Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Ap1g1'

617458

Institutional Source

Beutler Lab

Gene Symbol

Ap1g1

Ensembl Gene

ENSMUSG00000031731

Gene Name

adaptor protein complex AP-1, gamma 1 subunit

Synonyms

D8Ertd374e, gamma-adaptin, Adtg

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110505215-110590842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110559367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 221 (R221S)

Ref Sequence

ENSEMBL: ENSMUSP00000034171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034171] [ENSMUST00000093157]

AlphaFold

P22892

PDB Structure

GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1 [X-RAY DIFFRACTION]
GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1, L762E MUTANT [X-RAY DIFFRACTION]
GAMMA-ADAPTIN APPENDAGE DOMAIN FROM CLATHRIN ADAPTOR AP1 A753D MUTANT [X-RAY DIFFRACTION]
AP1 CLATHRIN ADAPTOR CORE [X-RAY DIFFRACTION]
On the Routine Use of Soft X-Rays in Macromolecular Crystallography, Part III- The Optimal Data Collection Wavelength [X-RAY DIFFRACTION]
Crystal structure of computationally redesigned gamma-adaptin appendage domain forming a symmetric homodimer [X-RAY DIFFRACTION]
Structural basis for recruitment and activation of the AP-1 clathrin adaptor complex by Arf1 [X-RAY DIFFRACTION]
Crystal structure of the human BST2 cytoplasmic domain and the HIV-1 Vpu cytoplasmic domain bound to the clathrin adaptor protein complex 1 (AP1) core [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034171
AA Change: R221S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: R221S

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Adaptin_N	23	574	7.8e-157	PFAM
low complexity region	626	636	N/A	INTRINSIC
low complexity region	653	667	N/A	INTRINSIC
low complexity region	668	676	N/A	INTRINSIC
Alpha_adaptinC2	699	817	6.37e-46	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093157
AA Change: R224S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: R224S

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Adaptin_N	23	577	1.1e-155	PFAM
low complexity region	629	639	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC
low complexity region	671	679	N/A	INTRINSIC
Alpha_adaptinC2	702	820	6.37e-46	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality before implantation. Heterozygotes display slow postnatal weight gain, decreased CD4-positive, alpha beta T cell number in the thymus, and decreased body size up to 10 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,361,915 (GRCm39)	T1386S	probably benign	Het
AI661453	T	G	17: 47,777,161 (GRCm39)	S296A	unknown	Het
Ambp	G	T	4: 63,062,434 (GRCm39)	N268K	probably damaging	Het
Ankrd11	T	C	8: 123,614,332 (GRCm39)	K2503E	probably damaging	Het
Ap5z1	T	C	5: 142,455,904 (GRCm39)		probably null	Het
Aspa	A	C	11: 73,213,032 (GRCm39)	N103K	probably benign	Het
Bend7	G	A	2: 4,757,590 (GRCm39)	V211I	probably benign	Het
Bsn	A	G	9: 107,991,603 (GRCm39)	M1383T	probably benign	Het
Cad	G	T	5: 31,226,150 (GRCm39)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,723,358 (GRCm39)	L856S	probably damaging	Het
Cdh20	T	A	1: 109,988,838 (GRCm39)	S247T	probably benign	Het
Ces1b	A	G	8: 93,795,943 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm39)	V34E	unknown	Het
Clca3a2	A	T	3: 144,511,527 (GRCm39)	F623I	probably damaging	Het
Cope	T	G	8: 70,765,453 (GRCm39)	M217R	probably benign	Het
Crim1	T	A	17: 78,622,984 (GRCm39)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,760,486 (GRCm39)	I644N	probably damaging	Het
Cry1	G	A	10: 84,982,266 (GRCm39)	A360V	probably damaging	Het
Ctcfl	A	T	2: 172,960,559 (GRCm39)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,500,315 (GRCm39)	Q475*	probably null	Het
Cyp39a1	T	C	17: 44,057,468 (GRCm39)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,914,478 (GRCm39)	Q484L	probably benign	Het
Dnah1	A	G	14: 30,986,971 (GRCm39)	F3607S	probably damaging	Het
Dnali1	T	A	4: 124,959,323 (GRCm39)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,081,052 (GRCm39)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,596,570 (GRCm39)	A53S	probably benign	Het
Epcam	T	C	17: 87,953,736 (GRCm39)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm39)	I155V	possibly damaging	Het
Fgd6	A	T	10: 93,880,206 (GRCm39)	K353N	possibly damaging	Het
Glce	A	T	9: 61,967,873 (GRCm39)	M426K	probably benign	Het
Glmp	A	T	3: 88,233,827 (GRCm39)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,424,494 (GRCm39)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,058,800 (GRCm39)	H273L	probably benign	Het
Gzmg	T	A	14: 56,394,903 (GRCm39)	T122S	probably benign	Het
Hace1	T	C	10: 45,577,066 (GRCm39)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,937,682 (GRCm39)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,366,189 (GRCm39)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,517,010 (GRCm39)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,122,446 (GRCm39)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,486,678 (GRCm39)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,639,754 (GRCm39)	E740G	probably benign	Het
Lmod3	T	C	6: 97,225,260 (GRCm39)	D187G	probably benign	Het
Lsm3	C	T	6: 91,496,543 (GRCm39)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,413,599 (GRCm39)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,674,346 (GRCm39)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,822,242 (GRCm39)	R782Q	probably damaging	Het
Mical2	A	T	7: 111,902,974 (GRCm39)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,299,431 (GRCm39)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,476,192 (GRCm39)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,839,136 (GRCm39)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,515,113 (GRCm39)	N28D	probably benign	Het
Nprl2	A	C	9: 107,420,260 (GRCm39)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm39)	I88N	probably damaging	Het
Oas3	A	G	5: 120,895,031 (GRCm39)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,612,654 (GRCm39)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,247,412 (GRCm39)	Y187F	possibly damaging	Het
Pgc	A	G	17: 48,039,701 (GRCm39)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,321,683 (GRCm39)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,565 (GRCm39)	R46G		Het
Rrbp1	C	A	2: 143,798,712 (GRCm39)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,904,050 (GRCm39)	T676S	probably benign	Het
Setdb1	A	T	3: 95,245,910 (GRCm39)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,254,396 (GRCm39)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,445,456 (GRCm39)	E450G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,105,533 (GRCm39)	V667E	unknown	Het
Slc39a3	T	C	10: 80,867,111 (GRCm39)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,722,766 (GRCm39)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,663,680 (GRCm39)	T53M	probably damaging	Het
Snx33	A	G	9: 56,832,624 (GRCm39)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,448,166 (GRCm39)	Q382*	probably null	Het
Sun3	C	A	11: 8,973,376 (GRCm39)	S167I	probably damaging	Het
Sycp2	A	G	2: 177,996,855 (GRCm39)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,888,955 (GRCm39)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 53,016,284 (GRCm39)	Q57*	probably null	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,265,102 (GRCm39)	I204N	probably damaging	Het
Usp4	A	G	9: 108,255,670 (GRCm39)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,566,848 (GRCm39)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Xpo6	G	A	7: 125,768,426 (GRCm39)	L94F	probably benign	Het
Zbtb11	A	G	16: 55,826,383 (GRCm39)	K804R	probably damaging	Het
Zfp616	A	G	11: 73,974,894 (GRCm39)	R479G	probably benign	Het
Zfp661	T	C	2: 127,419,844 (GRCm39)	T99A	probably benign	Het
Zfp839	A	T	12: 110,821,532 (GRCm39)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,046,765 (GRCm39)		probably null	Het

Other mutations in Ap1g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ap1g1	APN	8	110,559,414 (GRCm39)	missense	possibly damaging	0.85
IGL01907:Ap1g1	APN	8	110,569,975 (GRCm39)	splice site	probably benign
IGL02248:Ap1g1	APN	8	110,590,065 (GRCm39)	utr 3 prime	probably benign
IGL02548:Ap1g1	APN	8	110,576,254 (GRCm39)	missense	probably damaging	1.00
Collapse	UTSW	8	110,554,968 (GRCm39)	critical splice donor site	probably null
Deflate	UTSW	8	110,577,764 (GRCm39)	critical splice donor site	probably null
depress	UTSW	8	110,565,552 (GRCm39)	missense	probably damaging	1.00
R0158:Ap1g1	UTSW	8	110,582,267 (GRCm39)	missense	probably benign	0.00
R0226:Ap1g1	UTSW	8	110,581,694 (GRCm39)	missense	probably benign	0.39
R0254:Ap1g1	UTSW	8	110,529,749 (GRCm39)	missense	probably benign	0.01
R0315:Ap1g1	UTSW	8	110,545,667 (GRCm39)	missense	probably benign
R0380:Ap1g1	UTSW	8	110,529,796 (GRCm39)	splice site	probably benign
R0471:Ap1g1	UTSW	8	110,580,275 (GRCm39)	missense	possibly damaging	0.90
R0508:Ap1g1	UTSW	8	110,564,364 (GRCm39)	splice site	probably benign
R0837:Ap1g1	UTSW	8	110,577,697 (GRCm39)	missense	probably damaging	1.00
R1025:Ap1g1	UTSW	8	110,545,571 (GRCm39)	missense	probably benign	0.24
R1700:Ap1g1	UTSW	8	110,580,244 (GRCm39)	missense	probably damaging	1.00
R1759:Ap1g1	UTSW	8	110,559,853 (GRCm39)	missense	probably damaging	1.00
R1809:Ap1g1	UTSW	8	110,559,814 (GRCm39)	splice site	probably benign
R2161:Ap1g1	UTSW	8	110,570,986 (GRCm39)	missense	probably damaging	1.00
R3428:Ap1g1	UTSW	8	110,570,080 (GRCm39)	missense	probably damaging	1.00
R3772:Ap1g1	UTSW	8	110,564,418 (GRCm39)	missense	probably damaging	1.00
R3897:Ap1g1	UTSW	8	110,581,631 (GRCm39)	missense	probably damaging	0.97
R4244:Ap1g1	UTSW	8	110,560,122 (GRCm39)	missense	probably benign	0.04
R4714:Ap1g1	UTSW	8	110,556,252 (GRCm39)	missense	probably damaging	0.98
R4736:Ap1g1	UTSW	8	110,581,714 (GRCm39)	missense	possibly damaging	0.93
R5173:Ap1g1	UTSW	8	110,577,764 (GRCm39)	critical splice donor site	probably null
R5185:Ap1g1	UTSW	8	110,589,958 (GRCm39)	utr 3 prime	probably benign
R5435:Ap1g1	UTSW	8	110,565,552 (GRCm39)	missense	probably damaging	1.00
R5685:Ap1g1	UTSW	8	110,564,415 (GRCm39)	missense	probably damaging	0.99
R5824:Ap1g1	UTSW	8	110,565,544 (GRCm39)	splice site	probably null
R5867:Ap1g1	UTSW	8	110,545,614 (GRCm39)	missense	probably damaging	1.00
R6339:Ap1g1	UTSW	8	110,571,000 (GRCm39)	missense	possibly damaging	0.85
R6978:Ap1g1	UTSW	8	110,554,968 (GRCm39)	critical splice donor site	probably null
R7440:Ap1g1	UTSW	8	110,529,356 (GRCm39)	splice site	probably null
R7532:Ap1g1	UTSW	8	110,586,796 (GRCm39)	missense	probably damaging	1.00
R7598:Ap1g1	UTSW	8	110,576,308 (GRCm39)	missense	probably benign	0.01
R7978:Ap1g1	UTSW	8	110,564,399 (GRCm39)	nonsense	probably null
R8743:Ap1g1	UTSW	8	110,564,423 (GRCm39)	missense	probably damaging	0.99
R8947:Ap1g1	UTSW	8	110,589,964 (GRCm39)	utr 3 prime	probably benign
R9002:Ap1g1	UTSW	8	110,581,738 (GRCm39)	missense	probably benign
R9225:Ap1g1	UTSW	8	110,585,509 (GRCm39)	missense	probably benign	0.27
R9512:Ap1g1	UTSW	8	110,529,687 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTTCAGCCATTTGCATTACTG -3'
(R):5'- AACGCAATAATTATTTGGTCCCGG -3'

Sequencing Primer
(F):5'- CAGCCATTTGCATTACTGTATTTAC -3'
(R):5'- GCAATAATTATTTGGTCCCGGTTCAC -3'

Posted On

2020-01-23