probably damaging Het
Itga2b A T 11: 102,356,779 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,261 (GRCm39) M2514T probably benign Het
Klk1b9 T C 7: 43,443,675 (GRCm39) probably benign Het
Krr1 T C 10: 111,811,503 (GRCm39) Y66H probably damaging Het
Lamb2 T C 9: 108,363,553 (GRCm39) probably benign Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrp10 T C 14: 54,705,036 (GRCm39) V113A probably benign Het
Mgam A G 6: 40,736,024 (GRCm39) Y841C probably damaging Het
Nisch T A 14: 30,899,421 (GRCm39) probably benign Het
Nlrp4d G A 7: 10,112,219 (GRCm39) T650I probably benign Het
Or4f61 T A 2: 111,922,981 (GRCm39) K22* probably null Het
Or5p78 C T 7: 108,211,577 (GRCm39) T21I possibly damaging Het
Parp4 A G 14: 56,886,300 (GRCm39) D1793G unknown Het
Pcm1 A G 8: 41,778,942 (GRCm39) D1850G probably benign Het
Pgap2 G A 7: 101,885,669 (GRCm39) A145T probably damaging Het
Phc1 G A 6: 122,299,995 (GRCm39) A583V probably damaging Het
Plcd3 G A 11: 102,962,085 (GRCm39) probably benign Het
Ppm1m T A 9: 106,074,501 (GRCm39) Q214L probably damaging Het
Prkg2 A G 5: 99,145,379 (GRCm39) probably benign Het
Prss3l A G 6: 41,422,271 (GRCm39) Y45H probably benign Het
Rasal3 T C 17: 32,614,791 (GRCm39) probably benign Het
Rfc1 A T 5: 65,421,640 (GRCm39) D1086E probably benign Het
Rnf145 T A 11: 44,452,587 (GRCm39) L522H probably damaging Het
Setd2 T A 9: 110,382,168 (GRCm39) probably null Het
Sik1 C A 17: 32,068,055 (GRCm39) V377F possibly damaging Het
Slc44a4 T C 17: 35,147,071 (GRCm39) I367T possibly damaging Het
Slfn3 A G 11: 83,103,954 (GRCm39) D275G possibly damaging Het
Smarcad1 A T 6: 65,051,806 (GRCm39) N313I possibly damaging Het
Smc4 A T 3: 68,915,361 (GRCm39) K138* probably null Het
Smg6 T A 11: 74,821,039 (GRCm39) S437T probably benign Het
Spaca9 G T 2: 28,586,005 (GRCm39) Q20K probably damaging Het
Spatc1 T G 15: 76,152,493 (GRCm39) I41S probably damaging Het
Spink5 A T 18: 44,096,385 (GRCm39) T5S possibly damaging Het
St3gal1 C A 15: 66,981,504 (GRCm39) probably benign Het
Stat5a C A 11: 100,753,961 (GRCm39) T97K probably benign Het
Stat5b A T 11: 100,689,156 (GRCm39) I246N probably benign Het
Supt6 G T 11: 78,117,829 (GRCm39) D462E probably damaging Het
Swi5 A T 2: 32,171,836 (GRCm39) probably benign Het
Syne1 A T 10: 5,355,435 (GRCm39) V375E probably damaging Het
Tcp1 T C 17: 13,143,239 (GRCm39) F516S probably benign Het
Tdrd7 A T 4: 45,965,488 (GRCm39) probably benign Het
Tgfbr3 A T 5: 107,288,289 (GRCm39) N457K probably benign Het
Tmem209 A G 6: 30,487,380 (GRCm39) M500T probably damaging Het
Tmem44 C T 16: 30,336,281 (GRCm39) probably benign Het
Ttc21a T A 9: 119,768,220 (GRCm39) probably benign Het
Ttn A G 2: 76,701,454 (GRCm39) probably benign Het
Ttn T A 2: 76,666,347 (GRCm39) I88F possibly damaging Het
Ube2w T C 1: 16,672,479 (GRCm39) probably benign Het
Ufc1 C T 1: 171,117,527 (GRCm39) probably benign Het
Uhmk1 A G 1: 170,039,971 (GRCm39) M132T possibly damaging Het
Usp29 A G 7: 6,966,181 (GRCm39) N675D possibly damaging Het
Vmn1r23 A G 6: 57,903,469 (GRCm39) V103A possibly damaging Het
Wdr59 G T 8: 112,248,604 (GRCm39) R4S possibly damaging Het
Zc3hav1 T A 6: 38,284,372 (GRCm39) E914D probably benign Het
Other mutations in Arid1a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TAGTCTGCCAAACTGCCAAGCC -3'
(R):5'- GTTCAGCACCTGTGAACTGGAAGG -3'

Sequencing Primer
(F):5'- CGTGGATGGCTAAAAACACAC -3'
(R):5'- ACTGGAAGGCTGGGTCATC -3'
Posted On 2013-05-23