Incidental Mutation 'R3715:Aaas'
| ID |
259875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aaas
|
| Ensembl Gene |
ENSMUSG00000036678 |
| Gene Name |
achalasia, adrenocortical insufficiency, alacrimia |
| Synonyms |
GL003, D030041N15Rik, Aladin |
| MMRRC Submission |
040708-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R3715 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102246682-102259194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102248771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 236
(I236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001331]
[ENSMUST00000041208]
[ENSMUST00000113682]
[ENSMUST00000231061]
[ENSMUST00000228959]
[ENSMUST00000229900]
[ENSMUST00000230481]
|
| 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: I269V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678
AA Change: I269V
| 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 |
noncoding transcript
Transcript: ENSMUST00000164019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231061
AA Change: I236V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229589
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230481
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230406
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230710
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
| Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,488,571 (GRCm39) |
A300S |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,465,405 (GRCm39) |
L833P |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
| Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
| Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
| Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,187 (GRCm39) |
I52F |
possibly damaging |
Het |
| Syncrip |
A |
T |
9: 88,361,738 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
| Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCAACTCATGGTGGGC -3'
(R):5'- TGTTCTCACAGTCATCAGCC -3'
Sequencing Primer
(F):5'- GGGCTACCCATTTATGTACACAAATC -3'
(R):5'- CCCCTCCCCCAATGCATTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation