Incidental Mutation 'R9548:Arid1b'
ID 720274
Institutional Source Beutler Lab
Gene Symbol Arid1b
Ensembl Gene ENSMUSG00000069729
Gene Name AT-rich interaction domain 1B
Synonyms 9330189K18Rik, B230217J03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # R9548 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 5044607-5397931 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5385262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1340 (Y1340C)
Ref Sequence ENSEMBL: ENSMUSP00000090398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092723] [ENSMUST00000115797] [ENSMUST00000115799] [ENSMUST00000232180]
AlphaFold E9Q4N7
Predicted Effect probably damaging
Transcript: ENSMUST00000092723
AA Change: Y1340C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090398
Gene: ENSMUSG00000069729
AA Change: Y1340C

DomainStartEndE-ValueType
low complexity region 2 51 N/A INTRINSIC
low complexity region 69 132 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 201 224 N/A INTRINSIC
low complexity region 232 247 N/A INTRINSIC
low complexity region 257 276 N/A INTRINSIC
low complexity region 301 371 N/A INTRINSIC
low complexity region 379 407 N/A INTRINSIC
low complexity region 438 476 N/A INTRINSIC
low complexity region 485 499 N/A INTRINSIC
low complexity region 538 558 N/A INTRINSIC
low complexity region 574 591 N/A INTRINSIC
low complexity region 596 611 N/A INTRINSIC
low complexity region 615 640 N/A INTRINSIC
low complexity region 691 707 N/A INTRINSIC
low complexity region 719 740 N/A INTRINSIC
low complexity region 743 773 N/A INTRINSIC
low complexity region 805 816 N/A INTRINSIC
low complexity region 912 930 N/A INTRINSIC
low complexity region 936 952 N/A INTRINSIC
low complexity region 974 985 N/A INTRINSIC
low complexity region 1036 1045 N/A INTRINSIC
ARID 1057 1147 9.9e-33 SMART
BRIGHT 1061 1152 7.62e-41 SMART
low complexity region 1166 1177 N/A INTRINSIC
low complexity region 1257 1268 N/A INTRINSIC
low complexity region 1336 1364 N/A INTRINSIC
low complexity region 1426 1456 N/A INTRINSIC
low complexity region 1473 1486 N/A INTRINSIC
low complexity region 1579 1595 N/A INTRINSIC
coiled coil region 1724 1745 N/A INTRINSIC
low complexity region 1835 1843 N/A INTRINSIC
Pfam:DUF3518 1933 2189 1.5e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115797
AA Change: Y1341C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111463
Gene: ENSMUSG00000069729
AA Change: Y1341C

DomainStartEndE-ValueType
low complexity region 17 80 N/A INTRINSIC
low complexity region 87 98 N/A INTRINSIC
low complexity region 149 172 N/A INTRINSIC
low complexity region 180 195 N/A INTRINSIC
low complexity region 205 224 N/A INTRINSIC
low complexity region 249 319 N/A INTRINSIC
low complexity region 327 355 N/A INTRINSIC
low complexity region 386 424 N/A INTRINSIC
low complexity region 433 447 N/A INTRINSIC
low complexity region 486 506 N/A INTRINSIC
low complexity region 522 539 N/A INTRINSIC
low complexity region 544 559 N/A INTRINSIC
low complexity region 563 588 N/A INTRINSIC
low complexity region 639 655 N/A INTRINSIC
low complexity region 667 688 N/A INTRINSIC
low complexity region 691 721 N/A INTRINSIC
low complexity region 753 764 N/A INTRINSIC
low complexity region 860 878 N/A INTRINSIC
low complexity region 884 900 N/A INTRINSIC
low complexity region 922 933 N/A INTRINSIC
Blast:ARID 981 1028 1e-8 BLAST
low complexity region 1029 1054 N/A INTRINSIC
ARID 1058 1148 9.9e-33 SMART
BRIGHT 1062 1153 7.62e-41 SMART
low complexity region 1167 1178 N/A INTRINSIC
low complexity region 1258 1269 N/A INTRINSIC
low complexity region 1337 1365 N/A INTRINSIC
low complexity region 1427 1457 N/A INTRINSIC
low complexity region 1474 1487 N/A INTRINSIC
low complexity region 1580 1596 N/A INTRINSIC
coiled coil region 1725 1746 N/A INTRINSIC
low complexity region 1836 1844 N/A INTRINSIC
Pfam:DUF3518 1935 2190 6.3e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115799
AA Change: Y859C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111465
Gene: ENSMUSG00000069729
AA Change: Y859C

DomainStartEndE-ValueType
low complexity region 34 54 N/A INTRINSIC
low complexity region 70 87 N/A INTRINSIC
low complexity region 92 107 N/A INTRINSIC
low complexity region 111 136 N/A INTRINSIC
low complexity region 187 203 N/A INTRINSIC
low complexity region 215 236 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
low complexity region 402 418 N/A INTRINSIC
low complexity region 440 451 N/A INTRINSIC
Blast:ARID 499 546 1e-8 BLAST
low complexity region 547 572 N/A INTRINSIC
ARID 576 666 9.9e-33 SMART
BRIGHT 580 671 7.62e-41 SMART
low complexity region 685 696 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 855 883 N/A INTRINSIC
low complexity region 945 975 N/A INTRINSIC
low complexity region 992 1005 N/A INTRINSIC
low complexity region 1098 1114 N/A INTRINSIC
coiled coil region 1243 1264 N/A INTRINSIC
low complexity region 1354 1362 N/A INTRINSIC
Pfam:DUF3518 1452 1708 1.1e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000232180
AA Change: Y1393C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Allele List at MGI

All alleles(61) : Targeted(2) Gene trapped(59)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfy1 G A 11: 72,641,005 (GRCm39) probably null Het
Bcl2 C A 1: 106,640,508 (GRCm39) A35S probably benign Het
Brf2 A T 8: 27,614,623 (GRCm39) S188T probably benign Het
Carmil1 C A 13: 24,460,516 (GRCm39) G21V probably damaging Het
Cavin4 T C 4: 48,663,956 (GRCm39) V112A probably benign Het
Cd300lf T C 11: 115,007,858 (GRCm39) E319G probably benign Het
Cd44 A T 2: 102,661,832 (GRCm39) D587E possibly damaging Het
Cfap53 A T 18: 74,438,040 (GRCm39) T239S possibly damaging Het
Cma2 A C 14: 56,211,256 (GRCm39) I239L probably damaging Het
Cnot1 A T 8: 96,482,854 (GRCm39) M733K probably benign Het
Cyp2f2 A G 7: 26,829,170 (GRCm39) D225G probably benign Het
Cyp4f40 G A 17: 32,890,158 (GRCm39) R276H probably benign Het
Cytip A T 2: 58,041,141 (GRCm39) F88L probably damaging Het
Dnaaf2 T C 12: 69,244,776 (GRCm39) N95S probably damaging Het
Dnah5 C A 15: 28,328,025 (GRCm39) T2133K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Elapor2 G A 5: 9,490,859 (GRCm39) G623D probably damaging Het
Epn2 A T 11: 61,436,988 (GRCm39) S195T probably benign Het
Exoc3 A T 13: 74,330,285 (GRCm39) Y521N possibly damaging Het
Fbxo10 C A 4: 45,058,970 (GRCm39) V256L probably damaging Het
Fis1 A T 5: 136,991,907 (GRCm39) T34S probably benign Het
Gm10309 A T 17: 86,806,161 (GRCm39) C118S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hook1 T A 4: 95,891,808 (GRCm39) V340E probably damaging Het
Ifng C A 10: 118,277,128 (GRCm39) H23Q probably benign Het
Lect2 C T 13: 56,694,660 (GRCm39) E32K probably benign Het
Lrp1 T G 10: 127,388,733 (GRCm39) T3239P probably damaging Het
Lrrc14b T A 13: 74,511,996 (GRCm39) Y28F probably benign Het
Maml3 A T 3: 51,763,791 (GRCm39) V391E possibly damaging Het
Map3k8 C T 18: 4,349,141 (GRCm39) R59H probably benign Het
Med1 G T 11: 98,070,884 (GRCm39) L120I possibly damaging Het
Muc5b C A 7: 141,421,648 (GRCm39) H4349N possibly damaging Het
Myo1h C T 5: 114,499,154 (GRCm39) P110S probably benign Het
Nol10 T G 12: 17,466,144 (GRCm39) I513S possibly damaging Het
Nphs1 C T 7: 30,180,875 (GRCm39) S1093F probably benign Het
Or12e10 A T 2: 87,641,097 (GRCm39) N311I probably damaging Het
Or4b1b T C 2: 90,111,991 (GRCm39) *309W probably null Het
Or56b1b A T 7: 108,164,334 (GRCm39) S223T possibly damaging Het
Or5p72 A T 7: 108,022,416 (GRCm39) T213S possibly damaging Het
Or5w8 A T 2: 87,688,040 (GRCm39) I174F probably damaging Het
Pcdh17 A T 14: 84,685,402 (GRCm39) Y623F possibly damaging Het
Pdzd8 T A 19: 59,289,826 (GRCm39) I525F probably benign Het
Peak1 G T 9: 56,113,917 (GRCm39) Q1675K probably benign Het
Perm1 T C 4: 156,302,290 (GRCm39) V278A probably benign Het
Ppp2r5d G A 17: 46,998,527 (GRCm39) R115C probably damaging Het
Rnf169 A T 7: 99,574,690 (GRCm39) L635Q probably damaging Het
Sacs A G 14: 61,440,692 (GRCm39) T913A probably benign Het
Sh3bp1 A T 15: 78,788,673 (GRCm39) I233F possibly damaging Het
Skint9 T G 4: 112,276,346 (GRCm39) L8F probably benign Het
Slc1a4 A T 11: 20,258,041 (GRCm39) N360K probably damaging Het
Slc22a16 T A 10: 40,460,865 (GRCm39) Y243* probably null Het
Slc22a19 C A 19: 7,659,219 (GRCm39) probably null Het
Smarcal1 T C 1: 72,671,999 (GRCm39) I840T possibly damaging Het
Spata13 A G 14: 60,991,303 (GRCm39) K1019E possibly damaging Het
Steap1 A G 5: 5,790,700 (GRCm39) S83P possibly damaging Het
Synj2bp T C 12: 81,551,382 (GRCm39) H78R probably damaging Het
Tcstv7a T A 13: 120,289,924 (GRCm39) I91F probably benign Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Top3a A G 11: 60,644,768 (GRCm39) V312A probably benign Het
Traip C A 9: 107,833,099 (GRCm39) T45N probably damaging Het
Ttn T C 2: 76,573,691 (GRCm39) Y25734C probably damaging Het
Unc79 T A 12: 102,977,495 (GRCm39) V166D probably damaging Het
Urgcp C A 11: 5,667,622 (GRCm39) V282F possibly damaging Het
Vmn1r184 G A 7: 25,966,734 (GRCm39) S160N probably benign Het
Wdfy3 T C 5: 102,033,059 (GRCm39) D2231G probably damaging Het
Zan C T 5: 137,401,323 (GRCm39) G4132D unknown Het
Other mutations in Arid1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Arid1b APN 17 5,387,385 (GRCm39) missense possibly damaging 0.77
IGL00340:Arid1b APN 17 5,371,559 (GRCm39) missense probably damaging 1.00
IGL00886:Arid1b APN 17 5,177,254 (GRCm39) missense probably damaging 0.99
IGL01161:Arid1b APN 17 5,392,674 (GRCm39) missense probably damaging 1.00
IGL01391:Arid1b APN 17 5,369,133 (GRCm39) splice site probably benign
IGL01456:Arid1b APN 17 5,341,510 (GRCm39) missense probably damaging 1.00
IGL02152:Arid1b APN 17 5,364,243 (GRCm39) missense probably damaging 1.00
IGL02288:Arid1b APN 17 5,314,315 (GRCm39) missense possibly damaging 0.88
IGL02713:Arid1b APN 17 5,393,286 (GRCm39) missense probably damaging 1.00
IGL02858:Arid1b APN 17 5,392,166 (GRCm39) missense possibly damaging 0.92
IGL02885:Arid1b APN 17 5,392,428 (GRCm39) missense probably damaging 1.00
IGL02989:Arid1b APN 17 5,385,322 (GRCm39) missense probably damaging 1.00
FR4449:Arid1b UTSW 17 5,045,864 (GRCm39) small insertion probably benign
PIT4142001:Arid1b UTSW 17 5,389,518 (GRCm39) missense probably damaging 1.00
R0048:Arid1b UTSW 17 5,364,309 (GRCm39) critical splice donor site probably null
R0124:Arid1b UTSW 17 5,389,605 (GRCm39) missense probably damaging 1.00
R0153:Arid1b UTSW 17 5,393,207 (GRCm39) missense probably damaging 1.00
R0465:Arid1b UTSW 17 5,046,535 (GRCm39) missense possibly damaging 0.68
R0825:Arid1b UTSW 17 5,392,453 (GRCm39) missense probably damaging 1.00
R1172:Arid1b UTSW 17 5,389,575 (GRCm39) missense probably damaging 1.00
R1468:Arid1b UTSW 17 5,293,197 (GRCm39) missense probably damaging 0.99
R1468:Arid1b UTSW 17 5,293,197 (GRCm39) missense probably damaging 0.99
R1616:Arid1b UTSW 17 5,389,569 (GRCm39) missense probably damaging 1.00
R1754:Arid1b UTSW 17 5,329,476 (GRCm39) critical splice acceptor site probably null
R1760:Arid1b UTSW 17 5,392,088 (GRCm39) missense probably damaging 0.97
R1812:Arid1b UTSW 17 5,387,304 (GRCm39) missense probably benign 0.10
R1911:Arid1b UTSW 17 5,393,241 (GRCm39) missense probably damaging 1.00
R3874:Arid1b UTSW 17 5,386,790 (GRCm39) splice site probably null
R3913:Arid1b UTSW 17 5,392,532 (GRCm39) missense possibly damaging 0.94
R3916:Arid1b UTSW 17 5,392,928 (GRCm39) missense probably benign 0.25
R3922:Arid1b UTSW 17 5,393,316 (GRCm39) missense probably damaging 0.97
R4119:Arid1b UTSW 17 5,046,069 (GRCm39) unclassified probably benign
R4290:Arid1b UTSW 17 5,090,938 (GRCm39) missense probably damaging 1.00
R4291:Arid1b UTSW 17 5,090,938 (GRCm39) missense probably damaging 1.00
R4352:Arid1b UTSW 17 5,147,859 (GRCm39) missense possibly damaging 0.93
R4386:Arid1b UTSW 17 5,045,247 (GRCm39) unclassified probably benign
R4458:Arid1b UTSW 17 5,293,191 (GRCm39) missense probably damaging 0.99
R4524:Arid1b UTSW 17 5,147,895 (GRCm39) missense possibly damaging 0.93
R4622:Arid1b UTSW 17 5,045,325 (GRCm39) unclassified probably benign
R4723:Arid1b UTSW 17 5,387,565 (GRCm39) missense probably benign 0.01
R4782:Arid1b UTSW 17 5,389,496 (GRCm39) missense probably damaging 1.00
R4799:Arid1b UTSW 17 5,389,496 (GRCm39) missense probably damaging 1.00
R4910:Arid1b UTSW 17 5,392,478 (GRCm39) missense probably damaging 1.00
R4946:Arid1b UTSW 17 5,393,118 (GRCm39) missense probably damaging 0.99
R5083:Arid1b UTSW 17 5,364,293 (GRCm39) missense possibly damaging 0.54
R5204:Arid1b UTSW 17 5,393,316 (GRCm39) missense probably damaging 0.97
R5347:Arid1b UTSW 17 5,341,332 (GRCm39) nonsense probably null
R5553:Arid1b UTSW 17 5,364,152 (GRCm39) missense probably damaging 1.00
R5713:Arid1b UTSW 17 5,387,091 (GRCm39) missense probably damaging 1.00
R5820:Arid1b UTSW 17 5,046,529 (GRCm39) missense possibly damaging 0.96
R5992:Arid1b UTSW 17 5,045,231 (GRCm39) unclassified probably benign
R6038:Arid1b UTSW 17 5,386,957 (GRCm39) missense probably benign 0.07
R6038:Arid1b UTSW 17 5,386,957 (GRCm39) missense probably benign 0.07
R6153:Arid1b UTSW 17 5,293,107 (GRCm39) missense probably damaging 1.00
R6222:Arid1b UTSW 17 5,377,922 (GRCm39) critical splice acceptor site probably null
R6249:Arid1b UTSW 17 5,329,636 (GRCm39) missense possibly damaging 0.61
R6279:Arid1b UTSW 17 5,392,274 (GRCm39) missense probably damaging 1.00
R6329:Arid1b UTSW 17 5,387,538 (GRCm39) nonsense probably null
R6368:Arid1b UTSW 17 5,382,808 (GRCm39) missense possibly damaging 0.64
R6466:Arid1b UTSW 17 5,377,953 (GRCm39) missense probably damaging 1.00
R6861:Arid1b UTSW 17 5,377,961 (GRCm39) missense possibly damaging 0.93
R7008:Arid1b UTSW 17 5,341,254 (GRCm39) missense probably damaging 1.00
R7270:Arid1b UTSW 17 5,046,318 (GRCm39) missense unknown
R7514:Arid1b UTSW 17 5,391,989 (GRCm39) missense probably benign 0.28
R7519:Arid1b UTSW 17 5,046,128 (GRCm39) small insertion probably benign
R7519:Arid1b UTSW 17 5,046,119 (GRCm39) small insertion probably benign
R7521:Arid1b UTSW 17 5,392,865 (GRCm39) missense probably benign 0.06
R7521:Arid1b UTSW 17 5,046,119 (GRCm39) small insertion probably benign
R7521:Arid1b UTSW 17 5,046,135 (GRCm39) small insertion probably benign
R7616:Arid1b UTSW 17 5,045,661 (GRCm39) missense unknown
R7654:Arid1b UTSW 17 5,341,360 (GRCm39) missense possibly damaging 0.46
R7711:Arid1b UTSW 17 5,387,095 (GRCm39) missense probably benign 0.28
R7828:Arid1b UTSW 17 5,147,943 (GRCm39) missense probably damaging 1.00
R7864:Arid1b UTSW 17 5,392,530 (GRCm39) missense probably damaging 1.00
R7998:Arid1b UTSW 17 5,377,959 (GRCm39) missense probably damaging 1.00
R8105:Arid1b UTSW 17 5,341,518 (GRCm39) missense possibly damaging 0.81
R8260:Arid1b UTSW 17 5,382,788 (GRCm39) missense probably benign 0.03
R8374:Arid1b UTSW 17 5,392,919 (GRCm39) missense possibly damaging 0.95
R8779:Arid1b UTSW 17 5,391,809 (GRCm39) missense probably benign 0.03
R8801:Arid1b UTSW 17 5,387,103 (GRCm39) missense probably benign 0.05
R8894:Arid1b UTSW 17 5,377,668 (GRCm39) missense probably damaging 0.98
R8982:Arid1b UTSW 17 5,293,316 (GRCm39) missense probably damaging 0.98
R9034:Arid1b UTSW 17 5,387,180 (GRCm39) missense probably benign 0.01
R9272:Arid1b UTSW 17 5,386,879 (GRCm39) missense possibly damaging 0.80
R9300:Arid1b UTSW 17 5,293,274 (GRCm39) missense probably damaging 1.00
R9332:Arid1b UTSW 17 5,045,584 (GRCm39) missense unknown
R9481:Arid1b UTSW 17 5,369,007 (GRCm39) missense probably damaging 1.00
R9493:Arid1b UTSW 17 5,046,423 (GRCm39) missense unknown
R9512:Arid1b UTSW 17 5,391,864 (GRCm39) missense probably benign 0.00
RF007:Arid1b UTSW 17 5,045,869 (GRCm39) small insertion probably benign
RF008:Arid1b UTSW 17 5,045,870 (GRCm39) small insertion probably benign
RF008:Arid1b UTSW 17 5,045,869 (GRCm39) small insertion probably benign
RF025:Arid1b UTSW 17 5,045,871 (GRCm39) small insertion probably benign
RF025:Arid1b UTSW 17 5,045,863 (GRCm39) small insertion probably benign
RF028:Arid1b UTSW 17 5,045,873 (GRCm39) small insertion probably benign
RF032:Arid1b UTSW 17 5,045,863 (GRCm39) small insertion probably benign
RF033:Arid1b UTSW 17 5,045,860 (GRCm39) small insertion probably benign
RF041:Arid1b UTSW 17 5,045,870 (GRCm39) small insertion probably benign
RF045:Arid1b UTSW 17 5,045,858 (GRCm39) small insertion probably benign
RF046:Arid1b UTSW 17 5,045,865 (GRCm39) small insertion probably benign
RF058:Arid1b UTSW 17 5,045,858 (GRCm39) small insertion probably benign
X0023:Arid1b UTSW 17 5,392,668 (GRCm39) missense probably benign 0.39
X0027:Arid1b UTSW 17 5,392,647 (GRCm39) nonsense probably null
Z1177:Arid1b UTSW 17 5,046,603 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- AGCAACAGCCTGAACTGGAG -3'
(R):5'- AGAGTGTGACTTTTGTTAGCTCTCC -3'

Sequencing Primer
(F):5'- CATCTCTGTAAGAAGTTGGGGCAC -3'
(R):5'- GTTAGCTCTCCCCAAATCTTCACAAG -3'
Posted On 2022-07-18