Incidental Mutation 'R1556:Arid5a'
Institutional Source Beutler Lab
Gene Symbol Arid5a
Ensembl Gene ENSMUSG00000037447
Gene NameAT rich interactive domain 5A (MRF1-like)
SynonymsD430024K22Rik, Mrf1
MMRRC Submission 039595-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.183) question?
Stock #R1556 (G1)
Quality Score207
Status Not validated
Chromosomal Location36307733-36324029 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 36320164 bp
Amino Acid Change Tyrosine to Stop codon at position 520 (Y520*)
Ref Sequence ENSEMBL: ENSMUSP00000117810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097778] [ENSMUST00000115029] [ENSMUST00000115031] [ENSMUST00000115032] [ENSMUST00000116629] [ENSMUST00000126413] [ENSMUST00000137906] [ENSMUST00000142319]
Predicted Effect probably null
Transcript: ENSMUST00000097778
AA Change: Y607*
SMART Domains Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: Y607*

ARID 76 167 4.69e-34 SMART
BRIGHT 80 172 8.63e-31 SMART
low complexity region 453 467 N/A INTRINSIC
low complexity region 512 522 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115029
AA Change: Y419*
SMART Domains Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: Y419*

Blast:ARID 1 85 6e-24 BLAST
low complexity region 265 279 N/A INTRINSIC
low complexity region 324 334 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115031
AA Change: Y672*
SMART Domains Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: Y672*

ARID 46 232 1.82e-31 SMART
Blast:ARID 281 338 6e-11 BLAST
low complexity region 518 532 N/A INTRINSIC
low complexity region 577 587 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115032
AA Change: Y578*
SMART Domains Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: Y578*

ARID 47 138 4.69e-34 SMART
BRIGHT 51 143 8.63e-31 SMART
low complexity region 424 438 N/A INTRINSIC
low complexity region 483 493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116629
SMART Domains Protein: ENSMUSP00000136037
Gene: ENSMUSG00000037447

Blast:ARID 22 55 8e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124280
Predicted Effect probably benign
Transcript: ENSMUST00000126413
SMART Domains Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447

ARID 46 137 4.69e-34 SMART
BRIGHT 50 142 8.63e-31 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137906
AA Change: Y520*
SMART Domains Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: Y520*

SCOP:d1ig6a_ 41 98 7e-19 SMART
PDB:2OEH|A 42 98 2e-26 PDB
Blast:ARID 42 186 4e-50 BLAST
low complexity region 366 380 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141121
Predicted Effect probably benign
Transcript: ENSMUST00000142319
SMART Domains Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447

SCOP:d1kkxa_ 49 81 3e-9 SMART
Blast:ARID 56 121 2e-41 BLAST
PDB:2OEH|A 56 121 2e-9 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150747
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced serum interleukin-6 and tumor necrosis factor levels following LPS treatment, and decreased susceptibility to experimental autoimmune encephalomyelitis along with decreased T-helper 17 cell number and increased IFN-gamma producing T cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,449,633 S302P probably damaging Het
Anapc1 T C 2: 128,624,899 T1626A probably benign Het
Arhgef6 T C X: 57,338,562 M5V probably benign Het
Aven G A 2: 112,630,885 M215I probably damaging Het
Cabyr A G 18: 12,744,780 D58G probably damaging Het
Ccdc146 A G 5: 21,330,553 Y168H probably damaging Het
Ccnd2 A T 6: 127,130,400 S269T probably benign Het
Cd68 T A 11: 69,665,850 T44S probably damaging Het
Clstn2 A T 9: 97,456,505 I867N probably benign Het
Cmss1 C T 16: 57,316,197 R104H probably benign Het
Col6a6 A G 9: 105,709,473 V1783A possibly damaging Het
Dach2 T C X: 113,298,517 S31P probably benign Het
Dpp8 T A 9: 65,051,479 W279R probably damaging Het
Fras1 A T 5: 96,743,062 I2817F possibly damaging Het
Gabrr3 G A 16: 59,461,400 D373N probably benign Het
Gdf7 T C 12: 8,301,698 N79S unknown Het
Gpam A G 19: 55,076,331 V647A possibly damaging Het
Gpatch1 T C 7: 35,295,351 T497A probably benign Het
Grin2a A T 16: 9,707,715 F337L probably benign Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
H2-Aa A T 17: 34,284,416 V69D possibly damaging Het
H2-M10.5 T C 17: 36,773,313 Y56H probably damaging Het
Kcnu1 G A 8: 25,861,191 probably null Het
Krt77 A G 15: 101,861,278 S386P probably damaging Het
L3mbtl2 T A 15: 81,682,002 M342K probably benign Het
Ldlrad1 A G 4: 107,217,813 T186A probably benign Het
Lins1 C A 7: 66,710,637 C168* probably null Het
Lrrtm3 G A 10: 64,088,149 T413M probably damaging Het
Macf1 T C 4: 123,455,020 D4038G probably damaging Het
Mark3 T G 12: 111,627,841 N308K probably damaging Het
Mdga2 T A 12: 66,550,593 Y709F possibly damaging Het
Mtus2 T A 5: 148,077,388 S330R probably benign Het
Olfr59 T A 11: 74,288,936 C97S probably damaging Het
Olfr645 T A 7: 104,084,261 H273L probably benign Het
Olfr726 G A 14: 50,084,459 A74V possibly damaging Het
Olfr809 T C 10: 129,776,373 V168A probably benign Het
Ovgp1 A G 3: 105,986,752 probably benign Het
P4ha2 A G 11: 54,125,010 T408A probably damaging Het
Pcdh8 T G 14: 79,770,403 D240A probably damaging Het
Pcyt2 T C 11: 120,612,085 probably null Het
Pecr T A 1: 72,259,383 I293L probably benign Het
Pogk A G 1: 166,398,833 V583A possibly damaging Het
Prkg1 T C 19: 30,624,743 K371R probably benign Het
Psmd2 T A 16: 20,655,585 M297K possibly damaging Het
Rgs12 A G 5: 35,039,282 R769G possibly damaging Het
Sgtb T A 13: 104,139,776 N237K probably damaging Het
Sh3bgrl2 T C 9: 83,594,698 V91A probably damaging Het
Slc4a1ap G A 5: 31,534,210 probably null Het
Slc4a7 T C 14: 14,778,872 V940A probably benign Het
Tep1 T C 14: 50,853,042 T740A probably benign Het
Tnk2 G T 16: 32,670,919 probably null Het
Trpv2 A G 11: 62,592,233 Y450C probably damaging Het
Tvp23a A T 16: 10,446,998 D16E probably damaging Het
Twnk T C 19: 45,009,411 F460L possibly damaging Het
Unc80 C T 1: 66,521,581 H823Y possibly damaging Het
Urb2 T C 8: 124,030,617 L1021P probably damaging Het
Vps13c T C 9: 67,930,711 Y1848H probably damaging Het
Vwa8 T G 14: 79,086,681 N1141K probably benign Het
Yipf3 A G 17: 46,250,867 Y200C probably damaging Het
Zbtb38 A G 9: 96,686,991 V680A probably benign Het
Zcchc6 T C 13: 59,800,240 T354A probably benign Het
Znrf3 T C 11: 5,281,347 E722G probably benign Het
Zzef1 T A 11: 72,915,233 L2665H probably damaging Het
Other mutations in Arid5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Arid5a APN 1 36319433 missense possibly damaging 0.54
IGL02000:Arid5a APN 1 36319497 missense probably damaging 1.00
IGL02322:Arid5a APN 1 36319416 missense probably benign 0.09
PIT4504001:Arid5a UTSW 1 36317625 missense probably damaging 1.00
R0063:Arid5a UTSW 1 36318564 missense probably damaging 1.00
R0063:Arid5a UTSW 1 36318564 missense probably damaging 1.00
R1703:Arid5a UTSW 1 36319575 unclassified probably null
R2424:Arid5a UTSW 1 36318501 missense probably damaging 1.00
R4583:Arid5a UTSW 1 36317664 critical splice donor site probably null
R5725:Arid5a UTSW 1 36319130 nonsense probably null
R6056:Arid5a UTSW 1 36319392 missense probably benign 0.01
R7023:Arid5a UTSW 1 36317550 unclassified probably benign
X0020:Arid5a UTSW 1 36319575 unclassified probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-04-13