Incidental Mutation 'R6135:Aire'
| ID |
488294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aire
|
| Ensembl Gene |
ENSMUSG00000000731 |
| Gene Name |
autoimmune regulator |
| Synonyms |
|
| MMRRC Submission |
044282-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77865856-77879444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77878801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 82
(L82P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019257]
[ENSMUST00000105395]
[ENSMUST00000105396]
[ENSMUST00000128241]
[ENSMUST00000130972]
[ENSMUST00000131028]
[ENSMUST00000154374]
[ENSMUST00000140636]
[ENSMUST00000143735]
[ENSMUST00000145975]
[ENSMUST00000148469]
[ENSMUST00000155021]
[ENSMUST00000156417]
[ENSMUST00000138785]
|
| AlphaFold |
Q9Z0E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019257
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
8.9e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
299 |
342 |
6.75e-11 |
SMART |
|
RING
|
300 |
341 |
3.63e0 |
SMART |
|
low complexity region
|
398 |
419 |
N/A |
INTRINSIC |
|
PHD
|
432 |
475 |
7.82e-7 |
SMART |
|
RING
|
433 |
474 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105395
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
1.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
300 |
343 |
6.75e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105396
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
2.2e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
299 |
342 |
6.75e-11 |
SMART |
|
RING
|
300 |
341 |
3.63e0 |
SMART |
|
PHD
|
373 |
416 |
7.82e-7 |
SMART |
|
RING
|
374 |
415 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128241
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
5 |
104 |
3.3e-27 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
300 |
343 |
6.75e-11 |
SMART |
|
RING
|
301 |
342 |
3.63e0 |
SMART |
|
low complexity region
|
399 |
420 |
N/A |
INTRINSIC |
|
PHD
|
433 |
476 |
7.82e-7 |
SMART |
|
RING
|
434 |
475 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130972
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
2.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
295 |
338 |
6.75e-11 |
SMART |
|
RING
|
296 |
337 |
3.63e0 |
SMART |
|
low complexity region
|
394 |
415 |
N/A |
INTRINSIC |
|
PHD
|
428 |
471 |
7.82e-7 |
SMART |
|
RING
|
429 |
470 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131028
|
| SMART Domains |
Protein: ENSMUSP00000114808
Gene: ENSMUSG00000000731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
5 |
57 |
2.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135316
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154374
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
7.4e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
300 |
343 |
6.75e-11 |
SMART |
|
RING
|
301 |
342 |
3.63e0 |
SMART |
|
PHD
|
374 |
417 |
7.82e-7 |
SMART |
|
RING
|
375 |
416 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140636
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
1.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
295 |
338 |
6.75e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143735
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
1.1e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145975
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
2.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
296 |
339 |
6.75e-11 |
SMART |
|
RING
|
297 |
338 |
3.63e0 |
SMART |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
PHD
|
429 |
472 |
7.82e-7 |
SMART |
|
RING
|
430 |
471 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148469
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
1.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
296 |
339 |
6.75e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155021
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
2.2e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
295 |
338 |
6.75e-11 |
SMART |
|
RING
|
296 |
337 |
3.63e0 |
SMART |
|
PHD
|
369 |
412 |
7.82e-7 |
SMART |
|
RING
|
370 |
411 |
2.49e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156417
AA Change: L82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
1 |
107 |
1.6e-34 |
PFAM |
|
SAND
|
198 |
264 |
2.61e-26 |
SMART |
|
PHD
|
299 |
342 |
6.75e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138785
|
| SMART Domains |
Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
PDB:2PVC|C
|
38 |
415 |
1e-163 |
PDB |
|
SCOP:d1fp0a1
|
123 |
191 |
5e-3 |
SMART |
|
Blast:RING
|
130 |
179 |
1e-18 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
PHENOTYPE: Targeted mutations that inactivate the gene result in immune system dysfunction characterized by multiorgan lymphocytic infiltration and circulating autoantibodies. Whereas one line is fertile, another exhibits male and female sterility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,402,335 (GRCm39) |
E95G |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,932,096 (GRCm39) |
T250I |
possibly damaging |
Het |
| Ahi1 |
G |
A |
10: 20,845,020 (GRCm39) |
R375H |
probably benign |
Het |
| Aimp1 |
T |
C |
3: 132,377,844 (GRCm39) |
K174E |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,259,656 (GRCm39) |
V760D |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Carf |
C |
T |
1: 60,187,122 (GRCm39) |
S540F |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,473,087 (GRCm39) |
M172K |
probably benign |
Het |
| Chpt1 |
A |
T |
10: 88,318,145 (GRCm39) |
V199E |
possibly damaging |
Het |
| Cldn16 |
G |
A |
16: 26,293,018 (GRCm39) |
D65N |
possibly damaging |
Het |
| Cnga3 |
G |
A |
1: 37,271,318 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,244,246 (GRCm39) |
T440A |
unknown |
Het |
| Creb3l3 |
A |
G |
10: 80,921,552 (GRCm39) |
I331T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,832,379 (GRCm39) |
T1410A |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,223,075 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
A |
T |
4: 25,214,716 (GRCm39) |
Y20* |
probably null |
Het |
| Fignl1 |
T |
C |
11: 11,752,557 (GRCm39) |
D166G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,355,447 (GRCm39) |
I279V |
probably benign |
Het |
| Gm1979 |
T |
G |
5: 26,205,298 (GRCm39) |
S180R |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,189,292 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,298,508 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,548,119 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnh2 |
T |
A |
5: 24,526,791 (GRCm39) |
S1002C |
probably damaging |
Het |
| Krt87 |
T |
A |
15: 101,385,415 (GRCm39) |
E319V |
probably damaging |
Het |
| Lbp |
A |
G |
2: 158,159,469 (GRCm39) |
I201V |
probably benign |
Het |
| Man1a2 |
G |
A |
3: 100,592,248 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,326 (GRCm39) |
T996A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,661 (GRCm39) |
L319P |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,620 (GRCm39) |
|
probably null |
Het |
| Or5b97 |
A |
C |
19: 12,878,803 (GRCm39) |
Y114D |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,870 (GRCm39) |
N166K |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,269 (GRCm39) |
N487K |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,415,460 (GRCm39) |
D91G |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,171,065 (GRCm39) |
F22L |
probably benign |
Het |
| Pnpla8 |
A |
C |
12: 44,329,670 (GRCm39) |
N74T |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,448,980 (GRCm39) |
K114R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,693,430 (GRCm39) |
D645G |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,332,854 (GRCm39) |
V2688I |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,951 (GRCm39) |
H557R |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Rrp9 |
G |
A |
9: 106,360,221 (GRCm39) |
D210N |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,129,807 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,534,244 (GRCm39) |
H477L |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,888,914 (GRCm39) |
M195K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,993,877 (GRCm39) |
K1110E |
probably damaging |
Het |
| Spata24 |
T |
A |
18: 35,793,503 (GRCm39) |
E103V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,910,894 (GRCm39) |
N25S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,140 (GRCm39) |
Y59C |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,626,831 (GRCm39) |
W1143R |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,738,559 (GRCm39) |
D765E |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,580,798 (GRCm39) |
R444C |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,303 (GRCm39) |
I4555N |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,838,045 (GRCm39) |
E2500K |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,573 (GRCm39) |
Y200C |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,693,668 (GRCm39) |
H2719L |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,653 (GRCm39) |
D347G |
possibly damaging |
Het |
| Zfp653 |
G |
A |
9: 21,969,558 (GRCm39) |
T236I |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 10,799,913 (GRCm39) |
H325Q |
probably benign |
Het |
|
| Other mutations in Aire |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01744:Aire
|
APN |
10 |
77,872,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL01969:Aire
|
APN |
10 |
77,878,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Million
|
UTSW |
10 |
77,873,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Aire
|
UTSW |
10 |
77,866,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Aire
|
UTSW |
10 |
77,866,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
E0370:Aire
|
UTSW |
10 |
77,877,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03055:Aire
|
UTSW |
10 |
77,878,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Aire
|
UTSW |
10 |
77,878,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Aire
|
UTSW |
10 |
77,870,327 (GRCm39) |
splice site |
probably benign |
|
|
R1748:Aire
|
UTSW |
10 |
77,879,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1754:Aire
|
UTSW |
10 |
77,866,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Aire
|
UTSW |
10 |
77,878,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Aire
|
UTSW |
10 |
77,878,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Aire
|
UTSW |
10 |
77,877,889 (GRCm39) |
splice site |
probably null |
|
|
R5424:Aire
|
UTSW |
10 |
77,872,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Aire
|
UTSW |
10 |
77,875,525 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5983:Aire
|
UTSW |
10 |
77,878,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Aire
|
UTSW |
10 |
77,866,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Aire
|
UTSW |
10 |
77,870,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7484:Aire
|
UTSW |
10 |
77,878,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Aire
|
UTSW |
10 |
77,873,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Aire
|
UTSW |
10 |
77,866,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Aire
|
UTSW |
10 |
77,873,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Aire
|
UTSW |
10 |
77,870,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9115:Aire
|
UTSW |
10 |
77,879,309 (GRCm39) |
missense |
|
|
|
R9562:Aire
|
UTSW |
10 |
77,871,579 (GRCm39) |
missense |
probably benign |
|
|
R9623:Aire
|
UTSW |
10 |
77,873,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAATGGGGCACTCTTGAGGAC -3'
(R):5'- TCCCAAAGAGGCAGGAGTTG -3'
Sequencing Primer
(F):5'- CTTAGGATCTGCCCAAGTTCTAGTG -3'
(R):5'- TTGGAGAATGATATGCCCAGGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation