Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:Aire'

453391

Institutional Source

Beutler Lab

Gene Symbol

Aire

Ensembl Gene

ENSMUSG00000000731

Gene Name

autoimmune regulator

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03055 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

77865856-77879444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77878903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 48 (L48P)

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: L48P

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

unknown
Transcript: ENSMUST00000131028
AA Change: S66P

SMART Domains

Protein: ENSMUSP00000114808
Gene: ENSMUSG00000000731
AA Change: S66P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: L48P

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: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731
AA Change: L48P

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: ENSMUST00000143548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141255

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

Meta Mutation Damage Score

0.8903

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (58/59)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nkain3	C	A	4: 20,778,308 (GRCm39)	C3F	probably benign	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Or52p1	A	T	7: 104,267,413 (GRCm39)	I176F	probably damaging	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
Ssh2	C	T	11: 77,299,021 (GRCm39)	Q123*	probably null	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	possibly damaging	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
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
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'- GTATCCATATCCCCGATGCTAC -3'
(R):5'- GAGACCTCTCCAGATCAAGTCC -3'

Sequencing Primer
(F):5'- ATGCTACCCATTGGCTGAG -3'
(R):5'- CAGATCAAGTCCCAGGTGAGTTC -3'

Posted On

2017-02-03