Incidental Mutation 'R4930:Arid4b'
ID 381183
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 042531-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4930 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14238334-14374188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14362062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 929 (V929A)
Ref Sequence ENSEMBL: ENSMUSP00000106163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110534] [ENSMUST00000110536]
AlphaFold A2CG63
Predicted Effect probably damaging
Transcript: ENSMUST00000039538
AA Change: V842A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: V842A

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 damaging
Transcript: ENSMUST00000110534
AA Change: V929A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: V929A

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 damaging
Transcript: ENSMUST00000110536
AA Change: V842A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: V842A

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 noncoding transcript
Transcript: ENSMUST00000148941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149579
Predicted Effect probably benign
Transcript: ENSMUST00000151151
Meta Mutation Damage Score 0.1298 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 99% (88/89)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C T 12: 72,953,008 (GRCm39) E242K possibly damaging Het
A930011G23Rik A G 5: 99,370,263 (GRCm39) M499T possibly damaging Het
Abcb8 G A 5: 24,605,779 (GRCm39) V196M possibly damaging Het
Ahnak T C 19: 8,988,331 (GRCm39) M3205T possibly damaging Het
Ankrd1 A G 19: 36,092,433 (GRCm39) Y265H probably damaging Het
Apeh A G 9: 107,965,024 (GRCm39) S446P probably benign Het
Apip C A 2: 102,922,226 (GRCm39) Y197* probably null Het
Arhgef11 T G 3: 87,635,901 (GRCm39) V925G probably damaging Het
Asah2 T A 19: 32,030,306 (GRCm39) D122V probably benign Het
B2m A T 2: 121,982,128 (GRCm39) D116V possibly damaging Het
Bhmt-ps1 A G 4: 26,369,184 (GRCm39) noncoding transcript Het
Cacna1g T A 11: 94,334,899 (GRCm39) I803F probably damaging Het
Ccdc43 A T 11: 102,581,111 (GRCm39) V113E probably damaging Het
Cenpj A T 14: 56,772,238 (GRCm39) Y388* probably null Het
Chd3 G A 11: 69,245,034 (GRCm39) probably benign Het
Chil3 C T 3: 106,071,524 (GRCm39) D47N possibly damaging Het
Colgalt2 A G 1: 152,375,710 (GRCm39) T361A possibly damaging Het
Cops3 C A 11: 59,726,193 (GRCm39) probably benign Het
Crb2 G T 2: 37,673,326 (GRCm39) G74V probably damaging Het
Cspg4b G T 13: 113,464,196 (GRCm39) G1453C probably damaging Het
Cyp20a1 A T 1: 60,405,878 (GRCm39) Y224F probably damaging Het
Diaph3 A G 14: 87,378,602 (GRCm39) probably benign Het
Dnah3 A T 7: 119,550,904 (GRCm39) Y3127* probably null Het
Eef1akmt3 A C 10: 126,877,224 (GRCm39) S14A possibly damaging Het
Ehf C A 2: 103,097,202 (GRCm39) R250L probably damaging Het
Eps8l1 G A 7: 4,463,915 (GRCm39) R13Q possibly damaging Het
Frem2 A C 3: 53,563,736 (GRCm39) V257G possibly damaging Het
Gc T C 5: 89,587,448 (GRCm39) T259A probably benign Het
Gm4952 A T 19: 12,604,376 (GRCm39) N263Y probably benign Het
Gpcpd1 T A 2: 132,388,794 (GRCm39) H326L probably damaging Het
Helz T C 11: 107,510,994 (GRCm39) F617L probably damaging Het
Hoxb4 T C 11: 96,209,662 (GRCm39) Y23H probably damaging Het
Hsf4 T A 8: 105,999,330 (GRCm39) probably null Het
Ift56 A T 6: 38,368,475 (GRCm39) Y174F probably damaging Het
Ighv1-81 T C 12: 115,883,924 (GRCm39) D109G probably damaging Het
Irx4 T C 13: 73,417,032 (GRCm39) V476A probably benign Het
Katnb1 T A 8: 95,823,922 (GRCm39) probably null Het
L3mbtl1 A G 2: 162,807,692 (GRCm39) Y490C probably damaging Het
Lemd2 A G 17: 27,412,806 (GRCm39) probably null Het
Lrrc38 A T 4: 143,096,438 (GRCm39) T250S probably damaging Het
Map3k8 A T 18: 4,349,215 (GRCm39) Y34* probably null Het
Mgst1 T A 6: 138,130,507 (GRCm39) F79I probably benign Het
Midn T C 10: 79,991,189 (GRCm39) S357P probably benign Het
Mmp3 T A 9: 7,447,640 (GRCm39) D208E probably benign Het
Mrps26 A G 2: 130,406,862 (GRCm39) E163G probably damaging Het
Mycbpap A T 11: 94,393,983 (GRCm39) M371K probably benign Het
Mynn A C 3: 30,661,191 (GRCm39) N91T probably damaging Het
Nek11 A G 9: 105,177,265 (GRCm39) L292P probably damaging Het
Nid1 A T 13: 13,684,596 (GRCm39) R1228W probably damaging Het
Nphs2 T C 1: 156,148,499 (GRCm39) Y121H probably damaging Het
Or1f19 T G 16: 3,410,299 (GRCm39) L13R probably damaging Het
Or4p7 G A 2: 88,222,284 (GRCm39) R231H probably benign Het
Or5ac22 C A 16: 59,135,236 (GRCm39) C178F probably damaging Het
Or5ap2 T A 2: 85,680,237 (GRCm39) I147N probably benign Het
Or5d38 A C 2: 87,954,684 (GRCm39) I215S probably benign Het
Or7e176 T C 9: 20,171,313 (GRCm39) I59T probably damaging Het
Or9q2 T C 19: 13,772,915 (GRCm39) H20R probably benign Het
P2rx7 C T 5: 122,808,542 (GRCm39) T308M probably damaging Het
Prdx6 C T 1: 161,069,263 (GRCm39) probably benign Het
Rad54b T A 4: 11,615,579 (GRCm39) D862E probably damaging Het
Ripor1 A G 8: 106,343,814 (GRCm39) Y344C probably damaging Het
Rnf112 T C 11: 61,344,291 (GRCm39) M43V probably benign Het
Rp1l1 A G 14: 64,269,655 (GRCm39) N1747S probably benign Het
Rps27 A G 3: 90,120,306 (GRCm39) V22A probably damaging Het
Spaca1 A G 4: 34,044,236 (GRCm39) V86A possibly damaging Het
Spdef A G 17: 27,937,136 (GRCm39) Y156H probably damaging Het
Specc1 A C 11: 62,009,784 (GRCm39) E433D possibly damaging Het
Srpra T A 9: 35,126,326 (GRCm39) F506L probably benign Het
Stxbp5 A G 10: 9,636,610 (GRCm39) probably benign Het
Syne1 C T 10: 5,002,777 (GRCm39) R8046Q probably damaging Het
Tbx5 T A 5: 120,021,090 (GRCm39) S365R probably benign Het
Terb1 G T 8: 105,174,580 (GRCm39) P698Q probably benign Het
Tmbim7 T A 5: 3,711,948 (GRCm39) Y27* probably null Het
Tmem106c C A 15: 97,862,909 (GRCm39) A60E possibly damaging Het
Ttc6 T A 12: 57,720,609 (GRCm39) probably null Het
Ttn T C 2: 76,562,714 (GRCm39) I28747V possibly damaging Het
Unc13a C T 8: 72,083,148 (GRCm39) probably null Het
Wdr81 T C 11: 75,342,750 (GRCm39) D839G probably benign Het
Wfdc15a G C 2: 164,041,725 (GRCm39) Q33E probably benign Het
Zfp456 T C 13: 67,515,065 (GRCm39) R214G probably benign Het
Zfp457 T A 13: 67,442,164 (GRCm39) Y137F 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
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
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
Predicted Primers PCR Primer
(F):5'- CGCTCTGCACAGAAAACAGTAG -3'
(R):5'- GCTCCATAATGGGTGAACAACTC -3'

Sequencing Primer
(F):5'- TAACAGCTCCTCAGATGAAGATG -3'
(R):5'- TAATGGGTGAACAACTCTCCTC -3'
Posted On 2016-04-15