Incidental Mutation 'R8206:Arid4a'
ID 635927
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 71062764-71145366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71133361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1154 (D1154G)
Ref Sequence ENSEMBL: ENSMUSP00000035512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046305]
AlphaFold F8VPQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000046305
AA Change: D1154G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: D1154G

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
TUDOR 58 114 3.6e-12 SMART
low complexity region 152 167 N/A INTRINSIC
Pfam:RBB1NT 170 262 4e-32 PFAM
ARID 306 397 6.7e-37 SMART
BRIGHT 310 402 2.3e-40 SMART
low complexity region 411 422 N/A INTRINSIC
CHROMO 483 652 6.8e-6 SMART
low complexity region 690 707 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
low complexity region 991 1003 N/A INTRINSIC
coiled coil region 1185 1224 N/A INTRINSIC
low complexity region 1229 1252 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Arid4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Arid4a APN 12 71,119,367 (GRCm39) missense probably damaging 1.00
IGL00546:Arid4a APN 12 71,122,445 (GRCm39) missense probably benign
IGL00553:Arid4a APN 12 71,122,751 (GRCm39) missense probably benign 0.04
IGL00708:Arid4a APN 12 71,119,502 (GRCm39) missense probably benign 0.02
IGL00847:Arid4a APN 12 71,122,492 (GRCm39) missense probably damaging 1.00
IGL01112:Arid4a APN 12 71,119,507 (GRCm39) critical splice donor site probably null
IGL01456:Arid4a APN 12 71,114,036 (GRCm39) missense probably benign 0.00
IGL01505:Arid4a APN 12 71,083,889 (GRCm39) missense probably damaging 1.00
IGL01555:Arid4a APN 12 71,108,301 (GRCm39) splice site probably benign
IGL01631:Arid4a APN 12 71,069,036 (GRCm39) splice site probably benign
IGL02958:Arid4a APN 12 71,144,337 (GRCm39) missense probably benign 0.01
IGL03087:Arid4a APN 12 71,122,019 (GRCm39) missense possibly damaging 0.94
IGL03111:Arid4a APN 12 71,086,740 (GRCm39) missense probably damaging 1.00
IGL03234:Arid4a APN 12 71,091,834 (GRCm39) missense probably benign 0.34
After_8 UTSW 12 71,070,272 (GRCm39) critical splice acceptor site probably null
ariano UTSW 12 71,116,634 (GRCm39) nonsense probably null
Dusty UTSW 12 71,106,867 (GRCm39) missense probably damaging 1.00
guava UTSW 12 71,119,406 (GRCm39) missense probably damaging 0.99
limoncello UTSW 12 71,114,115 (GRCm39) splice site probably null
Sahara UTSW 12 71,106,889 (GRCm39) nonsense probably null
Under_8 UTSW 12 71,109,980 (GRCm39) missense probably benign 0.10
R0047:Arid4a UTSW 12 71,122,193 (GRCm39) missense probably damaging 1.00
R0047:Arid4a UTSW 12 71,122,193 (GRCm39) missense probably damaging 1.00
R0270:Arid4a UTSW 12 71,119,406 (GRCm39) missense probably damaging 0.99
R0310:Arid4a UTSW 12 71,122,604 (GRCm39) missense probably benign 0.05
R0504:Arid4a UTSW 12 71,093,988 (GRCm39) missense probably damaging 1.00
R1061:Arid4a UTSW 12 71,121,729 (GRCm39) missense probably damaging 1.00
R1087:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1169:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1171:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1531:Arid4a UTSW 12 71,122,779 (GRCm39) missense probably benign 0.01
R1674:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1676:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1768:Arid4a UTSW 12 71,122,112 (GRCm39) missense probably benign 0.01
R1833:Arid4a UTSW 12 71,122,240 (GRCm39) missense possibly damaging 0.50
R1878:Arid4a UTSW 12 71,134,363 (GRCm39) missense probably damaging 1.00
R2290:Arid4a UTSW 12 71,108,315 (GRCm39) missense probably damaging 1.00
R2292:Arid4a UTSW 12 71,108,315 (GRCm39) missense probably damaging 1.00
R2871:Arid4a UTSW 12 71,069,034 (GRCm39) critical splice donor site probably null
R2871:Arid4a UTSW 12 71,069,034 (GRCm39) critical splice donor site probably null
R3411:Arid4a UTSW 12 71,108,299 (GRCm39) splice site probably benign
R3768:Arid4a UTSW 12 71,113,893 (GRCm39) missense probably damaging 1.00
R3838:Arid4a UTSW 12 71,122,559 (GRCm39) missense possibly damaging 0.94
R4320:Arid4a UTSW 12 71,116,769 (GRCm39) missense possibly damaging 0.69
R4589:Arid4a UTSW 12 71,116,738 (GRCm39) missense probably damaging 1.00
R4829:Arid4a UTSW 12 71,070,272 (GRCm39) critical splice acceptor site probably null
R4862:Arid4a UTSW 12 71,122,721 (GRCm39) missense probably damaging 0.96
R4952:Arid4a UTSW 12 71,070,299 (GRCm39) missense possibly damaging 0.64
R5072:Arid4a UTSW 12 71,091,853 (GRCm39) missense probably benign 0.08
R5423:Arid4a UTSW 12 71,116,634 (GRCm39) nonsense probably null
R5767:Arid4a UTSW 12 71,106,867 (GRCm39) missense probably damaging 1.00
R5911:Arid4a UTSW 12 71,116,747 (GRCm39) missense probably damaging 1.00
R5952:Arid4a UTSW 12 71,109,980 (GRCm39) missense probably benign 0.10
R6088:Arid4a UTSW 12 71,069,010 (GRCm39) missense probably damaging 0.99
R6235:Arid4a UTSW 12 71,116,546 (GRCm39) splice site probably null
R6277:Arid4a UTSW 12 71,086,665 (GRCm39) missense possibly damaging 0.49
R6455:Arid4a UTSW 12 71,121,862 (GRCm39) missense probably benign 0.04
R6523:Arid4a UTSW 12 71,114,115 (GRCm39) splice site probably null
R6701:Arid4a UTSW 12 71,134,286 (GRCm39) missense probably damaging 1.00
R6812:Arid4a UTSW 12 71,094,037 (GRCm39) missense possibly damaging 0.92
R6815:Arid4a UTSW 12 71,063,856 (GRCm39) splice site probably null
R6837:Arid4a UTSW 12 71,122,289 (GRCm39) missense probably benign
R6858:Arid4a UTSW 12 71,070,283 (GRCm39) missense probably benign 0.01
R6895:Arid4a UTSW 12 71,110,076 (GRCm39) missense probably benign 0.18
R6901:Arid4a UTSW 12 71,113,911 (GRCm39) missense probably damaging 0.99
R6905:Arid4a UTSW 12 71,108,318 (GRCm39) missense probably benign 0.43
R7387:Arid4a UTSW 12 71,134,270 (GRCm39) missense probably damaging 1.00
R7570:Arid4a UTSW 12 71,109,916 (GRCm39) nonsense probably null
R7772:Arid4a UTSW 12 71,108,363 (GRCm39) missense possibly damaging 0.65
R8194:Arid4a UTSW 12 71,106,889 (GRCm39) nonsense probably null
R8552:Arid4a UTSW 12 71,106,849 (GRCm39) missense probably benign
R8696:Arid4a UTSW 12 71,110,090 (GRCm39) missense probably damaging 1.00
R9015:Arid4a UTSW 12 71,122,168 (GRCm39) missense possibly damaging 0.89
R9109:Arid4a UTSW 12 71,122,129 (GRCm39) missense probably damaging 1.00
R9450:Arid4a UTSW 12 71,119,374 (GRCm39) missense
Z1176:Arid4a UTSW 12 71,086,694 (GRCm39) missense possibly damaging 0.89
Z1177:Arid4a UTSW 12 71,122,411 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AAGTGTAATCTGCTCCTTCTGCTG -3'
(R):5'- CACAGAGATTTACATACAAGTGAGG -3'

Sequencing Primer
(F):5'- GTACTTGAGCCTTACATGGTTTACAG -3'
(R):5'- CATACAAGTGAGGAAAATTGATTTGG -3'
Posted On 2020-07-13