Incidental Mutation 'R7405:Aire'
ID |
574520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aire
|
Ensembl Gene |
ENSMUSG00000000731 |
Gene Name |
autoimmune regulator |
Synonyms |
|
MMRRC Submission |
045376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77865856-77879444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77870447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 458
(H458R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114904
(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 |
possibly damaging
Transcript: ENSMUST00000019257
AA Change: H457R
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000019257 Gene: ENSMUSG00000000731 AA Change: H457R
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: H398R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000101035 Gene: ENSMUSG00000000731 AA Change: H398R
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 benign
Transcript: ENSMUST00000128241
AA Change: H458R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114904 Gene: ENSMUSG00000000731 AA Change: H458R
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 benign
Transcript: ENSMUST00000130972
AA Change: H453R
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122659 Gene: ENSMUSG00000000731 AA Change: H453R
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 benign
Transcript: ENSMUST00000145975
AA Change: H454R
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000120150 Gene: ENSMUSG00000000731 AA Change: H454R
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 |
possibly damaging
Transcript: ENSMUST00000154374
AA Change: H399R
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117094 Gene: ENSMUSG00000000731 AA Change: H399R
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 benign
Transcript: ENSMUST00000155021
AA Change: H394R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000122190 Gene: ENSMUSG00000000731 AA Change: H394R
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,649 (GRCm39) |
V383L |
probably damaging |
Het |
4930507D05Rik |
C |
A |
10: 62,285,563 (GRCm39) |
H96N |
unknown |
Het |
5730480H06Rik |
T |
C |
5: 48,545,458 (GRCm39) |
I235T |
possibly damaging |
Het |
Abcb11 |
A |
G |
2: 69,117,963 (GRCm39) |
Y472H |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,659 (GRCm39) |
I17L |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,577,734 (GRCm39) |
D31G |
probably benign |
Het |
Atad2b |
T |
A |
12: 4,993,232 (GRCm39) |
H250Q |
probably benign |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Borcs5 |
C |
A |
6: 134,662,945 (GRCm39) |
T74N |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,407,586 (GRCm39) |
T292I |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Cfap107 |
T |
C |
4: 144,146,323 (GRCm39) |
N110S |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,921 (GRCm39) |
F462S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,700,789 (GRCm39) |
S153G |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,993 (GRCm39) |
C328R |
possibly damaging |
Het |
Ddr1 |
A |
G |
17: 36,000,992 (GRCm39) |
V251A |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,221,986 (GRCm39) |
F475L |
probably damaging |
Het |
Dkk4 |
G |
A |
8: 23,115,859 (GRCm39) |
V99M |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,600,654 (GRCm39) |
A1938V |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,081,238 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
T |
A |
10: 85,880,445 (GRCm39) |
Y377N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,136 (GRCm39) |
I299V |
possibly damaging |
Het |
Fkbp10 |
C |
T |
11: 100,306,707 (GRCm39) |
A33V |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,850 (GRCm39) |
T87A |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
T |
5: 110,356,312 (GRCm39) |
I1000F |
probably damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,199 (GRCm39) |
I563T |
probably benign |
Het |
Gsx1 |
T |
C |
5: 147,125,943 (GRCm39) |
S82P |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,583,819 (GRCm39) |
K34E |
possibly damaging |
Het |
Kank1 |
T |
A |
19: 25,387,683 (GRCm39) |
L452* |
probably null |
Het |
Lce1k |
A |
T |
3: 92,714,181 (GRCm39) |
M1K |
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,969,868 (GRCm39) |
I185T |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,417,620 (GRCm39) |
D1046G |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,987 (GRCm39) |
Y1994N |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,238,815 (GRCm39) |
D496E |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,321 (GRCm39) |
S925F |
possibly damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,360 (GRCm39) |
G88D |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,358,648 (GRCm39) |
V783A |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,156,618 (GRCm39) |
W778R |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,712,687 (GRCm39) |
L2130P |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,476,865 (GRCm39) |
N30S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,162,253 (GRCm39) |
V299A |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,606,320 (GRCm39) |
D474G |
probably benign |
Het |
Or10ag56 |
A |
C |
2: 87,139,339 (GRCm39) |
I89L |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,246 (GRCm39) |
V151A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,899 (GRCm39) |
F370I |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,531 (GRCm39) |
V164A |
probably benign |
Het |
Pgap2 |
T |
C |
7: 101,880,595 (GRCm39) |
V41A |
probably benign |
Het |
Plekhh1 |
C |
T |
12: 79,101,821 (GRCm39) |
T297I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,173,254 (GRCm39) |
Y1226N |
probably benign |
Het |
Polr3b |
A |
G |
10: 84,520,043 (GRCm39) |
D653G |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,104,486 (GRCm39) |
F289L |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,435,524 (GRCm39) |
S82P |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,531 (GRCm39) |
V37D |
probably damaging |
Het |
Rasa2 |
G |
A |
9: 96,448,080 (GRCm39) |
P526S |
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,183,838 (GRCm39) |
I255N |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,853,717 (GRCm39) |
T296S |
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,549,167 (GRCm39) |
I316F |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,766,884 (GRCm39) |
V134D |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,604,161 (GRCm39) |
S2T |
probably benign |
Het |
Slc9a4 |
C |
T |
1: 40,640,086 (GRCm39) |
R293C |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
G |
1: 161,655,783 (GRCm39) |
F1039L |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,832,543 (GRCm39) |
Y208H |
possibly damaging |
Het |
Tpr |
T |
C |
1: 150,317,878 (GRCm39) |
S2129P |
probably benign |
Het |
Trim34b |
T |
A |
7: 103,985,690 (GRCm39) |
S442T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,573,690 (GRCm39) |
Y25734* |
probably null |
Het |
Uchl5 |
C |
T |
1: 143,675,752 (GRCm39) |
Q276* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,041,663 (GRCm39) |
D1184E |
probably damaging |
Het |
Zfat |
G |
A |
15: 68,056,334 (GRCm39) |
R241W |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,477,968 (GRCm39) |
Y48* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,118 (GRCm39) |
Q455R |
unknown |
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 |
R6856:Aire
|
UTSW |
10 |
77,866,089 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGACACTGACCTTGGCAAGC -3'
(R):5'- GAGGTTTCCCAGTTAACCCG -3'
Sequencing Primer
(F):5'- TGACCTTGGCAAGCCCAGG -3'
(R):5'- TTCCCAGTTAACCCGGGCTG -3'
|
Posted On |
2019-09-13 |