Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Aire'

222846

Institutional Source

Beutler Lab

Gene Symbol

Aire

Ensembl Gene

ENSMUSG00000000731

Gene Name

autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)

Synonyms

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78030022-78043610 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78042958 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 85 (D85G)

Ref Sequence

ENSEMBL: ENSMUSP00000115162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019257] [ENSMUST00000105395] [ENSMUST00000105396] [ENSMUST00000128241] [ENSMUST00000130972] [ENSMUST00000131028] [ENSMUST00000138785] [ENSMUST00000140636] [ENSMUST00000154374] [ENSMUST00000145975] [ENSMUST00000148469] [ENSMUST00000143735] [ENSMUST00000155021] [ENSMUST00000156417]

AlphaFold

Q9Z0E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019257
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000019257
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000101034
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000101035
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000114904
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000122659
Gene: ENSMUSG00000000731
AA Change: D85G

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 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000140636
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000121477
Gene: ENSMUSG00000000731
AA Change: D85G

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

noncoding transcript
Transcript: ENSMUST00000141255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143548

Predicted Effect

probably damaging
Transcript: ENSMUST00000154374
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000117094
Gene: ENSMUSG00000000731
AA Change: D85G

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: ENSMUST00000145975
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000120150
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000118317
Gene: ENSMUSG00000000731
AA Change: D85G

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: ENSMUST00000143735
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000123678
Gene: ENSMUSG00000000731
AA Change: D85G

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: ENSMUST00000155021
AA Change: D85G

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

SMART Domains

Protein: ENSMUSP00000122190
Gene: ENSMUSG00000000731
AA Change: D85G

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: D85G

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

SMART Domains

Protein: ENSMUSP00000115162
Gene: ENSMUSG00000000731
AA Change: D85G

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

Meta Mutation Damage Score

0.7752

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	A	11: 101,987,218	H35Q	probably damaging	Het
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
Abca9	A	T	11: 110,131,846	M1022K	probably benign	Het
Abhd4	T	A	14: 54,262,832	H74Q	probably damaging	Het
Actg1	A	G	11: 120,346,810	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Akr1c18	T	A	13: 4,145,309	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,792,109	A185E	probably damaging	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Armc8	A	T	9: 99,483,105	C661*	probably null	Het
Bbs10	C	T	10: 111,300,855	Q610*	probably null	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
Cdk14	T	C	5: 5,380,082	K15R	probably benign	Het
Cdr1	A	G	X: 61,184,814	F249L	probably benign	Het
Cep250	A	C	2: 155,981,453	H1009P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,559,753	G53A	unknown	Het
Cpne1	G	A	2: 156,078,388	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,936,427	H129Y	probably benign	Het
Ercc3	A	G	18: 32,248,429	T433A	probably benign	Het
Gm9936	T	A	5: 114,857,421		probably benign	Het
Grina	T	C	15: 76,248,534	V167A	probably damaging	Het
Hcfc2	A	G	10: 82,738,980	N618D	probably benign	Het
Herpud1	T	C	8: 94,392,206	V196A	probably benign	Het
Hist3h2a	T	A	11: 58,954,928	L64Q	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775	S39P	probably benign	Het
Kdm5a	T	C	6: 120,431,990	S1545P	probably benign	Het
Klra8	C	A	6: 130,115,573	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,665,572	C110S	unknown	Het
Lef1	T	A	3: 131,111,587	I39N	probably damaging	Het
Lnpep	G	A	17: 17,579,063	T110I	probably damaging	Het
Lrp1	T	A	10: 127,540,694	T4282S	probably benign	Het
Lrp6	A	G	6: 134,480,374		probably null	Het
Ly6g5b	A	C	17: 35,114,678	S53A	possibly damaging	Het
M6pr	T	G	6: 122,313,373	N98K	probably damaging	Het
Mal2	T	C	15: 54,600,740	*176Q	probably null	Het
Mansc1	T	C	6: 134,610,311	D301G	possibly damaging	Het
March1	C	A	8: 66,121,821	N11K	probably damaging	Het
Mast3	T	A	8: 70,787,363	I338F	probably benign	Het
Mcm3	A	G	1: 20,803,580	L772P	probably damaging	Het
Mib2	C	T	4: 155,657,880	G176D	probably damaging	Het
Mier2	A	T	10: 79,541,202		probably null	Het
Mogs	C	T	6: 83,117,650	R483*	probably null	Het
Msl2	G	T	9: 101,075,251		probably benign	Het
Naa16	A	T	14: 79,345,059	M530K	probably damaging	Het
Nde1	A	T	16: 14,169,457		probably benign	Het
Ndufb10	T	C	17: 24,722,529		probably null	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Npffr2	T	A	5: 89,582,892	I227N	probably damaging	Het
Nup210l	T	A	3: 90,185,432	L1231Q	probably damaging	Het
Olfr1355	T	C	10: 78,879,388	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850	E271G	probably damaging	Het
Pclo	C	A	5: 14,521,501	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Plekha5	T	A	6: 140,534,564		probably null	Het
Pls1	A	G	9: 95,761,365	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,474,677	M15T	probably benign	Het
Prkd2	T	A	7: 16,847,677	C152*	probably null	Het
Ptprq	T	G	10: 107,667,422	K792Q	probably damaging	Het
Rbbp8	T	C	18: 11,720,624	M296T	probably benign	Het
Rfc3	T	C	5: 151,647,538		probably null	Het
Rnf17	A	G	14: 56,486,969	N1090S	probably benign	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,647,624	Q365L	probably benign	Het
Sgta	A	T	10: 81,051,296	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,609,725	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,981,380	V136G	probably benign	Het
Smg7	A	T	1: 152,860,508	N166K	probably damaging	Het
Spata21	C	T	4: 141,107,329	Q505*	probably null	Het
Strn4	T	C	7: 16,833,028	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684	T248M	probably damaging	Het
Trabd	T	A	15: 89,084,726	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,279,827	N178Y	probably damaging	Het
Try5	C	T	6: 41,314,651		probably null	Het
Tsg101	C	T	7: 46,908,904		probably null	Het
Ube3b	A	G	5: 114,411,149	E738G	probably damaging	Het
Unc13d	A	G	11: 116,068,755	S631P	probably damaging	Het
Unc5d	T	C	8: 28,758,979	T297A	probably damaging	Het
Usp18	A	T	6: 121,268,550	E1V	probably damaging	Het
Vapb	C	A	2: 173,771,598	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,612,372	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,315,995	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,338	G182C	possibly damaging	Het
Wdfy3	A	C	5: 101,860,486	S2778A	probably null	Het
Zbtb2	T	A	10: 4,369,757	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,672,002	V887F	probably benign	Het
Zfp790	A	G	7: 29,828,861	T324A	probably benign	Het
Zufsp	A	G	10: 33,929,824	V437A	possibly damaging	Het

Other mutations in Aire

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Aire	APN	10	78036723	nonsense	probably null
IGL01969:Aire	APN	10	78042982	missense	probably damaging	1.00
Million	UTSW	10	78037975	missense	probably damaging	1.00
BB008:Aire	UTSW	10	78030296	missense	probably damaging	1.00
BB018:Aire	UTSW	10	78030296	missense	probably damaging	1.00
E0370:Aire	UTSW	10	78042063	missense	probably damaging	1.00
IGL03055:Aire	UTSW	10	78043069	missense	probably damaging	1.00
R0326:Aire	UTSW	10	78042599	missense	probably damaging	1.00
R0675:Aire	UTSW	10	78034493	splice site	probably benign
R1748:Aire	UTSW	10	78043480	missense	probably damaging	0.99
R1754:Aire	UTSW	10	78030290	missense	probably damaging	1.00
R2014:Aire	UTSW	10	78042958	missense	probably damaging	1.00
R3800:Aire	UTSW	10	78042055	splice site	probably null
R5424:Aire	UTSW	10	78036719	missense	probably damaging	1.00
R5517:Aire	UTSW	10	78039691	missense	probably benign	0.14
R5983:Aire	UTSW	10	78043069	missense	probably damaging	1.00
R6135:Aire	UTSW	10	78042967	missense	probably damaging	1.00
R6856:Aire	UTSW	10	78030255	missense	probably damaging	1.00
R7405:Aire	UTSW	10	78034613	missense	probably benign	0.01
R7484:Aire	UTSW	10	78042570	missense	probably damaging	1.00
R7606:Aire	UTSW	10	78037933	missense	probably damaging	1.00
R7931:Aire	UTSW	10	78030296	missense	probably damaging	1.00
R8867:Aire	UTSW	10	78037975	missense	probably damaging	1.00
R8887:Aire	UTSW	10	78034464	missense	probably damaging	0.96
R9115:Aire	UTSW	10	78043475	missense
R9562:Aire	UTSW	10	78035745	missense	probably benign
R9623:Aire	UTSW	10	78037975	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATGGGGCACTCTTGAGG -3'
(R):5'- TCCCAAAGAGGCAGGAGTTG -3'

Sequencing Primer
(F):5'- GGCACTCTTGAGGACGAG -3'
(R):5'- TTGGAGAATGATATGCCCAGGTG -3'

Posted On

2014-08-25