Incidental Mutation 'R1676:Arid4a'
ID 188107
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 039712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1676 (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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cemip T A 7: 83,613,246 (GRCm39) I651F possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Emilin2 T C 17: 71,581,085 (GRCm39) D547G probably benign Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Jmjd1c T A 10: 67,060,588 (GRCm39) D693E probably benign Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rapgef3 C T 15: 97,659,063 (GRCm39) G101E probably benign Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S 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
R1674: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