Incidental Mutation 'IGL02031:Arid4b'
ID 184381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid4b
Ensembl Gene ENSMUSG00000039219
Gene Name AT-rich interaction domain 4B
Synonyms 6330417L24Rik, Rbp1l1, 6720480E17Rik, BRCAA1, SAP180, RBBP1L1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02031
Quality Score
Status
Chromosome 13
Chromosomal Location 14238334-14374188 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 14327997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488] [ENSMUST00000222928]
AlphaFold A2CG63
Predicted Effect probably benign
Transcript: ENSMUST00000039538
SMART Domains Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219

DomainStartEndE-ValueType
TUDOR 58 114 4.13e-9 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:RBB1NT 166 264 3.4e-46 PFAM
ARID 303 394 3.81e-34 SMART
BRIGHT 307 399 4.99e-36 SMART
low complexity region 421 441 N/A INTRINSIC
low complexity region 543 562 N/A INTRINSIC
low complexity region 621 635 N/A INTRINSIC
low complexity region 704 713 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 769 785 N/A INTRINSIC
low complexity region 937 949 N/A INTRINSIC
low complexity region 954 964 N/A INTRINSIC
low complexity region 1002 1016 N/A INTRINSIC
low complexity region 1054 1068 N/A INTRINSIC
coiled coil region 1145 1182 N/A INTRINSIC
low complexity region 1186 1204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110533
SMART Domains Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219

DomainStartEndE-ValueType
TUDOR 58 114 4.13e-9 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:RBB1NT 166 264 9.5e-48 PFAM
ARID 303 394 3.81e-34 SMART
BRIGHT 307 399 4.99e-36 SMART
low complexity region 421 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110534
SMART Domains Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219

DomainStartEndE-ValueType
TUDOR 58 114 4.13e-9 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:RBB1NT 168 263 4.1e-39 PFAM
ARID 303 394 3.81e-34 SMART
BRIGHT 307 399 4.99e-36 SMART
low complexity region 421 441 N/A INTRINSIC
TUDOR 567 632 1.91e1 SMART
CHROMO 585 640 1.29e-1 SMART
low complexity region 708 722 N/A INTRINSIC
low complexity region 791 800 N/A INTRINSIC
low complexity region 802 815 N/A INTRINSIC
low complexity region 856 872 N/A INTRINSIC
low complexity region 1024 1036 N/A INTRINSIC
low complexity region 1041 1051 N/A INTRINSIC
low complexity region 1089 1103 N/A INTRINSIC
low complexity region 1141 1155 N/A INTRINSIC
coiled coil region 1232 1269 N/A INTRINSIC
low complexity region 1273 1291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110536
SMART Domains Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219

DomainStartEndE-ValueType
TUDOR 58 114 4.13e-9 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:RBB1NT 166 264 3.4e-46 PFAM
ARID 303 394 3.81e-34 SMART
BRIGHT 307 399 4.99e-36 SMART
low complexity region 421 441 N/A INTRINSIC
low complexity region 543 562 N/A INTRINSIC
low complexity region 621 635 N/A INTRINSIC
low complexity region 704 713 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 769 785 N/A INTRINSIC
low complexity region 937 949 N/A INTRINSIC
low complexity region 954 964 N/A INTRINSIC
low complexity region 1002 1016 N/A INTRINSIC
low complexity region 1054 1068 N/A INTRINSIC
coiled coil region 1145 1182 N/A INTRINSIC
low complexity region 1186 1204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129488
SMART Domains Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219

DomainStartEndE-ValueType
TUDOR 58 114 4.13e-9 SMART
low complexity region 151 165 N/A INTRINSIC
Pfam:RBB1NT 166 264 1.8e-46 PFAM
ARID 303 394 3.81e-34 SMART
BRIGHT 307 399 4.99e-36 SMART
low complexity region 421 441 N/A INTRINSIC
low complexity region 533 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000222928
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 protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die pre-implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,028 (GRCm39) probably benign Het
Akap11 T C 14: 78,751,253 (GRCm39) D378G possibly damaging Het
Ankrd33b A T 15: 31,325,329 (GRCm39) F129L probably damaging Het
Apob A G 12: 8,065,222 (GRCm39) K4064E probably benign Het
Arhgef10l T C 4: 140,302,656 (GRCm39) D506G probably damaging Het
Ccdc88c A T 12: 100,899,570 (GRCm39) Y1263N probably damaging Het
Ckap5 T C 2: 91,443,117 (GRCm39) L1697P possibly damaging Het
Cplane1 T C 15: 8,209,253 (GRCm39) F230S probably damaging Het
Cpxm1 C T 2: 130,235,601 (GRCm39) V464M probably damaging Het
Dhrs7c A G 11: 67,706,715 (GRCm39) E291G probably benign Het
Dst C A 1: 34,228,998 (GRCm39) P1872H possibly damaging Het
G6pc2 G A 2: 69,053,335 (GRCm39) A130T probably benign Het
Gm4847 A G 1: 166,462,578 (GRCm39) V304A probably damaging Het
Gm8267 T C 14: 44,955,374 (GRCm39) D155G possibly damaging Het
Kank1 G A 19: 25,388,066 (GRCm39) V580I probably benign Het
Kcnh4 A G 11: 100,636,649 (GRCm39) S757P probably damaging Het
Krt34 C A 11: 99,929,849 (GRCm39) A216S possibly damaging Het
Mfhas1 A T 8: 36,056,526 (GRCm39) I334F probably damaging Het
Mrgprb8 A G 7: 48,039,087 (GRCm39) M253V probably benign Het
Or52n4b A T 7: 108,144,137 (GRCm39) H133L probably benign Het
Pp2d1 T A 17: 53,815,468 (GRCm39) T419S probably damaging Het
Pprc1 T A 19: 46,060,782 (GRCm39) probably benign Het
Reln A G 5: 22,184,014 (GRCm39) S1662P probably damaging Het
Sema7a G A 9: 57,862,423 (GRCm39) E209K possibly damaging Het
Serinc2 C T 4: 130,158,237 (GRCm39) W15* probably null Het
Serpina3k A G 12: 104,311,525 (GRCm39) T368A probably benign Het
Setd3 A T 12: 108,129,289 (GRCm39) W54R probably damaging Het
Slc9c1 G A 16: 45,419,833 (GRCm39) S1001N probably benign Het
Snapc3 A G 4: 83,336,213 (GRCm39) D75G probably benign Het
Spata31e2 A G 1: 26,724,104 (GRCm39) Y359H probably damaging Het
Stard9 T C 2: 120,532,820 (GRCm39) S333P probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Other mutations in Arid4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Arid4b APN 13 14,365,719 (GRCm39) unclassified probably benign
IGL00581:Arid4b APN 13 14,334,780 (GRCm39) missense probably damaging 1.00
IGL00808:Arid4b APN 13 14,310,846 (GRCm39) critical splice donor site probably null
IGL01150:Arid4b APN 13 14,369,959 (GRCm39) nonsense probably null
IGL01570:Arid4b APN 13 14,361,394 (GRCm39) unclassified probably benign
IGL01942:Arid4b APN 13 14,310,749 (GRCm39) intron probably benign
IGL02183:Arid4b APN 13 14,344,575 (GRCm39) missense possibly damaging 0.68
R0096:Arid4b UTSW 13 14,303,779 (GRCm39) missense probably benign 0.08
R0096:Arid4b UTSW 13 14,303,779 (GRCm39) missense probably benign 0.08
R0514:Arid4b UTSW 13 14,358,902 (GRCm39) missense probably damaging 1.00
R0694:Arid4b UTSW 13 14,362,419 (GRCm39) missense probably damaging 0.96
R0746:Arid4b UTSW 13 14,317,623 (GRCm39) missense probably benign 0.01
R1624:Arid4b UTSW 13 14,358,979 (GRCm39) missense probably damaging 0.99
R1625:Arid4b UTSW 13 14,361,699 (GRCm39) missense probably damaging 0.99
R1812:Arid4b UTSW 13 14,370,014 (GRCm39) missense probably damaging 1.00
R1891:Arid4b UTSW 13 14,310,821 (GRCm39) missense possibly damaging 0.94
R1990:Arid4b UTSW 13 14,307,021 (GRCm39) missense probably damaging 0.99
R2051:Arid4b UTSW 13 14,362,230 (GRCm39) missense probably damaging 0.98
R2060:Arid4b UTSW 13 14,370,037 (GRCm39) missense probably damaging 1.00
R2344:Arid4b UTSW 13 14,328,075 (GRCm39) missense probably benign 0.26
R3605:Arid4b UTSW 13 14,294,826 (GRCm39) missense probably damaging 1.00
R3606:Arid4b UTSW 13 14,294,826 (GRCm39) missense probably damaging 1.00
R3844:Arid4b UTSW 13 14,361,645 (GRCm39) missense probably damaging 0.99
R3909:Arid4b UTSW 13 14,307,069 (GRCm39) missense probably damaging 1.00
R3938:Arid4b UTSW 13 14,361,513 (GRCm39) missense probably benign 0.34
R4394:Arid4b UTSW 13 14,329,557 (GRCm39) splice site probably null
R4466:Arid4b UTSW 13 14,307,095 (GRCm39) missense probably damaging 1.00
R4530:Arid4b UTSW 13 14,301,040 (GRCm39) missense probably damaging 0.98
R4537:Arid4b UTSW 13 14,294,746 (GRCm39) nonsense probably null
R4829:Arid4b UTSW 13 14,359,023 (GRCm39) missense probably benign 0.23
R4930:Arid4b UTSW 13 14,362,062 (GRCm39) missense probably damaging 0.99
R4972:Arid4b UTSW 13 14,334,857 (GRCm39) missense probably benign 0.07
R5119:Arid4b UTSW 13 14,338,866 (GRCm39) missense probably benign 0.15
R5236:Arid4b UTSW 13 14,301,034 (GRCm39) critical splice acceptor site probably null
R5304:Arid4b UTSW 13 14,361,514 (GRCm39) missense probably benign 0.34
R5439:Arid4b UTSW 13 14,362,281 (GRCm39) missense probably damaging 0.99
R5734:Arid4b UTSW 13 14,334,856 (GRCm39) missense probably benign 0.09
R5950:Arid4b UTSW 13 14,365,849 (GRCm39) splice site probably benign
R5951:Arid4b UTSW 13 14,317,648 (GRCm39) missense possibly damaging 0.80
R6645:Arid4b UTSW 13 14,294,737 (GRCm39) missense probably damaging 1.00
R6765:Arid4b UTSW 13 14,361,900 (GRCm39) missense possibly damaging 0.84
R6804:Arid4b UTSW 13 14,303,792 (GRCm39) missense probably benign 0.44
R7342:Arid4b UTSW 13 14,310,804 (GRCm39) missense probably benign 0.03
R7354:Arid4b UTSW 13 14,339,455 (GRCm39) missense probably benign 0.19
R7426:Arid4b UTSW 13 14,355,891 (GRCm39) critical splice donor site probably null
R7863:Arid4b UTSW 13 14,338,734 (GRCm39) missense probably benign 0.01
R8070:Arid4b UTSW 13 14,310,844 (GRCm39) missense probably benign 0.32
R8076:Arid4b UTSW 13 14,361,535 (GRCm39) missense probably benign 0.01
R8239:Arid4b UTSW 13 14,344,594 (GRCm39) missense probably benign
R8303:Arid4b UTSW 13 14,294,808 (GRCm39) missense probably damaging 1.00
R9047:Arid4b UTSW 13 14,355,815 (GRCm39) missense probably damaging 1.00
R9799:Arid4b UTSW 13 14,358,967 (GRCm39) missense probably benign
Posted On 2014-05-07