Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Ap1s3'

594310

Institutional Source

Beutler Lab

Gene Symbol

Ap1s3

Ensembl Gene

ENSMUSG00000054702

Gene Name

adaptor-related protein complex AP-1, sigma 3

Synonyms

Jr2, [s]3A

MMRRC Submission

067893-MU

Accession Numbers

Essential gene?

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

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79584593-79649689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79591964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

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

probably benign
Transcript: ENSMUST00000162342
AA Change: K129E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125268
Gene: ENSMUSG00000054702
AA Change: K129E

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

Meta Mutation Damage Score

0.1610

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,753,771 (GRCm39)	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Gorab	T	C	1: 163,220,009 (GRCm39)	D211G	probably damaging	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Nr2c1	T	A	10: 94,024,027 (GRCm39)	S411T	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,604,043 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,132,207 (GRCm39)	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	Het

Other mutations in Ap1s3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Ap1s3	APN	1	79,601,439 (GRCm39)	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- GCCGAACATTTCACAGCAAG -3'
(R):5'- TGGATATCACCTGAATTGAATGGC -3'

Sequencing Primer
(F):5'- GAACATTTCACAGCAAGTCTCTATTC -3'
(R):5'- CACCTGAATTGAATGGCAATATTGG -3'

Posted On

2019-11-12