Incidental Mutation 'IGL02544:Arid1a'
ID 297745
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 # IGL02544
Quality Score
Status
Chromosome 4
Chromosomal Location 133406319-133484080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133409059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1816 (V1816A)
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: V1431A
SMART Domains Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: V1431A

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: V1812A
SMART Domains Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: V1812A

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 unknown
Transcript: ENSMUST00000145664
AA Change: V1816A
SMART Domains Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: V1816A

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A C 5: 77,049,961 (GRCm39) S12A probably benign Het
Abcb5 A T 12: 118,870,003 (GRCm39) probably benign Het
Acap3 G A 4: 155,976,867 (GRCm39) E6K possibly damaging Het
Ano3 A T 2: 110,488,594 (GRCm39) I946K possibly damaging Het
Cacna1c C T 6: 118,728,440 (GRCm39) G335R probably damaging Het
Ccnh C A 13: 85,350,460 (GRCm39) Y118* probably null Het
Cep76 C T 18: 67,768,020 (GRCm39) probably benign Het
Cyp2c65 T C 19: 39,079,082 (GRCm39) V387A probably damaging Het
Dapk1 T G 13: 60,899,031 (GRCm39) S834A probably benign Het
Ddx39a T C 8: 84,449,402 (GRCm39) S367P probably benign Het
Dicer1 A G 12: 104,681,091 (GRCm39) I474T probably damaging Het
Dnah10 G A 5: 124,876,069 (GRCm39) R2579H probably benign Het
Dnajc16 T C 4: 141,491,958 (GRCm39) N622D probably damaging Het
Eif3c G T 7: 126,146,784 (GRCm39) S799* probably null Het
Fbxo9 A G 9: 77,994,541 (GRCm39) Y259H probably damaging Het
Fpr-rs4 A T 17: 18,242,473 (GRCm39) H160L probably benign Het
Galc A T 12: 98,197,701 (GRCm39) V336D probably benign Het
Matcap1 C T 8: 106,010,092 (GRCm39) V286M probably benign Het
Mfrp T C 9: 44,014,091 (GRCm39) L153P probably damaging Het
Mtx1 C A 3: 89,117,703 (GRCm39) W30L probably damaging Het
Mysm1 A T 4: 94,840,543 (GRCm39) D624E probably damaging Het
Naa16 A G 14: 79,573,260 (GRCm39) F837L probably damaging Het
Or10ag56 C T 2: 87,139,471 (GRCm39) R113C possibly damaging Het
Or1j17 A G 2: 36,578,848 (GRCm39) Y278C probably damaging Het
Or2ag1 T C 7: 106,313,742 (GRCm39) I49V probably benign Het
Or5h25 A T 16: 58,930,507 (GRCm39) H155Q probably damaging Het
Pde4d G T 13: 109,877,057 (GRCm39) D137Y probably damaging Het
Pik3r1 G T 13: 101,823,784 (GRCm39) R534S probably damaging Het
Pira12 T A 7: 3,900,185 (GRCm39) Y139F probably damaging Het
Plekha5 A C 6: 140,535,454 (GRCm39) E239A possibly damaging Het
Psap G T 10: 60,136,405 (GRCm39) probably benign Het
Rap2b T C 3: 61,272,560 (GRCm39) F28S probably damaging Het
Rfc5 A T 5: 117,524,931 (GRCm39) probably benign Het
Ryr1 C T 7: 28,815,024 (GRCm39) D175N probably benign Het
Sbno1 T G 5: 124,542,046 (GRCm39) I370L probably damaging Het
Slc17a6 T A 7: 51,315,903 (GRCm39) C390* probably null Het
Srsf7 A T 17: 80,511,620 (GRCm39) probably benign Het
Tbc1d10c C T 19: 4,237,959 (GRCm39) D272N probably benign Het
Tll2 A G 19: 41,124,404 (GRCm39) F204L probably damaging Het
Tmc1 T A 19: 20,884,327 (GRCm39) T38S probably benign Het
Tmem184b A T 15: 79,250,007 (GRCm39) I256K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trip11 G A 12: 101,859,780 (GRCm39) R365W probably damaging Het
Ubr4 C T 4: 139,142,429 (GRCm39) P1339S probably damaging Het
Vmn2r83 T A 10: 79,317,293 (GRCm39) 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
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