Incidental Mutation 'R1171:Arid4a'
ID 99453
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1171 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 71062764-71145366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71122112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 509 (S509N)
Ref Sequence ENSEMBL: ENSMUSP00000121319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046305] [ENSMUST00000135709]
AlphaFold F8VPQ2
Predicted Effect probably benign
Transcript: ENSMUST00000046305
AA Change: S831N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: S831N

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
Predicted Effect probably benign
Transcript: ENSMUST00000135709
AA Change: S509N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: S509N

DomainStartEndE-ValueType
ARID 1 75 1.02e-16 SMART
BRIGHT 1 80 2.05e-23 SMART
low complexity region 89 100 N/A INTRINSIC
CHROMO 161 330 1.08e-3 SMART
low complexity region 368 385 N/A INTRINSIC
Meta Mutation Damage Score 0.0691 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly damaging 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
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
R8206:Arid4a UTSW 12 71,133,361 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-01-15