Incidental Mutation 'IGL03217:Aaas'
ID 413513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aaas
Ensembl Gene ENSMUSG00000036678
Gene Name achalasia, adrenocortical insufficiency, alacrimia
Synonyms GL003, D030041N15Rik, Aladin
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # IGL03217
Quality Score
Status
Chromosome 15
Chromosomal Location 102246682-102259194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102258430 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P58742
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 probably damaging
Transcript: ENSMUST00000231061
AA Change: I70T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230710
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 G A 14: 66,272,262 (GRCm39) P640L possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cd300lf T A 11: 115,015,117 (GRCm39) T151S possibly damaging Het
Elk4 A G 1: 131,945,778 (GRCm39) T219A probably benign Het
Eml1 G T 12: 108,501,201 (GRCm39) E680D probably benign Het
Gm9755 T C 8: 67,967,035 (GRCm39) noncoding transcript Het
Hmcn1 A T 1: 150,619,418 (GRCm39) I1232N possibly damaging Het
Maml2 T C 9: 13,531,295 (GRCm39) S170P probably damaging Het
Mettl16 T A 11: 74,708,529 (GRCm39) M536K probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nxf2 T C X: 133,856,281 (GRCm39) I287V probably benign Het
Nyap2 A G 1: 81,065,039 (GRCm39) D17G probably damaging Het
Pde6b T C 5: 108,567,432 (GRCm39) C270R probably damaging Het
Ptchd1 T C X: 154,356,955 (GRCm39) D750G probably damaging Het
Rrn3 G A 16: 13,626,875 (GRCm39) E490K possibly damaging Het
Slc27a2 G A 2: 126,428,172 (GRCm39) G519D possibly damaging Het
Sox5 A G 6: 143,853,223 (GRCm39) S352P probably damaging Het
Spart G T 3: 55,035,912 (GRCm39) probably benign Het
Sult1e1 T C 5: 87,737,947 (GRCm39) T45A possibly damaging Het
Tat G A 8: 110,721,818 (GRCm39) V242I probably benign Het
Zfp442 A G 2: 150,251,714 (GRCm39) probably benign Het
Other mutations in Aaas
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00328:Aaas APN 15 102,247,809 (GRCm39) missense possibly damaging 0.77
IGL01620:Aaas APN 15 102,248,385 (GRCm39) missense probably damaging 1.00
IGL02337:Aaas APN 15 102,247,662 (GRCm39) missense probably benign 0.01
IGL02608:Aaas APN 15 102,247,627 (GRCm39) missense probably benign 0.00
IGL03024:Aaas APN 15 102,258,926 (GRCm39) splice site probably benign
IGL03273:Aaas APN 15 102,258,430 (GRCm39) missense probably damaging 1.00
Shrinker UTSW 15 102,255,111 (GRCm39) critical splice donor site probably null
R1545:Aaas UTSW 15 102,247,641 (GRCm39) missense probably damaging 1.00
R1546:Aaas UTSW 15 102,255,153 (GRCm39) missense probably benign 0.00
R1957:Aaas UTSW 15 102,247,068 (GRCm39) unclassified probably benign
R1996:Aaas UTSW 15 102,248,494 (GRCm39) missense probably benign 0.10
R1997:Aaas UTSW 15 102,248,494 (GRCm39) missense probably benign 0.10
R3079:Aaas UTSW 15 102,248,879 (GRCm39) missense probably damaging 0.99
R3715:Aaas UTSW 15 102,248,771 (GRCm39) missense probably benign 0.01
R5427:Aaas UTSW 15 102,248,385 (GRCm39) missense possibly damaging 0.94
R5586:Aaas UTSW 15 102,255,111 (GRCm39) critical splice donor site probably null
R5620:Aaas UTSW 15 102,246,826 (GRCm39) missense probably benign 0.00
R5969:Aaas UTSW 15 102,258,999 (GRCm39) missense probably damaging 1.00
R6763:Aaas UTSW 15 102,248,457 (GRCm39) missense probably null
R8230:Aaas UTSW 15 102,246,904 (GRCm39) missense probably benign 0.03
R8698:Aaas UTSW 15 102,247,250 (GRCm39) critical splice donor site probably benign
R8755:Aaas UTSW 15 102,255,520 (GRCm39) missense probably benign 0.00
R9081:Aaas UTSW 15 102,248,502 (GRCm39) missense probably damaging 1.00
R9283:Aaas UTSW 15 102,258,499 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02