Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Ap3m1'

374360

Institutional Source

Beutler Lab

Gene Symbol

Ap3m1

Ensembl Gene

ENSMUSG00000021824

Gene Name

adaptor-related protein complex 3, mu 1 subunit

Synonyms

C78982, 1200013D09Rik

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21083810-21102603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21087225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 157 (P157L)

Ref Sequence

ENSEMBL: ENSMUSP00000153649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022369] [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000154460] [ENSMUST00000224016]

AlphaFold

Q9JKC8

Predicted Effect

probably benign
Transcript: ENSMUST00000022369

SMART Domains

Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823

Domain	Start	End	E-Value	Type
Pfam:Vinculin	3	485	9e-203	PFAM
Pfam:Vinculin	475	1066	1.7e-301	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022371
AA Change: P317L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824
AA Change: P317L

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	96	1e-23	SMART
Pfam:Adap_comp_sub	111	364	9.1e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122974

Predicted Effect

probably benign
Transcript: ENSMUST00000126536

SMART Domains

Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
SCOP:d1gw5m2	1	91	9e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130291

SMART Domains

Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	138	9e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148886

Predicted Effect

probably damaging
Transcript: ENSMUST00000154460
AA Change: P371L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: P371L

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	136	1.8e-8	PFAM
Pfam:Adap_comp_sub	165	418	1e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156716

Predicted Effect

probably damaging
Transcript: ENSMUST00000224016
AA Change: P157L

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

Meta Mutation Damage Score

0.7978

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Ap3m1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02628:Ap3m1	APN	14	21,095,588 (GRCm39)	nonsense	probably null
IGL02815:Ap3m1	APN	14	21,086,750 (GRCm39)	missense	probably damaging	1.00
R0268:Ap3m1	UTSW	14	21,087,170 (GRCm39)	splice site	probably benign
R1780:Ap3m1	UTSW	14	21,091,138 (GRCm39)	missense	probably benign	0.20
R1961:Ap3m1	UTSW	14	21,091,083 (GRCm39)	missense	probably damaging	1.00
R2029:Ap3m1	UTSW	14	21,089,217 (GRCm39)	missense	possibly damaging	0.94
R3903:Ap3m1	UTSW	14	21,086,732 (GRCm39)	missense	probably null	1.00
R4952:Ap3m1	UTSW	14	21,090,134 (GRCm39)	missense	probably benign	0.00
R5050:Ap3m1	UTSW	14	21,094,843 (GRCm39)	missense	probably benign	0.00
R5741:Ap3m1	UTSW	14	21,095,788 (GRCm39)	missense	possibly damaging	0.95
R6761:Ap3m1	UTSW	14	21,088,096 (GRCm39)	missense	probably benign
R7394:Ap3m1	UTSW	14	21,088,147 (GRCm39)	missense	probably benign	0.00
R7487:Ap3m1	UTSW	14	21,088,107 (GRCm39)	missense	probably benign
R7640:Ap3m1	UTSW	14	21,088,243 (GRCm39)	missense	probably benign	0.03
R9156:Ap3m1	UTSW	14	21,090,152 (GRCm39)	missense	probably damaging	0.99
R9331:Ap3m1	UTSW	14	21,095,666 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAATGAGGGCTTCTCTGGCTC -3'
(R):5'- TGTATAGCATCTGTTGACCTCTG -3'

Sequencing Primer
(F):5'- GCTTCTCTGGCTCTTAAATGAAG -3'
(R):5'- GACCTCTGAGCATGTCTTTAACACAG -3'

Posted On

2016-03-01