Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01934:Ap3d1'

180584

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ap3d1

Ensembl Gene

ENSMUSG00000020198

Gene Name

adaptor-related protein complex 3, delta 1 subunit

Synonyms

mBLVR1, Bolvr

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.924) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

80706956-80742264 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80709258 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1082 (L1082*)

Ref Sequence

ENSEMBL: ENSMUSP00000020420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020420] [ENSMUST00000218184] [ENSMUST00000218610]

Predicted Effect

probably null
Transcript: ENSMUST00000020420
AA Change: L1082*

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198
AA Change: L1082*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	32	583	6.6e-153	PFAM
Pfam:Cnd1	130	292	2.1e-8	PFAM
low complexity region	629	642	N/A	INTRINSIC
BLVR	660	803	5.3e-80	SMART
low complexity region	835	861	N/A	INTRINSIC
low complexity region	871	881	N/A	INTRINSIC
coiled coil region	910	933	N/A	INTRINSIC
low complexity region	947	964	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095426

SMART Domains

Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862

Domain	Start	End	E-Value	Type
Pfam:IZUMO	26	167	1.1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218058

Predicted Effect

probably benign
Transcript: ENSMUST00000218184

Predicted Effect

probably benign
Transcript: ENSMUST00000218330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218538

Predicted Effect

probably benign
Transcript: ENSMUST00000218610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219987

Coding Region Coverage

Validation Efficiency

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 a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,655	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 91,055,865	T128S	probably damaging	Het
Aars	T	A	8: 111,048,018	I593N	probably damaging	Het
Abca6	A	T	11: 110,188,655	N1224K	probably benign	Het
Abcc5	A	T	16: 20,422,441		probably benign	Het
Adam7	A	G	14: 68,532,599	L35P	probably damaging	Het
Ahnak	T	A	19: 9,002,657	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,552,531	E620G	possibly damaging	Het
Atp6v0a4	T	A	6: 38,051,546	I712F	possibly damaging	Het
Bco1	T	A	8: 117,096,045	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,308,768	S794C	probably damaging	Het
Camk2d	T	C	3: 126,834,655		probably null	Het
Capn15	T	C	17: 25,963,024	T604A	probably damaging	Het
Cd180	A	T	13: 102,702,858	D83V	probably damaging	Het
Ces1a	C	A	8: 93,032,650	R286L	probably damaging	Het
Col6a6	A	G	9: 105,698,659		probably null	Het
Crnkl1	A	G	2: 145,931,282	V148A	probably benign	Het
Epas1	A	T	17: 86,823,729	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,822,606	S148G	probably damaging	Het
Fig4	T	C	10: 41,228,112	T791A	probably benign	Het
Galnt9	A	T	5: 110,602,636	I340F	possibly damaging	Het
Gfap	G	A	11: 102,894,460	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm454	T	C	5: 138,207,162		noncoding transcript	Het
Il24	A	T	1: 130,883,877	L115Q	probably damaging	Het
Ipp	C	A	4: 116,510,655	N28K	probably damaging	Het
Kalrn	A	T	16: 34,198,512		probably null	Het
Klf10	C	T	15: 38,297,284	V171M	probably benign	Het
Man1b1	T	C	2: 25,345,511	S350P	probably benign	Het
Mfsd4a	T	C	1: 132,046,311	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,410,729		probably benign	Het
Myo7b	A	G	18: 32,001,341		probably null	Het
Nbas	T	C	12: 13,289,879		probably benign	Het
Nisch	A	G	14: 31,176,739		probably benign	Het
Olfr494	A	G	7: 108,368,161	I224V	probably damaging	Het
Olfr619	T	C	7: 103,603,975	F107S	probably damaging	Het
Olfr97	A	T	17: 37,231,548	V274D	probably damaging	Het
Parva	T	A	7: 112,588,553	C352*	probably null	Het
Ptf1a	T	A	2: 19,446,620	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,236,535	R1062L	probably benign	Het
Rnf44	A	G	13: 54,681,950	V407A	probably damaging	Het
Shank3	T	C	15: 89,549,846	L1598P	probably damaging	Het
Slit2	T	C	5: 48,238,405	S717P	possibly damaging	Het
Svs1	A	T	6: 48,988,761	I568F	probably damaging	Het
Tdpoz4	A	G	3: 93,797,472	K359E	probably damaging	Het
Tmtc4	A	T	14: 122,927,635	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,065,187	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,834,510		probably benign	Het
Tnpo3	A	T	6: 29,575,020	L382M	probably benign	Het
Tut1	T	C	19: 8,953,991	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,914,775	S229P	probably benign	Het
Usp22	T	C	11: 61,155,288	E476G	probably damaging	Het
Vill	G	T	9: 119,066,809	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,893,937	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,740,116	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,319,833		probably null	Het
Zfp236	A	T	18: 82,633,120	V889E	probably damaging	Het
Zscan20	T	C	4: 128,592,484	D141G	possibly damaging	Het

Other mutations in Ap3d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Ap3d1	APN	10	80741979	missense	probably benign	0.00
IGL00827:Ap3d1	APN	10	80713559	missense	possibly damaging	0.92
IGL01668:Ap3d1	APN	10	80719159	missense	possibly damaging	0.95
IGL03404:Ap3d1	APN	10	80730037	missense	probably damaging	1.00
christian	UTSW	10	80730042	missense	probably damaging	1.00
R0119:Ap3d1	UTSW	10	80723615	splice site	probably benign
R0197:Ap3d1	UTSW	10	80730042	missense	probably damaging	1.00
R0356:Ap3d1	UTSW	10	80727978	missense	probably damaging	1.00
R0372:Ap3d1	UTSW	10	80723567	missense	probably damaging	1.00
R0491:Ap3d1	UTSW	10	80719241	missense	probably damaging	1.00
R0636:Ap3d1	UTSW	10	80719382	nonsense	probably null
R0792:Ap3d1	UTSW	10	80708479	missense	probably benign
R0942:Ap3d1	UTSW	10	80732955	splice site	probably benign
R1015:Ap3d1	UTSW	10	80716489	missense	probably damaging	1.00
R1023:Ap3d1	UTSW	10	80714258	missense	probably damaging	1.00
R1170:Ap3d1	UTSW	10	80732840	splice site	probably benign
R1540:Ap3d1	UTSW	10	80715941	missense	probably benign	0.00
R1639:Ap3d1	UTSW	10	80730010	missense	probably damaging	0.98
R1664:Ap3d1	UTSW	10	80717737	nonsense	probably null
R1669:Ap3d1	UTSW	10	80710836	unclassified	probably benign
R1839:Ap3d1	UTSW	10	80727108	missense	probably damaging	1.00
R1940:Ap3d1	UTSW	10	80709773	missense	probably benign	0.03
R2081:Ap3d1	UTSW	10	80732936	missense	probably damaging	1.00
R2258:Ap3d1	UTSW	10	80721132	missense	probably benign	0.03
R2281:Ap3d1	UTSW	10	80713998	missense	probably damaging	0.96
R2398:Ap3d1	UTSW	10	80719172	nonsense	probably null
R2849:Ap3d1	UTSW	10	80741908	missense	possibly damaging	0.65
R3856:Ap3d1	UTSW	10	80712185	missense	probably benign
R4350:Ap3d1	UTSW	10	80719285	missense	probably benign	0.15
R4590:Ap3d1	UTSW	10	80719812	nonsense	probably null
R4782:Ap3d1	UTSW	10	80721586	splice site	probably null
R4785:Ap3d1	UTSW	10	80712778	frame shift	probably null
R4834:Ap3d1	UTSW	10	80719726	missense	probably damaging	1.00
R4864:Ap3d1	UTSW	10	80712778	frame shift	probably null
R5051:Ap3d1	UTSW	10	80719199	missense	probably damaging	1.00
R5109:Ap3d1	UTSW	10	80709450	missense	probably benign	0.11
R5219:Ap3d1	UTSW	10	80709817	missense	probably benign	0.03
R5220:Ap3d1	UTSW	10	80727167	missense	probably damaging	1.00
R5307:Ap3d1	UTSW	10	80723549	missense	probably benign	0.29
R5586:Ap3d1	UTSW	10	80719130	missense	possibly damaging	0.92
R5796:Ap3d1	UTSW	10	80714037	missense	possibly damaging	0.70
R5905:Ap3d1	UTSW	10	80722927	missense	possibly damaging	0.50
R6025:Ap3d1	UTSW	10	80710464	missense	probably benign	0.01
R6028:Ap3d1	UTSW	10	80722927	missense	possibly damaging	0.50
R6364:Ap3d1	UTSW	10	80710494	splice site	probably null
R6469:Ap3d1	UTSW	10	80712158	missense	probably benign
R6603:Ap3d1	UTSW	10	80714047	missense	probably benign	0.04
R6872:Ap3d1	UTSW	10	80714322	nonsense	probably null
R6887:Ap3d1	UTSW	10	80723698	missense	probably damaging	1.00
R7249:Ap3d1	UTSW	10	80741933	missense	probably damaging	1.00
R7316:Ap3d1	UTSW	10	80717859	missense	probably damaging	1.00
R7325:Ap3d1	UTSW	10	80723803	missense	probably damaging	1.00
R7395:Ap3d1	UTSW	10	80730882	missense	probably benign	0.11
R7405:Ap3d1	UTSW	10	80741900	missense	probably benign	0.16
R7425:Ap3d1	UTSW	10	80721592	missense	probably damaging	1.00
R7558:Ap3d1	UTSW	10	80722921	missense	possibly damaging	0.92
R7583:Ap3d1	UTSW	10	80709458	missense	probably benign	0.13
R7703:Ap3d1	UTSW	10	80717844	missense	probably damaging	1.00
R7964:Ap3d1	UTSW	10	80730057	missense	probably damaging	1.00
R8021:Ap3d1	UTSW	10	80714301	missense	probably benign	0.30
R8200:Ap3d1	UTSW	10	80722932	nonsense	probably null
R8314:Ap3d1	UTSW	10	80723539	missense	possibly damaging	0.91
R8356:Ap3d1	UTSW	10	80732903	missense	probably damaging	1.00
X0019:Ap3d1	UTSW	10	80719102	missense	probably damaging	1.00
X0026:Ap3d1	UTSW	10	80721147	missense	possibly damaging	0.46
Z1088:Ap3d1	UTSW	10	80719237	missense	possibly damaging	0.91

Posted On

2014-05-07