Incidental Mutation 'IGL01744:Aire'
ID152972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aire
Ensembl Gene ENSMUSG00000000731
Gene Nameautoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01744
Quality Score
Status
Chromosome10
Chromosomal Location78030022-78043610 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 78036723 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 354 (E354*)
Ref Sequence ENSEMBL: ENSMUSP00000115162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019257] [ENSMUST00000105395] [ENSMUST00000105396] [ENSMUST00000128241] [ENSMUST00000130972] [ENSMUST00000131028] [ENSMUST00000140636] [ENSMUST00000143735] [ENSMUST00000145975] [ENSMUST00000148469] [ENSMUST00000154374] [ENSMUST00000155021] [ENSMUST00000156417]
Predicted Effect probably null
Transcript: ENSMUST00000019257
AA Change: E354*
SMART Domains Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: E354*

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 null
Transcript: ENSMUST00000105395
AA Change: E355*
SMART Domains Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731
AA Change: E355*

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 probably null
Transcript: ENSMUST00000105396
AA Change: E354*
SMART Domains Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: E354*

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 null
Transcript: ENSMUST00000128241
AA Change: E355*
SMART Domains Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: E355*

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 null
Transcript: ENSMUST00000130972
AA Change: E350*
SMART Domains Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: E350*

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 null
Transcript: ENSMUST00000140636
AA Change: E350*
SMART Domains Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731
AA Change: E350*

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 noncoding transcript
Transcript: ENSMUST00000141255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143548
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 null
Transcript: ENSMUST00000145975
AA Change: E351*
SMART Domains Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: E351*

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 null
Transcript: ENSMUST00000148469
AA Change: E351*
SMART Domains Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731
AA Change: E351*

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 null
Transcript: ENSMUST00000154374
AA Change: E355*
SMART Domains Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: E355*

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 null
Transcript: ENSMUST00000155021
AA Change: E350*
SMART Domains Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: E350*

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 null
Transcript: ENSMUST00000156417
AA Change: E354*
SMART Domains Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731
AA Change: E354*

DomainStartEndE-ValueType
Pfam:Sp100 1 107 1.6e-34 PFAM
SAND 198 264 2.61e-26 SMART
PHD 299 342 6.75e-11 SMART
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T C 7: 12,550,532 I102T possibly damaging Het
4933412E24Rik C A 15: 60,015,575 A339S possibly damaging Het
Ackr2 A G 9: 121,909,119 T187A probably benign Het
Adam28 A G 14: 68,607,507 V777A probably benign Het
Add3 T A 19: 53,239,430 D515E probably damaging Het
AW551984 T C 9: 39,591,272 K670R probably benign Het
Bahcc1 T C 11: 120,271,737 V287A probably benign Het
Brca1 T C 11: 101,524,176 N1044S possibly damaging Het
Bub1b T A 2: 118,636,749 I851N probably damaging Het
Ceacam11 A T 7: 17,973,398 I36F possibly damaging Het
Copa A G 1: 172,113,189 E714G probably benign Het
Cth A T 3: 157,924,935 N32K probably benign Het
Cyp2a5 T A 7: 26,841,009 M349K probably damaging Het
D130052B06Rik A G 11: 33,623,966 S188G unknown Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt1 T C 5: 147,571,461 N1161S probably benign Het
Gm10696 T A 3: 94,176,237 K89M probably damaging Het
Hip1 T C 5: 135,545,063 probably benign Het
Mapk11 A G 15: 89,146,843 probably benign Het
Mtif2 A G 11: 29,544,417 probably benign Het
Myo1f C A 17: 33,583,680 probably benign Het
Nipsnap1 G A 11: 4,889,912 R211H probably damaging Het
Olfr599 A G 7: 103,338,228 H58R probably damaging Het
Olfr781 T C 10: 129,333,457 I192T probably benign Het
Pcdh1 A T 18: 38,203,249 I111N probably damaging Het
Piezo2 T A 18: 63,042,788 I1841F probably damaging Het
Pirb G T 7: 3,717,176 Y399* probably null Het
Ppp1r36 A T 12: 76,439,232 N388I possibly damaging Het
Prr16 A G 18: 51,302,989 D180G possibly damaging Het
Prss39 A G 1: 34,502,199 probably null Het
Trank1 T A 9: 111,349,363 V373D probably damaging Het
Ubn1 A G 16: 5,072,059 E186G probably damaging Het
Zmym2 T C 14: 56,946,572 V997A probably benign Het
Other mutations in Aire
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Aire APN 10 78042982 missense probably damaging 1.00
E0370:Aire UTSW 10 78042063 missense probably damaging 1.00
IGL03055:Aire UTSW 10 78043069 missense probably damaging 1.00
R0326:Aire UTSW 10 78042599 missense probably damaging 1.00
R0675:Aire UTSW 10 78034493 splice site probably benign
R1748:Aire UTSW 10 78043480 missense probably damaging 0.99
R1754:Aire UTSW 10 78030290 missense probably damaging 1.00
R2014:Aire UTSW 10 78042958 missense probably damaging 1.00
R2015:Aire UTSW 10 78042958 missense probably damaging 1.00
R3800:Aire UTSW 10 78042055 unclassified probably null
R5424:Aire UTSW 10 78036719 missense probably damaging 1.00
R5517:Aire UTSW 10 78039691 missense probably benign 0.14
R5983:Aire UTSW 10 78043069 missense probably damaging 1.00
R6135:Aire UTSW 10 78042967 missense probably damaging 1.00
R6856:Aire UTSW 10 78030255 missense probably damaging 1.00
R7405:Aire UTSW 10 78034613 missense probably benign 0.01
R7484:Aire UTSW 10 78042570 missense probably damaging 1.00
R7606:Aire UTSW 10 78037933 missense probably damaging 1.00
Posted On2014-02-04