Incidental Mutation 'R8230:Aaas'
| ID |
637119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aaas
|
| Ensembl Gene |
ENSMUSG00000036678 |
| Gene Name |
achalasia, adrenocortical insufficiency, alacrimia |
| Synonyms |
GL003, D030041N15Rik, Aladin |
| MMRRC Submission |
067662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.501)
|
| Stock # |
R8230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102246682-102259194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102246904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 485
(Y485H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001331]
[ENSMUST00000041208]
[ENSMUST00000113682]
|
| AlphaFold |
P58742 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001331
|
| SMART Domains |
Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0160
|
41 |
161 |
4.8e-54 |
PFAM |
|
Pfam:UPF0160
|
158 |
312 |
1.3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041208
AA Change: Y485H
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: Y485H
| 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 |
probably benign
Transcript: ENSMUST00000113682
|
| SMART Domains |
Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:UPF0160
|
45 |
365 |
1.5e-143 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171244
|
| SMART Domains |
Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0160
|
41 |
209 |
1.7e-76 |
PFAM |
|
Pfam:UPF0160
|
204 |
306 |
3.3e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
T |
A |
4: 56,743,768 (GRCm39) |
H98Q |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,252,917 (GRCm39) |
T267I |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,391,835 (GRCm39) |
H1945R |
possibly damaging |
Het |
| Baiap3 |
A |
G |
17: 25,465,827 (GRCm39) |
I585T |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Ccdc127 |
T |
C |
13: 74,508,751 (GRCm39) |
F50S |
unknown |
Het |
| Ccdc15 |
T |
C |
9: 37,226,555 (GRCm39) |
E473G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,721,482 (GRCm39) |
D763G |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,451,824 (GRCm39) |
F147I |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,914 (GRCm39) |
G954D |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,935 (GRCm39) |
M1T |
probably null |
Het |
| F2r |
T |
A |
13: 95,741,247 (GRCm39) |
D96V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,149,424 (GRCm39) |
D730G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,037,565 (GRCm39) |
I892V |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,198,735 (GRCm39) |
N60S |
probably benign |
Het |
| Gm12790 |
T |
C |
4: 101,825,280 (GRCm39) |
I45V |
probably benign |
Het |
| Herc1 |
G |
A |
9: 66,377,598 (GRCm39) |
V3455I |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,056,411 (GRCm39) |
D826G |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,234,485 (GRCm39) |
Y300C |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,068 (GRCm39) |
Q68R |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,030,020 (GRCm39) |
Y309C |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,326,711 (GRCm39) |
|
probably null |
Het |
| Kat7 |
T |
C |
11: 95,168,415 (GRCm39) |
K414E |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,982 (GRCm39) |
L260Q |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,843,930 (GRCm39) |
I215T |
noncoding transcript |
Het |
| Ntpcr |
G |
T |
8: 126,464,159 (GRCm39) |
|
probably null |
Het |
| Ntrk3 |
C |
A |
7: 77,900,518 (GRCm39) |
C607F |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,545 (GRCm39) |
H119L |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,631 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5w13 |
T |
A |
2: 87,523,705 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,191,707 (GRCm39) |
V601A |
probably damaging |
Het |
| Plagl2 |
A |
G |
2: 153,074,239 (GRCm39) |
C221R |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,179,968 (GRCm39) |
Y195H |
probably damaging |
Het |
| Tapbpl |
T |
A |
6: 125,203,684 (GRCm39) |
Y332F |
probably damaging |
Het |
| Tbx15 |
G |
T |
3: 99,259,305 (GRCm39) |
C392F |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,194,094 (GRCm39) |
L222P |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,389,078 (GRCm39) |
D222V |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,009 (GRCm39) |
E2750G |
probably damaging |
Het |
| Zfp870 |
A |
G |
17: 33,102,663 (GRCm39) |
V222A |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCGGAGTTACATCCTGG -3'
(R):5'- CAAAGGGGCCTTGCTTAGTG -3'
Sequencing Primer
(F):5'- CTCGGAGTTACATCCTGGTAAATGAG -3'
(R):5'- CCTTGCTTAGTGTGGTGAGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation