Incidental Mutation 'R7931:Aire'
ID 643604
Institutional Source Beutler Lab
Gene Symbol Aire
Ensembl Gene ENSMUSG00000000731
Gene Name autoimmune regulator
Synonyms
MMRRC Submission 045978-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7931 (G1)
Quality Score 999
Status Validated
Chromosome 10
Chromosomal Location 77865856-77879444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77866130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 536 (A536V)
Ref Sequence ENSEMBL: ENSMUSP00000114904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019257] [ENSMUST00000105395] [ENSMUST00000105396] [ENSMUST00000128241] [ENSMUST00000130972] [ENSMUST00000131028] [ENSMUST00000145975] [ENSMUST00000154374] [ENSMUST00000155021] [ENSMUST00000140636] [ENSMUST00000143735] [ENSMUST00000148469] [ENSMUST00000156417]
AlphaFold Q9Z0E3
Predicted Effect probably damaging
Transcript: ENSMUST00000019257
AA Change: A535V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: A535V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 8.9e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
RING 300 341 3.63e0 SMART
low complexity region 398 419 N/A INTRINSIC
PHD 432 475 7.82e-7 SMART
RING 433 474 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105395
SMART Domains Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105396
AA Change: A476V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: A476V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.2e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
RING 300 341 3.63e0 SMART
PHD 373 416 7.82e-7 SMART
RING 374 415 2.49e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128241
AA Change: A536V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: A536V

DomainStartEndE-ValueType
Pfam:Sp100 5 104 3.3e-27 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
RING 301 342 3.63e0 SMART
low complexity region 399 420 N/A INTRINSIC
PHD 433 476 7.82e-7 SMART
RING 434 475 2.49e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130972
AA Change: A531V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: A531V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
RING 296 337 3.63e0 SMART
low complexity region 394 415 N/A INTRINSIC
PHD 428 471 7.82e-7 SMART
RING 429 470 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131028
SMART Domains Protein: ENSMUSP00000114808
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 5 57 2.6e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145975
AA Change: A532V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: A532V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 296 339 6.75e-11 SMART
RING 297 338 3.63e0 SMART
low complexity region 395 416 N/A INTRINSIC
PHD 429 472 7.82e-7 SMART
RING 430 471 2.49e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154374
AA Change: A477V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: A477V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 7.4e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 300 343 6.75e-11 SMART
RING 301 342 3.63e0 SMART
PHD 374 417 7.82e-7 SMART
RING 375 416 2.49e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155021
AA Change: A472V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: A472V

DomainStartEndE-ValueType
Pfam:Sp100 1 107 2.2e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
RING 296 337 3.63e0 SMART
PHD 369 412 7.82e-7 SMART
RING 370 411 2.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140636
SMART Domains Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 295 338 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143735
SMART Domains Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.1e-34 PFAM
SAND 198 264 2.61e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148469
SMART Domains Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 296 339 6.75e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156417
SMART Domains Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
Meta Mutation Damage Score 0.1555 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
PHENOTYPE: Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 A T 2: 91,037,060 (GRCm39) probably null Het
Aox4 A G 1: 58,294,645 (GRCm39) I951M probably benign Het
Ash1l G T 3: 88,950,848 (GRCm39) C2190F probably damaging Het
C1s1 C T 6: 124,510,359 (GRCm39) V363M probably damaging Het
Col7a1 C A 9: 108,809,590 (GRCm39) probably benign Het
Coq10b A G 1: 55,092,152 (GRCm39) probably benign Het
Diaph3 A T 14: 87,352,456 (GRCm39) D48E possibly damaging Het
Dnajc13 A G 9: 104,095,763 (GRCm39) V559A probably benign Het
Dzank1 T C 2: 144,323,614 (GRCm39) I610V probably benign Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gria1 A G 11: 57,201,351 (GRCm39) probably benign Het
Hoxa13 G GCA 6: 52,237,620 (GRCm39) probably null Het
Igkv4-70 C A 6: 69,244,975 (GRCm39) R82L probably damaging Het
Lnp1 T A 16: 56,748,281 (GRCm39) R4* probably null Het
Lrrc3b T C 14: 15,358,018 (GRCm38) N196S probably benign Het
Mlxip A G 5: 123,588,558 (GRCm39) D816G probably damaging Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Myom3 A T 4: 135,516,947 (GRCm39) H839L probably benign Het
Nebl C T 2: 17,381,433 (GRCm39) probably null Het
Ninj1 T C 13: 49,347,432 (GRCm39) I99T probably damaging Het
Nvl C T 1: 180,936,720 (GRCm39) probably benign Het
Or11g1 A C 14: 50,651,786 (GRCm39) M262L probably damaging Het
Or2l5 A G 16: 19,334,258 (GRCm39) S43P possibly damaging Het
Or4a76 T A 2: 89,460,448 (GRCm39) I265F possibly damaging Het
Or8g55 A T 9: 39,785,146 (GRCm39) T192S possibly damaging Het
Otop1 A G 5: 38,445,364 (GRCm39) H174R probably damaging Het
Pcdhb16 A G 18: 37,611,510 (GRCm39) N157D possibly damaging Het
Prss44 A C 9: 110,643,746 (GRCm39) Q130P probably damaging Het
Ptprh C A 7: 4,574,987 (GRCm39) S344I probably benign Het
Rps6kl1 T C 12: 85,196,566 (GRCm39) I33V possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn1a T C 2: 66,148,156 (GRCm39) S110G probably damaging Het
Sdk2 C A 11: 113,784,267 (GRCm39) K157N possibly damaging Het
Serpina1d A T 12: 103,733,815 (GRCm39) V163D probably damaging Het
Serpina3g T C 12: 104,205,428 (GRCm39) S56P probably benign Het
Slc4a4 T C 5: 89,318,640 (GRCm39) L636P probably benign Het
Slc6a1 T C 6: 114,288,863 (GRCm39) F474S probably benign Het
Slco6d1 A G 1: 98,356,141 (GRCm39) D235G probably damaging Het
Srgn A T 10: 62,330,763 (GRCm39) M114K possibly damaging Het
Syne3 A T 12: 104,929,491 (GRCm39) V243E probably damaging Het
Tbc1d5 T C 17: 51,106,892 (GRCm39) probably benign Het
Tcf19 A G 17: 35,825,804 (GRCm39) F118L probably damaging Het
Tln2 A T 9: 67,165,742 (GRCm39) probably null Het
Tnxb A G 17: 34,907,672 (GRCm39) T1239A probably damaging Het
Traip A G 9: 107,848,241 (GRCm39) I453M probably benign Het
Usp5 T C 6: 124,801,409 (GRCm39) probably benign Het
Vmn1r157 C T 7: 22,461,210 (GRCm39) A30V probably damaging Het
Vmn1r233 G A 17: 21,214,125 (GRCm39) A275V probably benign Het
Vps13d G A 4: 144,822,854 (GRCm39) R2976* probably null Het
Wdr75 T C 1: 45,858,795 (GRCm39) F655L probably benign Het
Wwp1 A G 4: 19,650,114 (GRCm39) probably null Het
Zc3h4 T C 7: 16,166,909 (GRCm39) L747P unknown Het
Zfp268 G A 4: 145,349,126 (GRCm39) D188N possibly damaging Het
Other mutations in Aire
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Aire APN 10 77,872,557 (GRCm39) nonsense probably null
IGL01969:Aire APN 10 77,878,816 (GRCm39) missense probably damaging 1.00
Million UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
BB008:Aire UTSW 10 77,866,130 (GRCm39) missense probably damaging 1.00
BB018:Aire UTSW 10 77,866,130 (GRCm39) missense probably damaging 1.00
E0370:Aire UTSW 10 77,877,897 (GRCm39) missense probably damaging 1.00
IGL03055:Aire UTSW 10 77,878,903 (GRCm39) missense probably damaging 1.00
R0326:Aire UTSW 10 77,878,433 (GRCm39) missense probably damaging 1.00
R0675:Aire UTSW 10 77,870,327 (GRCm39) splice site probably benign
R1748:Aire UTSW 10 77,879,314 (GRCm39) missense probably damaging 0.99
R1754:Aire UTSW 10 77,866,124 (GRCm39) missense probably damaging 1.00
R2014:Aire UTSW 10 77,878,792 (GRCm39) missense probably damaging 1.00
R2015:Aire UTSW 10 77,878,792 (GRCm39) missense probably damaging 1.00
R3800:Aire UTSW 10 77,877,889 (GRCm39) splice site probably null
R5424:Aire UTSW 10 77,872,553 (GRCm39) missense probably damaging 1.00
R5517:Aire UTSW 10 77,875,525 (GRCm39) missense probably benign 0.14
R5983:Aire UTSW 10 77,878,903 (GRCm39) missense probably damaging 1.00
R6135:Aire UTSW 10 77,878,801 (GRCm39) missense probably damaging 1.00
R6856:Aire UTSW 10 77,866,089 (GRCm39) missense probably damaging 1.00
R7405:Aire UTSW 10 77,870,447 (GRCm39) missense probably benign 0.01
R7484:Aire UTSW 10 77,878,404 (GRCm39) missense probably damaging 1.00
R7606:Aire UTSW 10 77,873,767 (GRCm39) missense probably damaging 1.00
R8867:Aire UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
R8887:Aire UTSW 10 77,870,298 (GRCm39) missense probably damaging 0.96
R9115:Aire UTSW 10 77,879,309 (GRCm39) missense
R9562:Aire UTSW 10 77,871,579 (GRCm39) missense probably benign
R9623:Aire UTSW 10 77,873,809 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAAGATCAGGGCCATCTG -3'
(R):5'- ACTGGATCAAGAGACCTCCCTTC -3'

Sequencing Primer
(F):5'- ATCTGCAAGCTGAGTCCAG -3'
(R):5'- TTCACTGGCATGTCCCATGGG -3'
Posted On 2020-08-07