Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Ap1s3'

296115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap1s3

Ensembl Gene

ENSMUSG00000054702

Gene Name

adaptor-related protein complex AP-1, sigma 3

Synonyms

Jr2, [s]3A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

79584593-79649689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79601439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000125268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159312] [ENSMUST00000160706] [ENSMUST00000162342]

AlphaFold

Q7TN05

Predicted Effect

probably benign
Transcript: ENSMUST00000159312

SMART Domains

Protein: ENSMUSP00000125119
Gene: ENSMUSG00000054702

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	70	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160706

SMART Domains

Protein: ENSMUSP00000125631
Gene: ENSMUSG00000054702

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	81	1.1e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162342
AA Change: V84A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: V84A

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	142	5e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195349

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		probably benign	Het

Other mutations in Ap1s3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02747:Ap1s3	APN	1	79,601,409 (GRCm39)	missense	probably damaging	0.99
IGL03164:Ap1s3	APN	1	79,602,887 (GRCm39)	missense	probably damaging	1.00
R2567:Ap1s3	UTSW	1	79,602,921 (GRCm39)	missense	possibly damaging	0.91
R4647:Ap1s3	UTSW	1	79,591,920 (GRCm39)	splice site	probably null
R4780:Ap1s3	UTSW	1	79,586,889 (GRCm39)	missense	probably benign	0.00
R5958:Ap1s3	UTSW	1	79,591,960 (GRCm39)	missense	probably benign
R6279:Ap1s3	UTSW	1	79,602,840 (GRCm39)	missense	probably damaging	1.00
R6300:Ap1s3	UTSW	1	79,602,840 (GRCm39)	missense	probably damaging	1.00
R6515:Ap1s3	UTSW	1	79,592,044 (GRCm39)	missense	probably damaging	1.00
R7078:Ap1s3	UTSW	1	79,602,845 (GRCm39)	missense	probably benign	0.00
R7135:Ap1s3	UTSW	1	79,586,919 (GRCm39)	missense	probably benign
R7485:Ap1s3	UTSW	1	79,592,018 (GRCm39)	missense	probably damaging	0.99
R7707:Ap1s3	UTSW	1	79,591,964 (GRCm39)	missense	probably benign	0.00
R8378:Ap1s3	UTSW	1	79,601,445 (GRCm39)	missense	probably damaging	1.00
R8897:Ap1s3	UTSW	1	79,601,494 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16