Incidental Mutation 'R7342:Arid4b'
ID 569956
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 045432-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 14238334-14374188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 14310804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 136 (I136L)
Ref Sequence ENSEMBL: ENSMUSP00000106163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488] [ENSMUST00000222928]
AlphaFold A2CG63
Predicted Effect probably benign
Transcript: ENSMUST00000039538
AA Change: I136L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: I136L

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 possibly damaging
Transcript: ENSMUST00000110533
AA Change: I136L

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: I136L

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
AA Change: I136L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: I136L

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
AA Change: I136L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: I136L

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
AA Change: I136L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: I136L

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
Meta Mutation Damage Score 0.0781 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) 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
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
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'- AAAGTTGTATTGTAGCCTTCCTTGG -3'
(R):5'- ATCTATGAAGGAGCCCTGGAGG -3'

Sequencing Primer
(F):5'- GAAGAAAGCACTTGCAAAGT -3'
(R):5'- AGGAGTCTGCATCGCTATCAG -3'
Posted On 2019-09-13