Incidental Mutation 'R1674:Arid4a'
ID 187937
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 039710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1674 (G1)
Quality Score 225
Status 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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (91/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
5430401F13Rik A T 6: 131,529,766 (GRCm39) Q120L unknown Het
Akirin1 A G 4: 123,637,256 (GRCm39) S110P possibly damaging Het
Ankmy2 T A 12: 36,237,668 (GRCm39) S256T probably benign Het
Areg T C 5: 91,291,485 (GRCm39) F143L probably damaging Het
Arhgap42 A G 9: 9,006,585 (GRCm39) S604P probably damaging Het
Arid1a A G 4: 133,416,571 (GRCm39) V1068A unknown Het
Atoh1 T G 6: 64,706,914 (GRCm39) I203S possibly damaging Het
Atp5mg T C 9: 44,825,957 (GRCm39) T69A possibly damaging Het
Baz1b A G 5: 135,233,965 (GRCm39) E164G probably damaging Het
Baz2b A T 2: 59,743,336 (GRCm39) V1545E possibly damaging Het
Best1 A G 19: 9,970,590 (GRCm39) probably null Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Ccdc13 T C 9: 121,638,208 (GRCm39) T26A probably damaging Het
Ccr6 A T 17: 8,475,049 (GRCm39) I85L probably damaging Het
Cdh10 A T 15: 18,985,152 (GRCm39) N272I probably benign Het
Cdh10 T A 15: 19,013,416 (GRCm39) I672K probably damaging Het
Cdk17 A T 10: 93,057,492 (GRCm39) E163V probably benign Het
Chsy1 T C 7: 65,821,411 (GRCm39) F549L probably damaging Het
CN725425 T C 15: 91,131,124 (GRCm39) Y420H possibly damaging Het
Cpt1b A T 15: 89,306,535 (GRCm39) M281K possibly damaging Het
Crlf2 A G 5: 109,706,669 (GRCm39) probably null Het
Ctif T C 18: 75,770,251 (GRCm39) T45A probably benign Het
Ddx31 T C 2: 28,748,828 (GRCm39) F252S probably damaging Het
Dennd2d T C 3: 106,399,833 (GRCm39) I242T probably benign Het
Dennd5b A G 6: 148,899,782 (GRCm39) F1205S probably damaging Het
Dop1a T C 9: 86,418,213 (GRCm39) S1981P probably damaging Het
Dsg1b A T 18: 20,532,578 (GRCm39) T541S probably benign Het
Dst T A 1: 34,262,876 (GRCm39) probably null Het
Dysf T C 6: 84,156,697 (GRCm39) V1508A probably benign Het
Erf A T 7: 24,944,731 (GRCm39) L200Q possibly damaging Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Esrrb C T 12: 86,561,225 (GRCm39) L320F probably damaging Het
Fap T A 2: 62,349,349 (GRCm39) D508V probably benign Het
Fdft1 A C 14: 63,402,034 (GRCm39) N48K probably benign Het
Fdps A G 3: 89,008,037 (GRCm39) V94A probably benign Het
Fes A T 7: 80,027,686 (GRCm39) H819Q probably benign Het
Foxd1 G T 13: 98,491,347 (GRCm39) D74Y unknown Het
Gm136 A T 4: 34,746,662 (GRCm39) probably benign Het
Gm5919 T A 9: 83,765,338 (GRCm39) L58* probably null Het
Gm6871 C T 7: 41,223,059 (GRCm39) V10I possibly damaging Het
Isy1 T C 6: 87,811,469 (GRCm39) R29G probably damaging Het
Kif16b T A 2: 142,554,873 (GRCm39) K653* probably null Het
Kif17 A G 4: 138,028,569 (GRCm39) T706A probably benign Het
Kif18b G T 11: 102,803,886 (GRCm39) P425T probably benign Het
Lama1 T A 17: 68,098,239 (GRCm39) V1812E probably benign Het
Lama5 A G 2: 179,843,780 (GRCm39) V430A probably benign Het
Lclat1 A G 17: 73,546,776 (GRCm39) E231G probably damaging Het
Lig4 T C 8: 10,021,692 (GRCm39) D696G probably benign Het
Mylpf T A 7: 126,813,309 (GRCm39) V151E probably damaging Het
Naa16 A T 14: 79,624,497 (GRCm39) M1K probably null Het
Ndufaf6 T C 4: 11,070,264 (GRCm39) K119R probably benign Het
Nt5c1b T C 12: 10,420,055 (GRCm39) probably benign Het
Or14a260 G A 7: 85,984,765 (GRCm39) P280S probably damaging Het
Or4a27 A G 2: 88,559,601 (GRCm39) V114A probably damaging Het
Or5t17 T C 2: 86,832,577 (GRCm39) V88A probably benign Het
Or8k33 T A 2: 86,384,204 (GRCm39) D88V probably damaging Het
Or9i16 T A 19: 13,864,954 (GRCm39) I207L probably benign Het
Otud4 A G 8: 80,399,776 (GRCm39) N830S probably benign Het
Pdcd10 A C 3: 75,448,486 (GRCm39) M26R probably damaging Het
Pitpnc1 A G 11: 107,117,071 (GRCm39) V223A possibly damaging Het
Pkp2 A G 16: 16,058,422 (GRCm39) D368G possibly damaging Het
Pla1a A T 16: 38,235,172 (GRCm39) M174K probably benign Het
Polr2b A G 5: 77,474,470 (GRCm39) K436E possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rdh16 A G 10: 127,637,226 (GRCm39) M54V probably benign Het
Sall2 C A 14: 52,551,293 (GRCm39) C632F probably damaging Het
Sart1 T A 19: 5,435,853 (GRCm39) I120F probably damaging Het
Slco1a1 A T 6: 141,881,661 (GRCm39) M157K probably damaging Het
Snapc4 T C 2: 26,266,209 (GRCm39) T178A probably benign Het
Sox6 T C 7: 115,400,654 (GRCm39) I63V probably benign Het
Spin1 T A 13: 51,303,135 (GRCm39) Y243N probably damaging Het
Stmnd1 T C 13: 46,453,097 (GRCm39) Y258H possibly damaging Het
Tex13b A T X: 139,710,819 (GRCm39) N184K probably benign Het
Tgm5 T C 2: 120,902,025 (GRCm39) T215A possibly damaging Het
Tnks2 A G 19: 36,849,022 (GRCm39) T165A probably benign Het
Top2a A T 11: 98,900,099 (GRCm39) F667Y probably damaging Het
Tpo T C 12: 30,150,567 (GRCm39) M438V probably benign Het
Tyw1 A G 5: 130,298,169 (GRCm39) R237G probably benign Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Unc80 A C 1: 66,548,467 (GRCm39) T580P probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Utp18 A G 11: 93,766,879 (GRCm39) probably null Het
Vmn1r23 T C 6: 57,903,046 (GRCm39) D244G possibly damaging Het
Vps13c T A 9: 67,760,985 (GRCm39) L51* probably null Het
Xpnpep3 A G 15: 81,314,968 (GRCm39) T223A probably benign Het
Zfp28 T A 7: 6,397,942 (GRCm39) H792Q possibly damaging Het
Zfp804a A G 2: 82,089,168 (GRCm39) K999R probably benign Het
Zkscan16 G A 4: 58,948,918 (GRCm39) V158M 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
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
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 PCR Primer
(F):5'- TCATCTGATAGTGAGGCAGACGACC -3'
(R):5'- ATCGTCAGACCTCTCTTGGGACAC -3'

Sequencing Primer
(F):5'- GGACAGCGATCAAATTGTGC -3'
(R):5'- GGGACACTCCAGTTGTCATTTC -3'
Posted On 2014-05-09