Incidental Mutation 'R0063:Arid5a'
ID 43755
Institutional Source Beutler Lab
Gene Symbol Arid5a
Ensembl Gene ENSMUSG00000037447
Gene Name AT-rich interaction domain 5A
Synonyms D430024K22Rik, Mrf1
MMRRC Submission 038355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R0063 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 36346814-36363110 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36357645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 252 (Y252N)
Ref Sequence ENSEMBL: ENSMUSP00000110683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097778] [ENSMUST00000115029] [ENSMUST00000115031] [ENSMUST00000115032] [ENSMUST00000116629] [ENSMUST00000126413] [ENSMUST00000137906] [ENSMUST00000142319]
AlphaFold Q3U108
Predicted Effect probably damaging
Transcript: ENSMUST00000097778
AA Change: Y187N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: Y187N

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000115029
SMART Domains Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115031
AA Change: Y252N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: Y252N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115032
AA Change: Y158N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: Y158N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:ARID 22 55 8e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124280
Predicted Effect probably damaging
Transcript: ENSMUST00000126413
AA Change: Y157N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447
AA Change: Y157N

DomainStartEndE-ValueType
ARID 46 137 4.69e-34 SMART
BRIGHT 50 142 8.63e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000137906
AA Change: Y100N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: Y100N

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000147123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145179
Predicted Effect probably benign
Transcript: ENSMUST00000142319
SMART Domains Protein: ENSMUSP00000119953
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
SCOP:d1kkxa_ 49 81 3e-9 SMART
Blast:ARID 56 121 2e-41 BLAST
PDB:2OEH|A 56 121 2e-9 PDB
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency 97% (69/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik C T 16: 4,678,912 (GRCm39) R245* probably null Het
4930563I02Rik T A 14: 60,333,477 (GRCm39) probably benign Het
Acss1 T C 2: 150,469,212 (GRCm39) T435A probably damaging Het
Aoc2 T A 11: 101,216,897 (GRCm39) S327T probably damaging Het
AU040320 T C 4: 126,733,465 (GRCm39) Y662H probably damaging Het
B4gat1 T A 19: 5,089,735 (GRCm39) L244* probably null Het
Bcam C T 7: 19,500,773 (GRCm39) V134I probably benign Het
Btbd16 A T 7: 130,424,896 (GRCm39) T426S probably benign Het
Btn1a1 C T 13: 23,649,267 (GRCm39) probably null Het
Cap2 T C 13: 46,791,508 (GRCm39) probably benign Het
Capn8 T A 1: 182,429,677 (GRCm39) D299E probably damaging Het
Cdipt G A 7: 126,578,772 (GRCm39) V160I probably benign Het
Cep164 A G 9: 45,679,916 (GRCm39) S1267P possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Col3a1 T C 1: 45,369,701 (GRCm39) probably benign Het
Cyb5r3 T C 15: 83,046,137 (GRCm39) T60A probably benign Het
Dgkb T G 12: 38,654,112 (GRCm39) S744A probably benign Het
Dock2 T A 11: 34,647,111 (GRCm39) probably null Het
Ece1 C T 4: 137,675,892 (GRCm39) T422M probably benign Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Elapor2 T C 5: 9,490,709 (GRCm39) probably benign Het
Eml3 C A 19: 8,915,842 (GRCm39) A644D probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Foxp1 A G 6: 98,921,684 (GRCm39) probably benign Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Il17rd G A 14: 26,804,690 (GRCm39) C88Y probably damaging Het
Il17rd C A 14: 26,804,691 (GRCm39) C88* probably null Het
Ino80c A G 18: 24,239,681 (GRCm39) F160S probably damaging Het
Ints8 T C 4: 11,252,857 (GRCm39) N75S probably damaging Het
Irf2bp1 C T 7: 18,739,772 (GRCm39) R471C possibly damaging Het
Irs1 T A 1: 82,266,580 (GRCm39) E545D probably damaging Het
Lama3 T C 18: 12,661,762 (GRCm39) probably benign Het
Mast4 C A 13: 103,470,723 (GRCm39) probably benign Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Nat8f2 A T 6: 85,844,815 (GRCm39) S182R possibly damaging Het
Nrcam G T 12: 44,596,811 (GRCm39) V343F possibly damaging Het
Opn5 T C 17: 42,907,517 (GRCm39) S120G probably damaging Het
Pdk2 T C 11: 94,923,306 (GRCm39) H106R probably benign Het
Pkhd1 G A 1: 20,282,174 (GRCm39) T2889I probably benign Het
Pkhd1l1 T A 15: 44,392,633 (GRCm39) L1656H probably damaging Het
Plxna2 A T 1: 194,327,247 (GRCm39) T394S probably benign Het
Pnpla8 T A 12: 44,329,615 (GRCm39) C56S probably damaging Het
Prdm8 G T 5: 98,332,453 (GRCm39) R118L probably damaging Het
Prkce T C 17: 86,789,539 (GRCm39) probably benign Het
Ptprk T A 10: 28,139,763 (GRCm39) Y163N probably damaging Het
Rbbp8 T A 18: 11,867,614 (GRCm39) probably benign Het
Rnh1 A T 7: 140,744,109 (GRCm39) probably null Het
Rtn4 T A 11: 29,655,527 (GRCm39) probably benign Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Slc2a2 T C 3: 28,771,589 (GRCm39) M173T probably damaging Het
Slc2a8 T A 2: 32,870,011 (GRCm39) probably null Het
Tdpoz1 A T 3: 93,578,121 (GRCm39) M221K probably benign Het
Tgm7 G T 2: 120,924,577 (GRCm39) H533Q probably benign Het
Timm29 C A 9: 21,504,304 (GRCm39) A17E probably benign Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tmem89 A G 9: 108,743,880 (GRCm39) N60S probably benign Het
Tpx2 A G 2: 152,722,043 (GRCm39) T212A probably damaging Het
Trio G T 15: 27,881,523 (GRCm39) probably benign Het
Tulp2 T C 7: 45,170,284 (GRCm39) probably benign Het
Uggt2 A G 14: 119,244,542 (GRCm39) probably benign Het
Vmn2r5 T A 3: 64,411,221 (GRCm39) E449V probably benign Het
Vwa8 A G 14: 79,401,656 (GRCm39) probably benign Het
Xirp2 A G 2: 67,339,427 (GRCm39) D556G probably damaging Het
Xrn1 T C 9: 95,851,588 (GRCm39) L202P probably damaging Het
Zfp354a A T 11: 50,960,398 (GRCm39) H203L probably damaging Het
Zfp53 A C 17: 21,728,367 (GRCm39) R133S probably benign Het
Zfp787 C T 7: 6,135,322 (GRCm39) probably null Het
Other mutations in Arid5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Arid5a APN 1 36,358,514 (GRCm39) missense possibly damaging 0.54
IGL02000:Arid5a APN 1 36,358,578 (GRCm39) missense probably damaging 1.00
IGL02322:Arid5a APN 1 36,358,497 (GRCm39) missense probably benign 0.09
PIT4504001:Arid5a UTSW 1 36,356,706 (GRCm39) missense probably damaging 1.00
R0063:Arid5a UTSW 1 36,357,645 (GRCm39) missense probably damaging 1.00
R1556:Arid5a UTSW 1 36,359,245 (GRCm39) nonsense probably null
R1703:Arid5a UTSW 1 36,358,656 (GRCm39) splice site probably null
R2424:Arid5a UTSW 1 36,357,582 (GRCm39) missense probably damaging 1.00
R4583:Arid5a UTSW 1 36,356,745 (GRCm39) critical splice donor site probably null
R5725:Arid5a UTSW 1 36,358,211 (GRCm39) nonsense probably null
R6056:Arid5a UTSW 1 36,358,473 (GRCm39) missense probably benign 0.01
R7023:Arid5a UTSW 1 36,356,631 (GRCm39) unclassified probably benign
R7996:Arid5a UTSW 1 36,356,526 (GRCm39) missense unknown
R8739:Arid5a UTSW 1 36,358,677 (GRCm39) missense probably benign 0.02
R9072:Arid5a UTSW 1 36,358,626 (GRCm39) missense probably benign 0.01
R9073:Arid5a UTSW 1 36,358,626 (GRCm39) missense probably benign 0.01
R9398:Arid5a UTSW 1 36,358,073 (GRCm39) missense probably benign 0.08
R9583:Arid5a UTSW 1 36,356,739 (GRCm39) missense possibly damaging 0.82
R9679:Arid5a UTSW 1 36,357,648 (GRCm39) missense possibly damaging 0.89
X0020:Arid5a UTSW 1 36,358,656 (GRCm39) splice site probably null
Z1176:Arid5a UTSW 1 36,358,436 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCGACAGATGAGCTATTTGTGCCAG -3'
(R):5'- TGTTCCAAGCAGGAGTCAGAAGCC -3'

Sequencing Primer
(F):5'- ATATGTGCCACGAGCTGTGTC -3'
(R):5'- TGTAAGAGCAACCCCACCATG -3'
Posted On 2013-05-29