Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Ap1g1'

22981

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

038438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0158 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

110505215-110590842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110582267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 724 (S724P)

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

probably benign
Transcript: ENSMUST00000034171
AA Change: S724P

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

SMART Domains

Protein: ENSMUSP00000034171
Gene: ENSMUSG00000031731
AA Change: S724P

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

probably benign
Transcript: ENSMUST00000093157
AA Change: S727P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090844
Gene: ENSMUSG00000031731
AA Change: S727P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173980

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	probably benign	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
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
R8022:Ap1g1	UTSW	8	110,559,367 (GRCm39)	missense	possibly damaging	0.90
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'- ACAGCCTCTCTTCAATGACATCGC -3'
(R):5'- CGACTACAATGGCATGTTTTGATGACC -3'

Sequencing Primer
(F):5'- TTCAATGACATCGCTCCAGG -3'
(R):5'- ATGGCATGTTTTGATGACCTCAATG -3'

Posted On

2013-04-16