Incidental Mutation 'R5952:Arid4a'
ID 470966
Institutional Source Beutler Lab
Gene Symbol Arid4a
Ensembl Gene ENSMUSG00000048118
Gene Name AT-rich interaction domain 4A
Synonyms A630067N03Rik, Rbbp1
MMRRC Submission 044142-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5952 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 71062764-71145366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71109980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
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: D429G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035512
Gene: ENSMUSG00000048118
AA Change: D429G

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 noncoding transcript
Transcript: ENSMUST00000134718
Predicted Effect probably benign
Transcript: ENSMUST00000135709
AA Change: D107G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121319
Gene: ENSMUSG00000048118
AA Change: D107G

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 91% (62/68)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,086,728 (GRCm39) D296V probably damaging Het
Ak9 A G 10: 41,233,559 (GRCm39) E599G possibly damaging Het
Ank3 A T 10: 69,822,293 (GRCm39) I1604F probably benign Het
Bltp1 A G 3: 37,019,770 (GRCm39) T2060A probably damaging Het
Btn2a2 A T 13: 23,666,978 (GRCm39) I209N probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Csmd3 A G 15: 47,596,901 (GRCm39) V1979A probably damaging Het
Cyp4a12b C T 4: 115,271,714 (GRCm39) R142* probably null Het
Ddx23 A T 15: 98,556,121 (GRCm39) S66T unknown Het
Efcab2 A G 1: 178,303,439 (GRCm39) K121R probably benign Het
Epb41l1 T A 2: 156,345,708 (GRCm39) V237D probably damaging Het
Epb41l1 G T 2: 156,366,903 (GRCm39) A579S probably benign Het
Epn1 G A 7: 5,096,911 (GRCm39) R231H probably damaging Het
Fbrs T C 7: 127,086,924 (GRCm39) S649P probably damaging Het
Fezf1 A G 6: 23,247,427 (GRCm39) V216A probably benign Het
Gen1 A T 12: 11,310,897 (GRCm39) S112T probably damaging Het
Glrx2 A G 1: 143,620,872 (GRCm39) N84D probably benign Het
Gm1818 T G 12: 48,602,719 (GRCm39) noncoding transcript Het
Hira C A 16: 18,753,815 (GRCm39) T553K possibly damaging Het
Hnrnph3 A G 10: 62,851,374 (GRCm39) probably benign Het
Ighv12-3 A T 12: 114,330,204 (GRCm39) F97Y probably benign Het
Jcad A G 18: 4,674,554 (GRCm39) Q772R probably damaging Het
Lamb3 A G 1: 193,014,670 (GRCm39) T610A probably benign Het
Map3k19 T C 1: 127,750,477 (GRCm39) D958G probably benign Het
Map4k4 G A 1: 40,039,082 (GRCm39) probably benign Het
Mocos T C 18: 24,834,444 (GRCm39) V827A possibly damaging Het
Ms4a10 T A 19: 10,941,486 (GRCm39) D161V probably damaging Het
Myh9 A G 15: 77,657,532 (GRCm39) I1071T possibly damaging Het
Myo15a A G 11: 60,370,246 (GRCm39) E1002G possibly damaging Het
Neurod6 G A 6: 55,656,002 (GRCm39) H212Y probably damaging Het
Or2v1 A T 11: 49,025,399 (GRCm39) I95F probably damaging Het
Or52z13 T A 7: 103,247,174 (GRCm39) I217N probably damaging Het
Or5b12 T C 19: 12,897,194 (GRCm39) N160D probably benign Het
Pcdhb17 T C 18: 37,620,133 (GRCm39) V641A probably benign Het
Ppp3ca A T 3: 136,634,332 (GRCm39) M431L probably benign Het
Ptprk A T 10: 28,461,671 (GRCm39) I69F probably damaging Het
Rab34 G T 11: 78,081,094 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,318,406 (GRCm39) N619S probably benign Het
Rnf169 T C 7: 99,574,840 (GRCm39) H585R probably damaging Het
Rps6kc1 A G 1: 190,617,617 (GRCm39) V129A probably benign Het
Siglecf C T 7: 43,005,351 (GRCm39) T437M probably benign Het
Slc25a2 T C 18: 37,771,335 (GRCm39) N65D probably benign Het
Spire1 A G 18: 67,639,779 (GRCm39) S245P probably benign Het
Sptb A T 12: 76,679,158 (GRCm39) M99K probably benign Het
Tacc1 G T 8: 25,672,011 (GRCm39) L406I possibly damaging Het
Tas2r140 T C 6: 40,468,476 (GRCm39) I102T probably benign Het
Trappc11 A T 8: 47,949,952 (GRCm39) probably null Het
Trbv11 A G 6: 41,084,153 (GRCm39) noncoding transcript Het
Trmt11 A G 10: 30,436,838 (GRCm39) Y301H probably benign Het
Tspo A G 15: 83,456,441 (GRCm39) T75A possibly damaging Het
Ttn T C 2: 76,710,569 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,462,030 (GRCm39) Q1210R probably damaging Het
Zhx3 A T 2: 160,623,937 (GRCm39) Y77N probably 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
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
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'- GCTCAGGTTTTACTACACATTTACC -3'
(R):5'- GACTGCTCTAATAACCTTGAAGC -3'

Sequencing Primer
(F):5'- TTTTGAGGAGTACTGCCG -3'
(R):5'- AGTATGCACATACATTAAAATGCCC -3'
Posted On 2017-03-31