Incidental Mutation 'R4972:Arid4b'
ID 444548
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 042567-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4972 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14238334-14374188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14334857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 355 (N355K)
Ref Sequence ENSEMBL: ENSMUSP00000106162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039538] [ENSMUST00000110533] [ENSMUST00000110534] [ENSMUST00000110536] [ENSMUST00000129488]
AlphaFold A2CG63
Predicted Effect probably benign
Transcript: ENSMUST00000039538
AA Change: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043889
Gene: ENSMUSG00000039219
AA Change: N355K

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
AA Change: N355K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106162
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106163
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106165
Gene: ENSMUSG00000039219
AA Change: N355K

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: N355K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118687
Gene: ENSMUSG00000039219
AA Change: N355K

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 noncoding transcript
Transcript: ENSMUST00000149579
Meta Mutation Damage Score 0.2289 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 93% (82/88)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,383,361 (GRCm39) I868N possibly damaging Het
A730013G03Rik C G 1: 192,516,081 (GRCm39) noncoding transcript Het
Actl11 A G 9: 107,807,155 (GRCm39) T493A probably benign Het
Actn1 T C 12: 80,219,813 (GRCm39) D686G probably benign Het
Adamts1 G A 16: 85,592,833 (GRCm39) T525I probably damaging Het
Adcy10 T A 1: 165,384,431 (GRCm39) L1064H probably damaging Het
AI661453 A T 17: 47,777,324 (GRCm39) probably benign Het
Apba1 T A 19: 23,889,900 (GRCm39) S433T probably benign Het
Bsn A T 9: 107,992,377 (GRCm39) M1125K probably damaging Het
C2cd5 A T 6: 142,958,950 (GRCm39) M1003K probably damaging Het
Ccdc18 A G 5: 108,339,869 (GRCm39) M805V probably benign Het
Cep89 T G 7: 35,131,977 (GRCm39) L637R probably damaging Het
Col24a1 A T 3: 145,215,439 (GRCm39) I1444F probably benign Het
Commd4 A T 9: 57,062,732 (GRCm39) S175T probably benign Het
Coq7 A G 7: 118,109,340 (GRCm39) V236A unknown Het
Dctn2 C T 10: 127,112,572 (GRCm39) R176C probably damaging Het
Ddx31 T C 2: 28,750,782 (GRCm39) F389L probably damaging Het
Dgkz C T 2: 91,776,047 (GRCm39) R72H probably benign Het
Dpysl4 A G 7: 138,670,206 (GRCm39) D24G probably damaging Het
Dydc1 A G 14: 40,804,295 (GRCm39) T106A probably benign Het
F13b A G 1: 139,438,661 (GRCm39) Y355C probably damaging Het
Fcrl5 A G 3: 87,361,957 (GRCm39) M407V probably benign Het
Fzd5 C A 1: 64,775,171 (GRCm39) V197L probably benign Het
Galnt16 G T 12: 80,619,103 (GRCm39) E70* probably null Het
Gpr171 A T 3: 59,005,386 (GRCm39) F130I probably damaging Het
Grin3a T C 4: 49,770,484 (GRCm39) N763D probably damaging Het
Gsta2 A T 9: 78,244,961 (GRCm39) M51K probably damaging Het
Gvin-ps3 T C 7: 105,682,521 (GRCm39) noncoding transcript Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Il18r1 C T 1: 40,530,224 (GRCm39) P317L probably benign Het
Iscu T A 5: 113,915,037 (GRCm39) probably benign Het
Kif6 A G 17: 50,014,647 (GRCm39) D250G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lcn6 T A 2: 25,570,079 (GRCm39) C82S probably damaging Het
Mob4 C G 1: 55,190,161 (GRCm39) L135V possibly damaging Het
Mpzl3 T A 9: 44,973,554 (GRCm39) probably benign Het
Mvp T C 7: 126,588,970 (GRCm39) D599G probably damaging Het
Myo1a T C 10: 127,552,178 (GRCm39) Y766H probably benign Het
Myo5b A G 18: 74,760,264 (GRCm39) H260R probably damaging Het
Nbea C T 3: 55,992,667 (GRCm39) R313H probably damaging Het
Necab1 T A 4: 14,978,216 (GRCm39) D211V probably damaging Het
Nefl G T 14: 68,324,212 (GRCm39) probably benign Het
Nfx1 T A 4: 40,976,375 (GRCm39) D16E probably benign Het
Nlrp9a G T 7: 26,269,964 (GRCm39) C797F probably damaging Het
Or4k36 T A 2: 111,146,163 (GRCm39) V113E probably damaging Het
Or5p5 A G 7: 107,413,953 (GRCm39) Q56R probably benign Het
Pde6b A G 5: 108,573,130 (GRCm39) D500G probably benign Het
Pgs1 T C 11: 117,896,719 (GRCm39) probably null Het
Polr3b T A 10: 84,473,988 (GRCm39) I189N probably damaging Het
Ppwd1 A T 13: 104,356,616 (GRCm39) S300T probably benign Het
Prl2c2 A C 13: 13,176,755 (GRCm39) N55K possibly damaging Het
Prpf19 C T 19: 10,876,709 (GRCm39) probably benign Het
Prph2 G T 17: 47,221,733 (GRCm39) L37F possibly damaging Het
Ptprg G T 14: 12,226,427 (GRCm38) R565L possibly damaging Het
Rab8a C T 8: 72,925,119 (GRCm39) T74M probably damaging Het
Rexo1 A T 10: 80,385,527 (GRCm39) F510L probably damaging Het
Rexo2 G T 9: 48,390,689 (GRCm39) T51K probably damaging Het
Sh3d21 T C 4: 126,046,209 (GRCm39) K147R possibly damaging Het
Skint6 A G 4: 112,692,265 (GRCm39) I1062T probably benign Het
Spag16 C T 1: 70,764,087 (GRCm39) R636W probably damaging Het
Spata16 T C 3: 26,894,872 (GRCm39) I307T possibly damaging Het
Speer4f2 T G 5: 17,579,423 (GRCm39) I74S probably benign Het
Svep1 T A 4: 58,087,778 (GRCm39) Y1767F possibly damaging Het
Swt1 T C 1: 151,299,293 (GRCm39) S7G probably benign Het
Tex9 A G 9: 72,385,620 (GRCm39) probably null Het
Thsd7b C A 1: 130,116,309 (GRCm39) P1354H probably damaging Het
Ticrr A G 7: 79,319,416 (GRCm39) D467G probably damaging Het
Tmco5b A C 2: 113,127,338 (GRCm39) D303A probably damaging Het
Trpm7 A G 2: 126,665,978 (GRCm39) V876A probably damaging Het
Ttc21a G A 9: 119,774,027 (GRCm39) E245K probably benign Het
Vezt C T 10: 93,836,212 (GRCm39) probably null Het
Zscan20 G A 4: 128,486,152 (GRCm39) P183S 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
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'- TGGAGCCACGGGTTTAGATAAG -3'
(R):5'- CTGTTTCATTCTGACAGAGGAAATGAC -3'

Sequencing Primer
(F):5'- CACGGGTTTAGATAAGAAAGTGTTTG -3'
(R):5'- TTCTGACAGAGGAAATGACAAAGTG -3'
Posted On 2016-11-15