Incidental Mutation 'IGL01432:Arid5a'
ID 84188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid5a
Ensembl Gene ENSMUSG00000037447
Gene Name AT-rich interaction domain 5A
Synonyms D430024K22Rik, Mrf1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL01432
Quality Score
Status
Chromosome 1
Chromosomal Location 36346814-36363110 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 36358514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 429 (S429A)
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 benign
Transcript: ENSMUST00000097778
AA Change: S364A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000095385
Gene: ENSMUSG00000037447
AA Change: S364A

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
AA Change: S176A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110681
Gene: ENSMUSG00000037447
AA Change: S176A

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 possibly damaging
Transcript: ENSMUST00000115031
AA Change: S429A

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110683
Gene: ENSMUSG00000037447
AA Change: S429A

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 benign
Transcript: ENSMUST00000115032
AA Change: S335A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110684
Gene: ENSMUSG00000037447
AA Change: S335A

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 benign
Transcript: ENSMUST00000126413
SMART Domains Protein: ENSMUSP00000115490
Gene: ENSMUSG00000037447

DomainStartEndE-ValueType
ARID 46 137 4.69e-34 SMART
BRIGHT 50 142 8.63e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137906
AA Change: S277A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117810
Gene: ENSMUSG00000037447
AA Change: S277A

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: ENSMUST00000145179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150747
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
Coding Region Coverage
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Arid5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-11