Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Ap3m1'

197475

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

039811-MU

Accession Numbers

Essential gene?

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

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21083810-21102603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21091138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 156 (T156A)

Ref Sequence

ENSEMBL: ENSMUSP00000117346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022371] [ENSMUST00000126536] [ENSMUST00000130291] [ENSMUST00000130370] [ENSMUST00000154460] [ENSMUST00000224016]

AlphaFold

Q9JKC8

Predicted Effect

probably benign
Transcript: ENSMUST00000022371
AA Change: T102A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022371
Gene: ENSMUSG00000021824
AA Change: T102A

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

probably benign
Transcript: ENSMUST00000126536
AA Change: I98M

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000116046
Gene: ENSMUSG00000021824
AA Change: I98M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130291
AA Change: T156A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118259
Gene: ENSMUSG00000021824
AA Change: T156A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130370

SMART Domains

Protein: ENSMUSP00000115157
Gene: ENSMUSG00000021824

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	138	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148886

Predicted Effect

probably benign
Transcript: ENSMUST00000154460
AA Change: T156A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824
AA Change: T156A

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 benign
Transcript: ENSMUST00000224016

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,558,229 (GRCm39)	E493G	probably damaging	Het
Aff3	A	T	1: 38,574,783 (GRCm39)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,380,274 (GRCm39)	K2470N	probably damaging	Het
Arhgef4	T	A	1: 34,763,241 (GRCm39)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,738,674 (GRCm39)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,873,291 (GRCm39)	T25A	probably benign	Het
Atp13a2	T	A	4: 140,729,771 (GRCm39)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,820,112 (GRCm39)	Y174*	probably null	Het
Bche	A	G	3: 73,607,953 (GRCm39)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,835,836 (GRCm39)		probably null	Het
Cadps2	C	T	6: 23,320,931 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,289,341 (GRCm39)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,120,270 (GRCm39)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,814,077 (GRCm39)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,007 (GRCm39)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,541,301 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,527,295 (GRCm39)		probably benign	Het
Cyp2d26	T	C	15: 82,678,208 (GRCm39)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,429,926 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,991,293 (GRCm39)	C2358S	probably damaging	Het
Entpd8	T	C	2: 24,974,318 (GRCm39)	S368P	probably benign	Het
Epg5	A	T	18: 78,067,205 (GRCm39)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,206,956 (GRCm39)	V623E	probably benign	Het
Flg2	A	G	3: 93,110,306 (GRCm39)	E778G	unknown	Het
Gbe1	C	T	16: 70,292,212 (GRCm39)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,830,196 (GRCm39)		probably null	Het
Hyal6	C	T	6: 24,734,031 (GRCm39)		probably benign	Het
Ifi27l2b	A	G	12: 103,417,578 (GRCm39)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,384,250 (GRCm39)	D309E	unknown	Het
Lrp6	C	T	6: 134,441,414 (GRCm39)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm39)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mx1	T	C	16: 97,252,712 (GRCm39)	*289W	probably null	Het
Myo7b	T	C	18: 32,094,238 (GRCm39)	E1970G	probably damaging	Het
Mypn	T	C	10: 62,957,743 (GRCm39)	Y24C	probably damaging	Het
Naxe	G	C	3: 87,964,440 (GRCm39)	P167A	probably benign	Het
Nmnat2	A	T	1: 152,988,186 (GRCm39)	K272*	probably null	Het
Nmnat3	C	T	9: 98,236,164 (GRCm39)	T19M	probably damaging	Het
Or4f52	T	C	2: 111,062,043 (GRCm39)	I32V	probably benign	Het
Or51b17	A	T	7: 103,542,762 (GRCm39)	F60Y	probably damaging	Het
Or51b4	A	G	7: 103,530,799 (GRCm39)	V217A	probably benign	Het
Or5b118	A	G	19: 13,448,726 (GRCm39)	T131A	probably benign	Het
Or9s27	G	A	1: 92,516,111 (GRCm39)	V20M	probably benign	Het
Pgm3	T	G	9: 86,438,257 (GRCm39)	E509D	probably damaging	Het
Phf3	A	T	1: 30,851,023 (GRCm39)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,800,543 (GRCm39)	S3062A	probably benign	Het
Pogz	A	T	3: 94,777,437 (GRCm39)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,320,356 (GRCm39)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,284,742 (GRCm39)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,310,324 (GRCm39)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,130,325 (GRCm39)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,030,496 (GRCm39)	S1307P	probably benign	Het
Rspo1	A	G	4: 124,901,538 (GRCm39)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,697,637 (GRCm39)	M922I	probably damaging	Het
Samm50	C	T	15: 84,095,328 (GRCm39)	A438V	probably damaging	Het
Sec1	A	C	7: 45,328,256 (GRCm39)	S264A	probably benign	Het
Sec31a	A	T	5: 100,529,195 (GRCm39)		probably null	Het
Slc13a3	T	C	2: 165,248,619 (GRCm39)	N553S	unknown	Het
Smg6	T	A	11: 74,836,942 (GRCm39)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,929,174 (GRCm39)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,365,113 (GRCm39)	R648G	probably damaging	Het
Sugct	T	G	13: 17,627,039 (GRCm39)		probably null	Het
Tmed10	A	G	12: 85,401,653 (GRCm39)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,333,280 (GRCm39)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,124 (GRCm39)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,067,176 (GRCm39)	R21W	probably damaging	Het
Ttn	T	C	2: 76,641,043 (GRCm39)	I11863V	probably null	Het
Ubp1	G	A	9: 113,793,647 (GRCm39)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,205,744 (GRCm39)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,481,999 (GRCm39)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,703,668 (GRCm39)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,805,424 (GRCm39)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,656,029 (GRCm39)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,794,914 (GRCm39)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,933,794 (GRCm39)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,766,395 (GRCm39)	H841N	probably damaging	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
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
R4837:Ap3m1	UTSW	14	21,087,225 (GRCm39)	missense	probably damaging	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'- CTGTCAGATGAGTGACTGCAAGAGG -3'
(R):5'- GAGCCCATCACAACAGCTATGAAGG -3'

Sequencing Primer
(F):5'- CTGGCAATATCTCAACTAGTGGC -3'
(R):5'- TCACAACAGCTATGAAGGAAAATC -3'

Posted On

2014-05-23