Incidental Mutation 'IGL02563:Arid3a'
ID 298742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid3a
Ensembl Gene ENSMUSG00000019564
Gene Name AT-rich interaction domain 3A
Synonyms Dri1, Bright
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02563
Quality Score
Status
Chromosome 10
Chromosomal Location 79762877-79790852 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79786717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 490 (M490K)
Ref Sequence ENSEMBL: ENSMUSP00000101015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019708] [ENSMUST00000105376] [ENSMUST00000105377]
AlphaFold Q62431
Predicted Effect probably damaging
Transcript: ENSMUST00000019708
AA Change: M490K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019708
Gene: ENSMUSG00000019564
AA Change: M490K

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 27 34 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
coiled coil region 133 167 N/A INTRINSIC
ARID 240 331 2.1e-36 SMART
BRIGHT 244 336 7.73e-42 SMART
coiled coil region 436 462 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
low complexity region 555 583 N/A INTRINSIC
low complexity region 588 599 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105376
AA Change: M490K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101015
Gene: ENSMUSG00000019564
AA Change: M490K

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 27 34 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
coiled coil region 133 167 N/A INTRINSIC
ARID 240 331 2.1e-36 SMART
BRIGHT 244 336 7.73e-42 SMART
coiled coil region 436 462 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
low complexity region 555 583 N/A INTRINSIC
low complexity region 588 599 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105377
AA Change: M488K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101016
Gene: ENSMUSG00000019564
AA Change: M488K

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 27 34 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
coiled coil region 133 167 N/A INTRINSIC
ARID 240 331 2.1e-36 SMART
BRIGHT 244 336 7.73e-42 SMART
coiled coil region 434 460 N/A INTRINSIC
low complexity region 539 550 N/A INTRINSIC
low complexity region 553 581 N/A INTRINSIC
low complexity region 586 597 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135005
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E13.5 due to impaired erythropoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,410 (GRCm39) V97E probably damaging Het
Abhd16a C T 17: 35,320,221 (GRCm39) T362M probably damaging Het
Adam23 T G 1: 63,607,136 (GRCm39) probably benign Het
Apeh C A 9: 107,970,908 (GRCm39) R87L possibly damaging Het
Atp6v1b1 T A 6: 83,732,433 (GRCm39) V251D probably benign Het
Cog8 C T 8: 107,783,055 (GRCm39) R78Q possibly damaging Het
Cyld T C 8: 89,462,522 (GRCm39) I701T probably damaging Het
Dmgdh A G 13: 93,811,047 (GRCm39) probably benign Het
Dnm1 T C 2: 32,205,931 (GRCm39) probably null Het
Dop1b T A 16: 93,574,293 (GRCm39) V2D probably damaging Het
Dusp22 A T 13: 30,889,628 (GRCm39) S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 (GRCm39) Q3415R possibly damaging Het
Dysf T C 6: 84,163,498 (GRCm39) probably benign Het
Fam114a1 G A 5: 65,163,491 (GRCm39) probably null Het
Fam20a T A 11: 109,568,620 (GRCm39) Q302L possibly damaging Het
Fancm T A 12: 65,139,236 (GRCm39) L374H probably damaging Het
Fcgbpl1 G A 7: 27,857,317 (GRCm39) E2222K probably benign Het
Fgf17 G A 14: 70,874,178 (GRCm39) Q204* probably null Het
Gap43 T C 16: 42,112,495 (GRCm39) T89A probably benign Het
Gm5069 A G 1: 180,155,464 (GRCm39) probably benign Het
Gm9913 C T 2: 125,348,254 (GRCm39) probably benign Het
Gpr174 T C X: 106,336,854 (GRCm39) L222P probably benign Het
Grid2 A T 6: 64,322,857 (GRCm39) Q619L possibly damaging Het
Hoxc13 A G 15: 102,830,233 (GRCm39) D204G possibly damaging Het
Itgav T C 2: 83,601,580 (GRCm39) V317A probably benign Het
Keg1 A T 19: 12,696,521 (GRCm39) N288I probably damaging Het
Ksr1 C T 11: 78,935,684 (GRCm39) V234I possibly damaging Het
Lrp1 T A 10: 127,387,555 (GRCm39) D3365V probably damaging Het
Luc7l3 A T 11: 94,190,894 (GRCm39) probably null Het
Mta2 T C 19: 8,925,415 (GRCm39) I348T probably benign Het
Nphp4 A G 4: 152,640,677 (GRCm39) I1015V probably benign Het
Nup214 C T 2: 31,867,872 (GRCm39) S113F probably damaging Het
Or4f7 T C 2: 111,644,162 (GRCm39) K303R probably benign Het
Pabpn1l T A 8: 123,347,122 (GRCm39) T228S probably damaging Het
Paxx T C 2: 25,349,674 (GRCm39) *206W probably null Het
Pcdhb10 A G 18: 37,546,126 (GRCm39) T401A probably benign Het
Ppp1r3a A C 6: 14,719,761 (GRCm39) D384E probably benign Het
Rif1 T C 2: 51,967,077 (GRCm39) V122A probably damaging Het
Scn4b T C 9: 45,057,980 (GRCm39) L24P probably damaging Het
Sec22c T C 9: 121,513,716 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,289,207 (GRCm39) D676G probably damaging Het
Slc20a1 A G 2: 129,049,604 (GRCm39) T289A probably benign Het
Tekt2 T C 4: 126,218,418 (GRCm39) D84G possibly damaging Het
Tgfbr2 T A 9: 115,959,066 (GRCm39) N116I probably benign Het
Tmem196 A G 12: 119,910,209 (GRCm39) M1V probably null Het
Tnn A G 1: 159,942,123 (GRCm39) V1125A probably damaging Het
Vmn2r51 A T 7: 9,834,243 (GRCm39) M265K probably benign Het
Zfp319 T C 8: 96,050,362 (GRCm39) probably benign Het
Zfp65 A T 13: 67,856,184 (GRCm39) V365E possibly damaging Het
Zp3 T A 5: 136,016,464 (GRCm39) probably null Het
Other mutations in Arid3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Arid3a APN 10 79,786,468 (GRCm39) missense probably damaging 0.98
IGL03144:Arid3a APN 10 79,782,316 (GRCm39) splice site probably benign
IGL03228:Arid3a APN 10 79,786,578 (GRCm39) missense possibly damaging 0.80
IGL03347:Arid3a APN 10 79,787,113 (GRCm39) missense possibly damaging 0.65
R0049:Arid3a UTSW 10 79,766,899 (GRCm39) missense possibly damaging 0.66
R0408:Arid3a UTSW 10 79,786,667 (GRCm39) missense probably benign 0.00
R0479:Arid3a UTSW 10 79,787,128 (GRCm39) missense possibly damaging 0.80
R1938:Arid3a UTSW 10 79,786,540 (GRCm39) missense probably damaging 0.99
R2190:Arid3a UTSW 10 79,782,365 (GRCm39) missense possibly damaging 0.80
R4628:Arid3a UTSW 10 79,766,992 (GRCm39) missense possibly damaging 0.95
R5184:Arid3a UTSW 10 79,786,603 (GRCm39) missense possibly damaging 0.73
R7014:Arid3a UTSW 10 79,786,718 (GRCm39) missense possibly damaging 0.50
R7966:Arid3a UTSW 10 79,767,889 (GRCm39) missense probably benign 0.02
R8207:Arid3a UTSW 10 79,786,760 (GRCm39) critical splice donor site probably null
R8294:Arid3a UTSW 10 79,786,535 (GRCm39) synonymous silent
R8918:Arid3a UTSW 10 79,784,765 (GRCm39) missense probably benign 0.08
R9142:Arid3a UTSW 10 79,787,612 (GRCm39) missense unknown
Z1177:Arid3a UTSW 10 79,785,264 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16