Incidental Mutation 'R6856:Aire'
| ID |
535267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aire
|
| Ensembl Gene |
ENSMUSG00000000731 |
| Gene Name |
autoimmune regulator |
| Synonyms |
|
| MMRRC Submission |
044958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77865856-77879444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77866089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 546
(F546I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019257]
[ENSMUST00000105395]
[ENSMUST00000105396]
[ENSMUST00000128241]
[ENSMUST00000130972]
[ENSMUST00000131028]
[ENSMUST00000140636]
[ENSMUST00000143735]
[ENSMUST00000145975]
[ENSMUST00000148469]
[ENSMUST00000154374]
[ENSMUST00000155021]
[ENSMUST00000156417]
|
| AlphaFold |
Q9Z0E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019257
AA Change: F549I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: F549I
| 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 benign
Transcript: ENSMUST00000105395
|
| SMART Domains |
Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731
| 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 |
possibly damaging
Transcript: ENSMUST00000105396
AA Change: F490I
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: F490I
| 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: F550I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: F550I
| 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: F545I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: F545I
| 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 |
probably benign
Transcript: ENSMUST00000140636
|
| SMART Domains |
Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731
| 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 benign
Transcript: ENSMUST00000143735
|
| SMART Domains |
Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731
| 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: F546I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: F546I
| 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 benign
Transcript: ENSMUST00000148469
|
| SMART Domains |
Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731
| 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: ENSMUST00000154374
AA Change: F491I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: F491I
| 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: ENSMUST00000155021
AA Change: F486I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: F486I
| 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 benign
Transcript: ENSMUST00000156417
|
| SMART Domains |
Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,205,755 (GRCm39) |
M156V |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
| Atad2 |
T |
A |
15: 57,970,209 (GRCm39) |
H464L |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
| Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
| Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
| Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
| Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
| Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
| Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
| Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
| Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,443,721 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
| Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
| Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
| Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
| Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
| Plxnb2 |
A |
C |
15: 89,048,523 (GRCm39) |
C629G |
probably benign |
Het |
| Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,247 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
| Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
| Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
| Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
probably null |
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 |
|
R6135:Aire
|
UTSW |
10 |
77,878,801 (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'- TACAAAGATCAGGGCCATCTG -3'
(R):5'- CTGGATCAAGAGACCTCCCTTC -3'
Sequencing Primer
(F):5'- ATCTGCAAGCTGAGTCCAG -3'
(R):5'- TTCACTGGCATGTCCCATGGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation