Incidental Mutation 'R5412:Arid1a'
ID 427521
Institutional Source Beutler Lab
Gene Symbol Arid1a
Ensembl Gene ENSMUSG00000007880
Gene Name AT-rich interaction domain 1A
Synonyms Smarcf1, 1110030E03Rik, Osa1, BAF250a
MMRRC Submission 042981-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5412 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133406319-133484080 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 133446913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008024] [ENSMUST00000105897] [ENSMUST00000139709] [ENSMUST00000145664]
AlphaFold A2BH40
Predicted Effect unknown
Transcript: ENSMUST00000008024
AA Change: T235A
SMART Domains Protein: ENSMUSP00000008024
Gene: ENSMUSG00000007880
AA Change: T235A

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: T620A
SMART Domains Protein: ENSMUSP00000101517
Gene: ENSMUSG00000007880
AA Change: T620A

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 probably benign
Transcript: ENSMUST00000139709
SMART Domains Protein: ENSMUSP00000131950
Gene: ENSMUSG00000007880

DomainStartEndE-ValueType
low complexity region 17 42 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
low complexity region 113 140 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000145664
AA Change: T620A
SMART Domains Protein: ENSMUSP00000122354
Gene: ENSMUSG00000007880
AA Change: T620A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200408
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,886,036 (GRCm39) N36Y probably damaging Het
Ankfn1 T A 11: 89,396,007 (GRCm39) E246D probably benign Het
Bbs7 A T 3: 36,653,522 (GRCm39) D300E probably benign Het
C3 T C 17: 57,527,187 (GRCm39) D754G probably benign Het
Ccpg1 A T 9: 72,917,588 (GRCm39) Q240L probably damaging Het
Cdk13 G A 13: 17,941,115 (GRCm39) P650S probably damaging Het
Celsr2 G T 3: 108,307,311 (GRCm39) S1933Y probably damaging Het
Cep135 T A 5: 76,764,709 (GRCm39) H562Q probably benign Het
Cyp26a1 G T 19: 37,689,630 (GRCm39) C442F probably damaging Het
Dnah7a T C 1: 53,674,503 (GRCm39) S425G probably benign Het
Espn C T 4: 152,212,582 (GRCm39) V752M probably damaging Het
Glyr1 A G 16: 4,854,297 (GRCm39) S113P possibly damaging Het
Grk4 A T 5: 34,902,612 (GRCm39) Y388F probably benign Het
H2-T15 C T 17: 36,366,936 (GRCm39) C369Y probably benign Het
Heca C A 10: 17,778,044 (GRCm39) V518F probably damaging Het
Hmcn2 C T 2: 31,236,629 (GRCm39) P391S possibly damaging Het
Hnrnpl A G 7: 28,510,529 (GRCm39) probably benign Het
Hsd3b2 A G 3: 98,619,208 (GRCm39) S246P possibly damaging Het
Ifna11 C T 4: 88,738,380 (GRCm39) P62L probably damaging Het
Katnal2 A T 18: 77,090,131 (GRCm39) V292D probably damaging Het
Krt16 T A 11: 100,137,593 (GRCm39) I371F probably damaging Het
Ly6g2 A T 15: 75,089,669 (GRCm39) E59V probably damaging Het
Map10 A T 8: 126,397,724 (GRCm39) L372F probably damaging Het
Megf10 A T 18: 57,324,219 (GRCm39) M87L probably damaging Het
Ncoa6 T C 2: 155,249,701 (GRCm39) H1201R possibly damaging Het
Ndc80 C A 17: 71,821,226 (GRCm39) D241Y probably damaging Het
Ndufs1 T C 1: 63,205,508 (GRCm39) M94V possibly damaging Het
Nkx2-6 G T 14: 69,412,195 (GRCm39) R121L probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6a2 A G 7: 106,600,842 (GRCm39) V75A probably damaging Het
Otop1 A G 5: 38,455,328 (GRCm39) I241V probably benign Het
Panx2 C A 15: 88,953,135 (GRCm39) P542H possibly damaging Het
Pcdha5 C A 18: 37,095,510 (GRCm39) P673Q probably benign Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Prdx6 A T 1: 161,071,860 (GRCm39) I102N probably damaging Het
Prkd3 T A 17: 79,262,140 (GRCm39) I725F possibly damaging Het
Selenon T C 4: 134,269,749 (GRCm39) N395S probably benign Het
Serpinb8 G A 1: 107,533,616 (GRCm39) E224K probably benign Het
Serpinb9b A G 13: 33,213,496 (GRCm39) M18V probably benign Het
Smc6 A G 12: 11,335,400 (GRCm39) E318G possibly damaging Het
Srrt A T 5: 137,294,549 (GRCm39) Y786N probably damaging Het
Stk36 G T 1: 74,644,615 (GRCm39) probably null Het
Stpg1 T A 4: 135,252,786 (GRCm39) L179Q possibly damaging Het
Stra8 G A 6: 34,907,885 (GRCm39) M1I probably null Het
Tiam1 G T 16: 89,681,753 (GRCm39) H408Q possibly damaging Het
Tm2d1 G A 4: 98,253,855 (GRCm39) T106I probably damaging Het
Tmem150b A C 7: 4,719,368 (GRCm39) I184S probably null Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Vps13b G A 15: 35,533,531 (GRCm39) A868T probably damaging Het
Wdr81 C T 11: 75,341,620 (GRCm39) D1216N probably null Het
Zfp26 T C 9: 20,349,535 (GRCm39) Y343C possibly damaging Het
Zfp276 A T 8: 123,982,520 (GRCm39) I95F probably damaging Het
Zfp330 T C 8: 83,490,865 (GRCm39) E315G probably benign Het
Zfp683 C A 4: 133,781,862 (GRCm39) P56Q probably damaging Het
Zpld1 T A 16: 55,052,646 (GRCm39) S323C possibly damaging 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
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
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'- AGTGCCTCGAAAACAGACAG -3'
(R):5'- TCTCCAGTTGCAACCTGGTTAG -3'

Sequencing Primer
(F):5'- GCACAAACTTATCCCTGATAAACAG -3'
(R):5'- AGGCAGGGTTTCTGTGTAATCC -3'
Posted On 2016-09-01