Incidental Mutation 'R6765:Arid4b'
ID 531878
Institutional Source Beutler Lab
Gene Symbol Arid4b
Ensembl Gene ENSMUSG00000039219
Gene Name AT-rich interaction domain 4B
Synonyms 6330417L24Rik, Rbp1l1, 6720480E17Rik, BRCAA1, SAP180, RBBP1L1
MMRRC Submission 044881-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6765 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 14238334-14374188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14361900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 788 (M788K)
Ref Sequence ENSEMBL: ENSMUSP00000106165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110534] [ENSMUST00000110536]
AlphaFold A2CG63
Predicted Effect possibly damaging
Transcript: ENSMUST00000039538
AA Change: M788K

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: M788K

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: ENSMUST00000110534
AA Change: M875K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: M875K

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 possibly damaging
Transcript: ENSMUST00000110536
AA Change: M788K

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: M788K

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: ENSMUST00000151151
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 C A 7: 82,216,232 (GRCm39) D878E possibly damaging Het
Adipor2 A C 6: 119,334,203 (GRCm39) F336V possibly damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aoc1 A G 6: 48,882,871 (GRCm39) N249S probably benign Het
Ap1b1 T A 11: 4,969,427 (GRCm39) L261Q probably damaging Het
Ap3b1 T A 13: 94,599,017 (GRCm39) D530E probably benign Het
Atp2c2 A T 8: 120,479,756 (GRCm39) I762F probably damaging Het
Bhlhe23 C A 2: 180,418,136 (GRCm39) R134L probably damaging Het
Cacna2d3 T C 14: 28,777,934 (GRCm39) D687G probably damaging Het
Ccdc136 G A 6: 29,405,940 (GRCm39) M95I probably benign Het
Cdk12 T A 11: 98,115,355 (GRCm39) I832N unknown Het
Clcn2 A C 16: 20,526,418 (GRCm39) probably null Het
Csrnp2 C T 15: 100,380,574 (GRCm39) R239Q probably damaging Het
Dhrs13 T A 11: 77,927,965 (GRCm39) D270E probably benign Het
Dlgap2 G A 8: 14,793,284 (GRCm39) G426D probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fam120a A G 13: 49,045,440 (GRCm39) Y799H probably damaging Het
Farp1 G A 14: 121,460,066 (GRCm39) V112I probably benign Het
Fhip2a A G 19: 57,367,177 (GRCm39) D240G probably benign Het
Fsip2 A G 2: 82,816,776 (GRCm39) I4170V probably benign Het
Gm12185 A G 11: 48,806,531 (GRCm39) V220A probably benign Het
Gpr37l1 T C 1: 135,094,860 (GRCm39) Y128C probably damaging Het
Gsto2 A T 19: 47,860,227 (GRCm39) R7* probably null Het
Itih3 C T 14: 30,631,430 (GRCm39) G822D probably benign Het
Kcnu1 A T 8: 26,403,673 (GRCm39) D728V probably damaging Het
Khdc4 G T 3: 88,593,736 (GRCm39) G42W probably damaging Het
Lnpep G A 17: 17,750,758 (GRCm39) T976I probably damaging Het
Map1b A C 13: 99,562,449 (GRCm39) H2420Q unknown Het
Mc1r A G 8: 124,134,435 (GRCm39) K63E probably damaging Het
Mpped1 G A 15: 83,720,584 (GRCm39) V15M probably damaging Het
Ncor1 T C 11: 62,264,272 (GRCm39) T103A probably benign Het
Nhsl1 A T 10: 18,407,062 (GRCm39) T1399S probably benign Het
Nlrc5 C T 8: 95,216,996 (GRCm39) T995M probably benign Het
Nrbp1 G A 5: 31,403,190 (GRCm39) probably null Het
Or10g9 A C 9: 39,912,493 (GRCm39) F10C probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or8k27 T C 2: 86,275,580 (GRCm39) T249A probably benign Het
Pcdhb13 T C 18: 37,576,663 (GRCm39) L347P probably damaging Het
Pkhd1 T C 1: 20,128,563 (GRCm39) T4047A probably benign Het
Prrt2 T A 7: 126,618,769 (GRCm39) D232V probably damaging Het
Psmd5 A C 2: 34,746,545 (GRCm39) M344R probably benign Het
Pwp1 G A 10: 85,720,397 (GRCm39) E345K probably damaging Het
Qsox1 A G 1: 155,666,851 (GRCm39) Y213H probably benign Het
Rmc1 A G 18: 12,309,203 (GRCm39) N92D possibly damaging Het
Sclt1 T C 3: 41,685,337 (GRCm39) R39G unknown Het
Syne1 A T 10: 5,093,285 (GRCm39) probably null Het
Tmem163 G T 1: 127,479,078 (GRCm39) A147E probably damaging Het
Trav13n-4 A T 14: 53,601,557 (GRCm39) M109L probably benign Het
Trp53bp1 T C 2: 121,039,790 (GRCm39) E1283G probably damaging Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Upb1 A T 10: 75,273,978 (GRCm39) D335V probably damaging Het
Vps26b T C 9: 26,924,104 (GRCm39) E213G probably damaging Het
Vwc2 C T 11: 11,104,215 (GRCm39) T249I probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zan A G 5: 137,391,409 (GRCm39) C4692R unknown Het
Zfp106 T C 2: 120,369,935 (GRCm39) E29G probably damaging Het
Zfp551 G A 7: 12,150,767 (GRCm39) A214V possibly damaging Het
Zfp981 T A 4: 146,622,363 (GRCm39) H429Q probably benign 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
IGL02031:Arid4b APN 13 14,327,997 (GRCm39) splice site 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
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
Predicted Primers PCR Primer
(F):5'- TCGGAAGATACTGATTTTGAAGAGG -3'
(R):5'- AGGCCACTGTCCCTGAATAC -3'

Sequencing Primer
(F):5'- GACACAACAGACAAGGCTTTAAAG -3'
(R):5'- TGTCCCTGAATACTTGACCAGAC -3'
Posted On 2018-08-29