Incidental Mutation 'IGL03273:Aaas'
ID415331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aaas
Ensembl Gene ENSMUSG00000036678
Gene Nameachalasia, adrenocortical insufficiency, alacrimia
SynonymsD030041N15Rik, GL003, Aladin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.529) question?
Stock #IGL03273
Quality Score
Status
Chromosome15
Chromosomal Location102338252-102350771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102349995 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 29 (I29T)
Ref Sequence ENSEMBL: ENSMUSP00000155299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041208] [ENSMUST00000229900] [ENSMUST00000230481] [ENSMUST00000231061]
Predicted Effect probably damaging
Transcript: ENSMUST00000041208
AA Change: I70T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: I70T

DomainStartEndE-ValueType
WD40 136 179 3.7e0 SMART
WD40 181 221 4.75e1 SMART
WD40 232 273 1.17e-5 SMART
WD40 278 315 2.66e0 SMART
Blast:WD40 319 357 2e-15 BLAST
low complexity region 534 545 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229589
Predicted Effect probably damaging
Transcript: ENSMUST00000229900
AA Change: I29T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230349
Predicted Effect probably damaging
Transcript: ENSMUST00000230481
AA Change: I29T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230812
Predicted Effect probably damaging
Transcript: ENSMUST00000231061
AA Change: I70T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524N10Rik A T X: 154,339,701 F114L probably benign Het
Adam32 T A 8: 24,921,340 I102F probably damaging Het
Aldoart1 T C 4: 72,852,109 K154R probably benign Het
BC052040 A G 2: 115,631,991 Y68C probably damaging Het
Cep63 T C 9: 102,602,467 K349E probably benign Het
Col28a1 A G 6: 8,103,484 probably benign Het
Dennd4c A G 4: 86,777,796 N130S probably damaging Het
Dnah5 T G 15: 28,458,649 F4477L probably damaging Het
Fbln7 A T 2: 128,895,470 T402S probably benign Het
Frem2 A C 3: 53,537,509 Y2400* probably null Het
Gm11937 C T 11: 99,609,801 probably benign Het
Guca1a T C 17: 47,395,173 D127G probably benign Het
Hrh3 T A 2: 180,100,648 T396S possibly damaging Het
Map1a A G 2: 121,300,238 N512D probably damaging Het
Mysm1 A C 4: 94,965,718 S215A probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nup93 T A 8: 94,306,277 D556E probably benign Het
Ofcc1 T A 13: 40,180,525 K363N probably damaging Het
Psme4 T A 11: 30,848,130 S1374R probably damaging Het
Slitrk2 T C X: 66,653,996 I31T probably benign Het
Stk40 A G 4: 126,123,806 N42S possibly damaging Het
Tarbp1 A G 8: 126,453,835 L600P probably damaging Het
Tjp1 T C 7: 65,299,799 S1692G probably damaging Het
Tmem63c G T 12: 87,081,802 V534L probably damaging Het
Vmn2r77 A G 7: 86,811,286 K607E probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T probably benign Het
Other mutations in Aaas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Aaas APN 15 102339374 missense possibly damaging 0.77
IGL01620:Aaas APN 15 102339950 missense probably damaging 1.00
IGL02337:Aaas APN 15 102339227 missense probably benign 0.01
IGL02608:Aaas APN 15 102339192 missense probably benign 0.00
IGL03024:Aaas APN 15 102350491 splice site probably benign
IGL03217:Aaas APN 15 102349995 missense probably damaging 1.00
Shrinker UTSW 15 102346676 critical splice donor site probably null
R1545:Aaas UTSW 15 102339206 missense probably damaging 1.00
R1546:Aaas UTSW 15 102346718 missense probably benign 0.00
R1957:Aaas UTSW 15 102338633 unclassified probably benign
R1996:Aaas UTSW 15 102340059 missense probably benign 0.10
R1997:Aaas UTSW 15 102340059 missense probably benign 0.10
R3079:Aaas UTSW 15 102340444 missense probably damaging 0.99
R3715:Aaas UTSW 15 102340336 missense probably benign 0.01
R5427:Aaas UTSW 15 102339950 missense possibly damaging 0.94
R5586:Aaas UTSW 15 102346676 critical splice donor site probably null
R5620:Aaas UTSW 15 102338391 missense probably benign 0.00
R5969:Aaas UTSW 15 102350564 missense probably damaging 1.00
R6763:Aaas UTSW 15 102340022 missense probably null
Posted On2016-08-02