Incidental Mutation 'IGL03273:Aaas'
ID |
415331 |
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)
|
Stock # |
IGL03273
|
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]
[ENSMUST00000231061]
[ENSMUST00000230481]
|
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
Domain | Start | End | E-Value | Type |
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: ENSMUST00000231061
AA Change: I70T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
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: 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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
Aldoart1 |
T |
C |
4: 72,770,346 (GRCm39) |
K154R |
probably benign |
Het |
Cdin1 |
A |
G |
2: 115,462,472 (GRCm39) |
Y68C |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
Fbln7 |
A |
T |
2: 128,737,390 (GRCm39) |
T402S |
probably benign |
Het |
Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
Guca1a |
T |
C |
17: 47,706,098 (GRCm39) |
D127G |
probably benign |
Het |
Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
Mysm1 |
A |
C |
4: 94,853,955 (GRCm39) |
S215A |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
|
Other mutations in Aaas |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL03217: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 |