Incidental Mutation 'R0970:Arid3b'
ID 84025
Institutional Source Beutler Lab
Gene Symbol Arid3b
Ensembl Gene ENSMUSG00000004661
Gene Name AT-rich interaction domain 3B
Synonyms Bdp, Dri2
MMRRC Submission 039099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0970 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57697636-57744076 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 57740834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004780] [ENSMUST00000098686] [ENSMUST00000114165] [ENSMUST00000164010] [ENSMUST00000164035] [ENSMUST00000171444]
AlphaFold Q9Z1N7
Predicted Effect probably benign
Transcript: ENSMUST00000004780
SMART Domains Protein: ENSMUSP00000004780
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
ARID 210 301 9.52e-35 SMART
BRIGHT 214 306 6.43e-39 SMART
low complexity region 339 358 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
low complexity region 528 559 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098686
SMART Domains Protein: ENSMUSP00000096283
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
ARID 210 301 9.52e-35 SMART
BRIGHT 214 306 6.43e-39 SMART
low complexity region 339 358 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114165
SMART Domains Protein: ENSMUSP00000109802
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163186
SMART Domains Protein: ENSMUSP00000130053
Gene: ENSMUSG00000091908

DomainStartEndE-ValueType
low complexity region 96 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164010
SMART Domains Protein: ENSMUSP00000126889
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
SCOP:d1c20a_ 174 240 6e-9 SMART
PDB:4LJX|B 204 238 4e-9 PDB
Blast:ARID 210 231 5e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164035
SMART Domains Protein: ENSMUSP00000131677
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
SCOP:d1c20a_ 174 233 2e-8 SMART
PDB:4LJX|B 204 268 1e-10 PDB
Blast:ARID 210 267 3e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165858
SMART Domains Protein: ENSMUSP00000130213
Gene: ENSMUSG00000091908

DomainStartEndE-ValueType
low complexity region 96 116 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167670
Predicted Effect probably benign
Transcript: ENSMUST00000171444
SMART Domains Protein: ENSMUSP00000130173
Gene: ENSMUSG00000004661

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 88 116 N/A INTRINSIC
ARID 210 301 9.52e-35 SMART
BRIGHT 214 306 6.43e-39 SMART
low complexity region 339 358 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
low complexity region 528 559 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (40/41)
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 ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E11.5 displaying variable phenotypes associated with impaired generation of cranial-mesenchymal cells in the first and second branchial arches. Common defects include a wavy neural tube, small branchial arches, and a defective cardiovascular system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,661,364 (GRCm39) S307P probably damaging Het
Amdhd2 C T 17: 24,375,544 (GRCm39) probably null Het
Ano1 A T 7: 144,149,308 (GRCm39) M851K probably benign Het
Arpp21 A G 9: 111,965,516 (GRCm39) probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
C87436 G A 6: 86,424,310 (GRCm39) V281M probably damaging Het
Cep70 A G 9: 99,157,652 (GRCm39) K184E possibly damaging Het
Clcn7 T C 17: 25,370,208 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a2 A G 8: 11,465,438 (GRCm39) T383A probably benign Het
Commd5 A T 15: 76,784,885 (GRCm39) probably null Het
Cyp4b1 G A 4: 115,492,833 (GRCm39) A292V probably benign Het
Dthd1 T C 5: 63,045,324 (GRCm39) L696P probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eepd1 A G 9: 25,514,722 (GRCm39) R510G probably damaging Het
Eno3 T C 11: 70,551,628 (GRCm39) I196T probably damaging Het
Eva1a A G 6: 82,069,084 (GRCm39) E137G probably damaging Het
Gapvd1 T A 2: 34,620,625 (GRCm39) probably null Het
Ggnbp2 T C 11: 84,753,138 (GRCm39) M34V possibly damaging Het
Gpihbp1 G A 15: 75,469,795 (GRCm39) S170N probably benign Het
Kdm3b T C 18: 34,942,092 (GRCm39) S528P probably damaging Het
Lrrk2 A T 15: 91,613,372 (GRCm39) Q832L probably benign Het
Nav2 C A 7: 49,233,901 (GRCm39) P1861Q probably damaging Het
Or52n5 A C 7: 104,588,284 (GRCm39) M184L probably benign Het
Piezo1 A T 8: 123,213,549 (GRCm39) I1782N possibly damaging Het
Pikfyve T A 1: 65,304,983 (GRCm39) S1757T probably damaging Het
Plxnb1 G T 9: 108,932,331 (GRCm39) W523C probably damaging Het
Pmm2 G T 16: 8,460,640 (GRCm39) L31F probably damaging Het
Ppm1f T C 16: 16,721,457 (GRCm39) probably null Het
Prss16 T C 13: 22,189,287 (GRCm39) Y34C probably damaging Het
Slc10a2 C G 8: 5,155,115 (GRCm39) E23D probably benign Het
Smc5 T A 19: 23,216,362 (GRCm39) I489F probably damaging Het
Snx2 T C 18: 53,343,762 (GRCm39) probably benign Het
Stradb C T 1: 59,016,219 (GRCm39) L3F possibly damaging Het
Tnxb C G 17: 34,917,917 (GRCm39) P2277A possibly damaging Het
Tpm2 T A 4: 43,515,968 (GRCm39) I270F probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Urb1 A T 16: 90,566,335 (GRCm39) L1484Q possibly damaging Het
Xylt1 G A 7: 117,233,963 (GRCm39) V497I probably damaging Het
Other mutations in Arid3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Arid3b APN 9 57,741,207 (GRCm39) missense possibly damaging 0.92
IGL01394:Arid3b APN 9 57,702,317 (GRCm39) missense probably damaging 1.00
IGL01950:Arid3b APN 9 57,702,257 (GRCm39) missense probably damaging 1.00
R1848:Arid3b UTSW 9 57,703,960 (GRCm39) nonsense probably null
R1940:Arid3b UTSW 9 57,703,431 (GRCm39) missense possibly damaging 0.86
R4290:Arid3b UTSW 9 57,697,713 (GRCm39) unclassified probably benign
R4293:Arid3b UTSW 9 57,697,713 (GRCm39) unclassified probably benign
R4424:Arid3b UTSW 9 57,741,151 (GRCm39) missense probably benign 0.22
R4449:Arid3b UTSW 9 57,705,404 (GRCm39) nonsense probably null
R5353:Arid3b UTSW 9 57,702,320 (GRCm39) splice site probably null
R5544:Arid3b UTSW 9 57,705,380 (GRCm39) nonsense probably null
R6828:Arid3b UTSW 9 57,717,446 (GRCm39) critical splice donor site probably null
R7168:Arid3b UTSW 9 57,712,818 (GRCm39) missense probably benign 0.00
R7254:Arid3b UTSW 9 57,704,037 (GRCm39) missense probably damaging 0.99
R7398:Arid3b UTSW 9 57,703,495 (GRCm39) missense probably benign 0.01
R7882:Arid3b UTSW 9 57,703,780 (GRCm39) missense possibly damaging 0.85
R7891:Arid3b UTSW 9 57,717,442 (GRCm39) missense probably benign 0.00
R8877:Arid3b UTSW 9 57,740,904 (GRCm39) missense probably damaging 0.99
R9043:Arid3b UTSW 9 57,699,900 (GRCm39) missense possibly damaging 0.75
R9094:Arid3b UTSW 9 57,741,327 (GRCm39) missense probably damaging 1.00
R9186:Arid3b UTSW 9 57,702,217 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACATGATATTGGGTTTGCTTGGAGCTAA -3'
(R):5'- CGGACTTTCACCACAGGGACAACA -3'

Sequencing Primer
(F):5'- cctcttcttcctccacttcc -3'
(R):5'- GGGACAACAAACTAAAGAAGACC -3'
Posted On 2013-11-08